Variant report

Variant	esv2421617
Chromosome Location	chr1:155185951-155206167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1560)
CpG islands
(count:1102)
Chromatin interactive
region (count:120)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1560 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155196578-155196994	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:155196486-155197271	K562	blood:	n/a	n/a
3	ATF1	chr1:155194483-155194805	K562	blood:	n/a	n/a
4	ATF1	chr1:155192881-155193170	K562	blood:	n/a	n/a
5	ATF1	chr1:155188710-155188996	K562	blood:	n/a	n/a
6	ATF2	chr1:155197384-155197948	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:155196290-155196702	GM12878	blood:	n/a	n/a
8	ATF2	chr1:155196208-155196851	GM12878	blood:	n/a	n/a
9	ATF2	chr1:155197384-155197964	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:155196936-155197811	GM12878	blood:	n/a	n/a
11	ATF2	chr1:155196944-155197904	GM12878	blood:	n/a	n/a
12	ATF3	chr1:155189353-155189656	H1-hESC	embryonic stem cell:	n/a	chr1:155189481-155189490
13	ATF3	chr1:155194392-155194847	K562	blood:	n/a	n/a
14	ATF3	chr1:155188657-155188922	HepG2	liver:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
15	ATF3	chr1:155188686-155188991	GM12878	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
16	ATF3	chr1:155188638-155189090	GM12878	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
17	ATF3	chr1:155189415-155189608	GM12878	blood:	n/a	chr1:155189481-155189490
18	ATF3	chr1:155188700-155189110	HepG2	liver:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
19	ATF3	chr1:155189276-155189599	K562	blood:	n/a	chr1:155189481-155189490
20	ATF3	chr1:155188647-155189041	H1-hESC	embryonic stem cell:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
21	ATF3	chr1:155188671-155188931	K562	blood:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
22	ATF3	chr1:155188661-155188974	H1-hESC	embryonic stem cell:	n/a	chr1:155188822-155188831 chr1:155188842-155188851
23	ATF3	chr1:155189186-155189737	H1-hESC	embryonic stem cell:	n/a	chr1:155189481-155189490
24	ATF3	chr1:155189316-155189697	GM12878	blood:	n/a	chr1:155189481-155189490
25	BACH1	chr1:155196500-155196997	K562	blood:	n/a	n/a
26	BACH1	chr1:155197223-155197305	K562	blood:	n/a	n/a
27	BACH1	chr1:155196510-155197939	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL3	chr1:155196164-155198121	A549	lung:	n/a	n/a
29	BCLAF1	chr1:155196322-155197414	GM12878	blood:	n/a	n/a
30	BDP1	chr1:155196158-155197032	Hela-S3	cervix:	n/a	n/a
31	BDP1	chr1:155193690-155194244	Hela-S3	cervix:	n/a	chr1:155193724-155193737
32	BHLHE40	chr1:155197067-155197817	GM12878	blood:	n/a	n/a
33	BHLHE40	chr1:155196322-155196799	GM12878	blood:	n/a	n/a
34	BHLHE40	chr1:155196870-155197655	HepG2	liver:	n/a	n/a
35	BHLHE40	chr1:155196326-155197943	K562	blood:	n/a	n/a
36	BHLHE40	chr1:155188705-155188957	K562	blood:	n/a	chr1:155188816-155188837
37	BHLHE40	chr1:155194516-155194887	K562	blood:	n/a	n/a
38	BHLHE40	chr1:155193025-155193187	K562	blood:	n/a	n/a
39	BHLHE40	chr1:155189313-155189626	K562	blood:	n/a	n/a
40	BRCA1	chr1:155196161-155198275	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr1:155193712-155193748	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr1:155197279-155197444	HepG2	liver:	n/a	n/a
43	BRCA1	chr1:155196488-155197307	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr1:155197194-155197495	GM12878	blood:	n/a	n/a
45	BRF1	chr1:155194594-155195036	Hela-S3	cervix:	n/a	n/a
46	CBX3	chr1:155196179-155198094	K562	blood:	n/a	n/a
47	CBX3	chr1:155188581-155189108	K562	blood:	n/a	n/a
48	CBX3	chr1:155201138-155201473	K562	blood:	n/a	n/a
49	CCNT2	chr1:155196761-155197454	K562	blood:	n/a	n/a
50	CEBPB	chr1:155194507-155194902	IMR90	lung:	n/a	n/a

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155197152-155197202	SKMC	muscle:	n/a
2	chr1:155198391-155198441	PrEC	prostate:	n/a
3	chr1:155188904-155188954	HIPEpiC	eye:	n/a
4	chr1:155189053-155189103	HIPEpiC	eye:	n/a
5	chr1:155197152-155197202	SKMC	muscle:	n/a
6	chr1:155198391-155198441	PrEC	prostate:	n/a
7	chr1:155188904-155188954	HIPEpiC	eye:	n/a
8	chr1:155189053-155189103	HIPEpiC	eye:	n/a
9	chr1:155197753-155197803	AG04450	lung:	fetal
10	chr1:155197843-155197893	PFSK-1	brain:	n/a
11	chr1:155197384-155197434	HCPEpiC	choroid plexus:	n/a
12	chr1:155197384-155197434	GM12891	blood:	n/a
13	chr1:155195300-155195350	HUVEC	blood vessel:	n/a
14	chr1:155197279-155197329	Caco-2	colon:	n/a
15	chr1:155195300-155195350	AG04449	skin:	fetal
16	chr1:155197564-155197614	GM19239	blood:	n/a
17	chr1:155197152-155197202	SK-N-SH_RA	brain:	n/a
18	chr1:155197511-155197561	HEK293	kidney:	embryo
19	chr1:155197843-155197893	SAEC	small airway:	n/a
20	chr1:155197843-155197893	HIPEpiC	eye:	n/a
21	chr1:155202674-155202724	NH-A	brain:	n/a
22	chr1:155188904-155188954	ProgFib	skin:	n/a
23	chr1:155197843-155197893	HRPEpiC	eye:	n/a
24	chr1:155197753-155197803	LNCaP	prostate:	n/a
25	chr1:155188904-155188954	NHBE	bronchial:	n/a
26	chr1:155202685-155202735	SKMC	muscle:	n/a
27	chr1:155197511-155197561	HCPEpiC	choroid plexus:	n/a
28	chr1:155197502-155197552	AG10803	skin:	n/a
29	chr1:155188904-155188954	HUVEC	blood vessel:	n/a
30	chr1:155197511-155197561	MCF-7	breast:	n/a
31	chr1:155197692-155197742	HL-60	blood:	n/a
32	chr1:155188904-155188954	RPTEC	kidney:	n/a
33	chr1:155197753-155197803	HAEpiC	amniotic membrane:	n/a
34	chr1:155198391-155198441	AG04450	lung:	fetal
35	chr1:155188904-155188954	HMEC	breast:	n/a
36	chr1:155200357-155200407	A549	lung:	n/a
37	chr1:155189053-155189103	AoSMC	blood vessel:	n/a
38	chr1:155197152-155197202	A549	lung:	n/a
39	chr1:155197511-155197561	AG10803	skin:	n/a
40	chr1:155202674-155202724	PrEC	prostate:	n/a
41	chr1:155197502-155197552	SK-N-SH_RA	brain:	n/a
42	chr1:155197384-155197434	MCF-7	breast:	n/a
43	chr1:155188904-155188954	A549	lung:	n/a
44	chr1:155197843-155197893	GM06990	blood:	n/a
45	chr1:155198391-155198441	HCM	heart:	n/a
46	chr1:155197843-155197893	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:155197279-155197329	Hepatocyte	liver:	n/a
48	chr1:155197152-155197202	HAEpiC	amniotic membrane:	n/a
49	chr1:155200357-155200407	H1-hESC	embryonic stem cell:	embryo
50	chr1:155198391-155198441	Hela-S3	cervix:	n/a

(count:120 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:155196896..155197597-chr6:27860436..27861086,3	Hela-S3	cervix:
2	chr1:155183199..155186042-chr1:155209567..155212010,2	K562	blood:
3	chr1:155196696..155197276-chr13:99738346..99738910,2	Hela-S3	cervix:
4	chr1:155191881..155194028-chr1:155195597..155197149,2	MCF-7	breast:
5	chr1:155196402..155197362-chr16:89557375..89557938,2	Hela-S3	cervix:
6	chr1:155200769..155203124-chr1:155222632..155225230,2	K562	blood:
7	chr1:155196583..155198165-chr11:66405632..66407790,2	MCF-7	breast:
8	chr1:155196871..155197993-chr1:155213605..155215251,6	Hela-S3	cervix:
9	chr1:155196896..155197663-chr2:219264116..219264834,2	Hela-S3	cervix:
10	chr1:155194530..155197215-chr1:155242223..155244850,3	K562	blood:
11	chr1:148241110..148242082-chr1:155197046..155197929,2	Hela-S3	cervix:
12	chr1:155189654..155191436-chr1:155193964..155195496,2	K562	blood:
13	chr1:155157869..155162042-chr1:155196023..155198721,3	MCF-7	breast:
14	chr1:155148495..155149762-chr1:155196236..155196972,5	MCF-7	breast:
15	chr1:155165613..155168147-chr1:155195516..155197930,3	K562	blood:
16	chr1:155193188..155195403-chr1:155211959..155214156,2	K562	blood:
17	chr1:155195759..155198427-chr1:155276824..155279493,2	K562	blood:
18	chr1:155187581..155189617-chr1:155195998..155199387,4	MCF-7	breast:
19	chr1:155196978..155198560-chr1:155209319..155211586,2	K562	blood:
20	chr1:155196898..155197468-chr17:62502350..62503311,2	Hela-S3	cervix:
21	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
22	chr1:155196819..155197743-chr6:10414963..10415769,2	Hela-S3	cervix:
23	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
24	chr1:155200890..155203810-chr1:155211180..155212788,2	MCF-7	breast:
25	chr1:155195750..155198407-chr1:155276763..155279696,2	K562	blood:
26	chr1:155192655..155194574-chr1:155230487..155232931,2	MCF-7	breast:
27	chr1:155196466..155197461-chr20:32254440..32254956,2	Hela-S3	cervix:
28	chr1:117602404..117603075-chr1:155196850..155197424,2	Hela-S3	cervix:
29	chr1:155022097..155024403-chr1:155195809..155198176,3	MCF-7	breast:
30	chr1:45987235..45987946-chr1:155196847..155197356,2	Hela-S3	cervix:
31	chr1:155148823..155149771-chr1:155196116..155196635,2	K562	blood:
32	chr1:155196998..155197555-chr17:79480649..79481503,2	Hela-S3	cervix:
33	chr1:155196887..155197570-chr4:15003910..15004860,2	Hela-S3	cervix:
34	chr1:155196805..155197610-chr9:131486404..131487395,2	Hela-S3	cervix:
35	chr1:155195600..155203152-chr1:155209955..155216515,9	MCF-7	breast:
36	chr1:155197055..155197697-chr9:131790029..131790590,2	Hela-S3	cervix:
37	chr1:155195512..155198962-chr1:155200125..155202735,3	MCF-7	breast:
38	chr1:155176324..155177310-chr1:155196150..155197130,9	K562	blood:
39	chr1:155196864..155197535-chr16:2731953..2732843,2	Hela-S3	cervix:
40	chr1:155196821..155197823-chr1:155213854..155215193,5	NB4	blood:
41	chr1:155197117..155197977-chr1:155214252..155214763,4	MCF-7	breast:
42	chr1:155197037..155198006-chr19:18392015..18392606,2	Hela-S3	cervix:
43	chr1:155144282..155146428-chr1:155196994..155199261,3	K562	blood:
44	chr1:155187157..155191331-chr1:155209670..155212928,5	MCF-7	breast:
45	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:
46	chr1:155176536..155177291-chr1:155196359..155196911,2	MCF-7	breast:
47	chr1:155197215..155198001-chr17:7122908..7123728,2	Hela-S3	cervix:
48	chr1:155196791..155199483-chr1:155201481..155203519,3	K562	blood:
49	chr1:155162153..155164913-chr1:155193095..155194598,2	MCF-7	breast:
50	chr1:155098008..155101008-chr1:155194682..155198746,4	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GBA-1	chr1:155201063-155203428	NONHSAT006710

No data

Variant related genes	Relation type
GBA	TF binding region
MTX1P1	TF binding region
ENSG00000236263	TF binding region
GBAP1	TF binding region
GBA	CpG island
MTX1P1	CpG island
ENSG00000236263	CpG island
GBAP1	CpG island
ENSG00000072778	chromatin interactions
ENSG00000074266	chromatin interactions
ENSG00000255062	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000137203	chromatin interactions
ENSG00000089009	chromatin interactions
ENSG00000163374	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000125967	chromatin interactions
ENSG00000203667	chromatin interactions
ENSG00000173933	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000144579	chromatin interactions
ENSG00000163462	chromatin interactions
ENSG00000185499	chromatin interactions
ENSG00000067560	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000223478	chromatin interactions
ENSG00000163463	chromatin interactions
ENSG00000273088	chromatin interactions
ENSG00000229848	chromatin interactions
ENSG00000145022	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000139218	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000177628	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000221838	chromatin interactions
ENSG00000147124	chromatin interactions
ENSG00000197912	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000243364	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000160446	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000236675	chromatin interactions
ENSG00000137449	chromatin interactions
ENSG00000148337	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000116830	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000160767	chromatin interactions
ENSG00000089693	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000231064	chromatin interactions
ENSG00000166508	chromatin interactions
ENSG00000160752	chromatin interactions
ENSG00000119953	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000088387	chromatin interactions
ENSG00000216109	chromatin interactions
ENSG00000173171	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000251246	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000143630	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000148341	chromatin interactions
ENSG00000056586	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000271748	chromatin interactions
ENSG00000116761	chromatin interactions
ENSG00000132676	chromatin interactions
ENSG00000132535	chromatin interactions
ENSG00000112679	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000167977	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000100353	chromatin interactions

Extended variants
information (count: 744 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386591687	chr1:155185951-155185952	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs376569399	chr1:155186058-155186059	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs566265775	chr1:155186152-155186153	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs547825971	chr1:155186203-155186204	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540004037	chr1:155186204-155186205	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570781371	chr1:155186229-155186230	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369485977	chr1:155186278-155186279	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552323577	chr1:155186296-155186297	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs570540826	chr1:155186378-155186379	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148168407	chr1:155186381-155186382	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs72376046	chr1:155186382-155186383	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs539449846	chr1:155186452-155186453	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556660530	chr1:155186462-155186463	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs556116260	chr1:155186463-155186464	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs3125563	chr1:155186503-155186504	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574692025	chr1:155186509-155186510	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs147791517	chr1:155186551-155186552	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553746443	chr1:155186569-155186570	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs571922826	chr1:155186577-155186578	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570037478	chr1:155186600-155186601	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs535682677	chr1:155186602-155186603	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs3125566	chr1:155186636-155186637	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372959451	chr1:155186648-155186649	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs184043244	chr1:155186669-155186670	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs375966138	chr1:155186716-155186717	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs28445596	chr1:155186729-155186730	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs1057941	chr1:155186742-155186743	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs534945574	chr1:155186858-155186859	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs576110621	chr1:155187123-155187124	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs1135668	chr1:155187144-155187145	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs543492157	chr1:155187159-155187160	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs562109299	chr1:155187191-155187192	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs529224941	chr1:155187197-155187198	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs548079483	chr1:155187246-155187247	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs560059210	chr1:155187273-155187274	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs189023460	chr1:155187274-155187275	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs551989029	chr1:155187286-155187287	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs576819611	chr1:155187347-155187348	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs545472020	chr1:155187371-155187372	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs150329785	chr1:155187391-155187392	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs562636829	chr1:155187395-155187396	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs138010627	chr1:155187409-155187410	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs376060298	chr1:155187537-155187538	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs568059848	chr1:155187572-155187573	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs535074369	chr1:155187608-155187609	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs554053793	chr1:155187659-155187660	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs59692280	chr1:155187668-155187669	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539284747	chr1:155187693-155187694	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs557522717	chr1:155187700-155187701	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs576176716	chr1:155187725-155187726	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1377 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155188200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:155179600-155189000	Weak transcription	Stomach Mucosa	stomach
3	chr1:155179600-155189200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:155179600-155189200	Weak transcription	Colonic Mucosa	Colon
5	chr1:155179600-155189200	Weak transcription	Psoas Muscle	Psoas
6	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
7	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
9	chr1:155179600-155196600	Weak transcription	Gastric	stomach
10	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
11	chr1:155179800-155188600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:155179800-155188600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:155179800-155188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:155179800-155188800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:155179800-155188800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:155179800-155189000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
18	chr1:155180000-155188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:155180000-155188600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:155180000-155188600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:155180000-155188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:155180000-155188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:155180000-155188800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:155180000-155189200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:155180000-155194000	Weak transcription	HUVEC	blood vessel
26	chr1:155180000-155195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:155180200-155188200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:155180200-155188600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:155180200-155188600	Weak transcription	Fetal Kidney	kidney
30	chr1:155180200-155188600	Weak transcription	NHDF-Ad	bronchial
31	chr1:155180200-155188800	Weak transcription	NH-A	brain
32	chr1:155180200-155194000	Weak transcription	HSMM	muscle
33	chr1:155180600-155188600	Weak transcription	Hela-S3	cervix
34	chr1:155180600-155189000	Weak transcription	GM12878-XiMat	blood
35	chr1:155180600-155189600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:155180600-155195600	Weak transcription	HepG2	liver
37	chr1:155180800-155188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:155180800-155188600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:155180800-155188600	Weak transcription	K562	blood
40	chr1:155180800-155189000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:155181000-155189000	Weak transcription	Fetal Lung	lung
42	chr1:155182200-155187800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:155182200-155188600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:155182200-155188800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:155182200-155189200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:155182200-155195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:155182200-155196400	Weak transcription	Esophagus	oesophagus
48	chr1:155182200-155196600	Weak transcription	Lung	lung
49	chr1:155182400-155188600	Weak transcription	Liver	Liver
50	chr1:155182400-155188800	Weak transcription	Ovary	ovary

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