Variant report

Variant	nsv537818
Chromosome Location	chr5:98241627-98279192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1468)
CpG islands
(count:671)
Chromatin interactive
region (count:78)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:98241433-98242620	K562	blood:	n/a	n/a
2	ARID3A	chr5:98266535-98267028	K562	blood:	n/a	n/a
3	ARID3A	chr5:98264539-98266038	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:98264508-98264681	K562	blood:	n/a	n/a
5	ARID3A	chr5:98244520-98244612	K562	blood:	n/a	n/a
6	ARID3A	chr5:98264908-98265939	K562	blood:	n/a	n/a
7	ARID3A	chr5:98274132-98274465	HepG2	liver:	n/a	n/a
8	ATF1	chr5:98264410-98265650	K562	blood:	n/a	chr5:98264661-98264675
9	ATF1	chr5:98266148-98266224	K562	blood:	n/a	n/a
10	ATF2	chr5:98264198-98265765	GM12878	blood:	n/a	chr5:98264661-98264675
11	ATF2	chr5:98262812-98263803	GM12878	blood:	n/a	chr5:98262913-98262920
12	ATF2	chr5:98268935-98269701	GM12878	blood:	n/a	n/a
13	ATF2	chr5:98268996-98269649	GM12878	blood:	n/a	n/a
14	ATF2	chr5:98264566-98264936	H1-hESC	embryonic stem cell:	n/a	chr5:98264661-98264675
15	ATF2	chr5:98264751-98265755	GM12878	blood:	n/a	n/a
16	ATF3	chr5:98265063-98265645	K562	blood:	n/a	n/a
17	ATF3	chr5:98264740-98265103	A549	lung:	n/a	chr5:98264815-98264824
18	ATF3	chr5:98264757-98264991	K562	blood:	n/a	chr5:98264815-98264824
19	BACH1	chr5:98264397-98265295	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr5:98264418-98264580	K562	blood:	n/a	n/a
21	BACH1	chr5:98261416-98261450	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr5:98266640-98266971	K562	blood:	n/a	n/a
23	BACH1	chr5:98261371-98261719	K562	blood:	n/a	n/a
24	BATF	chr5:98265083-98265535	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:98265136-98265540	GM12878	blood:	n/a	chr5:98265227-98265240
26	BCL11A	chr5:98265087-98265512	GM12878	blood:	n/a	chr5:98265227-98265240
27	BCL3	chr5:98264206-98264740	A549	lung:	n/a	chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408
28	BCL3	chr5:98264142-98265493	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
29	BCL3	chr5:98264764-98265777	A549	lung:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
30	BCL3	chr5:98264165-98264714	A549	lung:	n/a	chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408
31	BCL3	chr5:98264737-98265602	A549	lung:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
32	BCLAF1	chr5:98264244-98265731	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
33	BCLAF1	chr5:98263979-98265726	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264044-98264057 chr5:98264224-98264233 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
34	BCLAF1	chr5:98262785-98263739	GM12878	blood:	n/a	n/a
35	BCLAF1	chr5:98264435-98265694	K562	blood:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
36	BCLAF1	chr5:98262860-98263852	GM12878	blood:	n/a	n/a
37	BHLHE40	chr5:98262909-98265624	K562	blood:	n/a	chr5:98265224-98265240 chr5:98265486-98265502
38	BHLHE40	chr5:98263788-98264127	HepG2	liver:	n/a	n/a
39	BHLHE40	chr5:98263472-98265737	GM12878	blood:	n/a	chr5:98265224-98265240 chr5:98265486-98265502
40	BHLHE40	chr5:98264474-98265589	HepG2	liver:	n/a	chr5:98265224-98265240 chr5:98265486-98265502
41	BHLHE40	chr5:98269150-98269850	GM12878	blood:	n/a	n/a
42	BHLHE40	chr5:98266197-98266471	GM12878	blood:	n/a	n/a
43	BRCA1	chr5:98264497-98265617	HepG2	liver:	n/a	n/a
44	BRCA1	chr5:98264616-98265617	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr5:98267509-98267548	GM12878	blood:	n/a	n/a
46	BRCA1	chr5:98264515-98264618	GM12878	blood:	n/a	n/a
47	BRCA1	chr5:98263521-98263567	GM12878	blood:	n/a	n/a
48	BRCA1	chr5:98264821-98264875	H1-hESC	embryonic stem cell:	n/a	n/a
49	CBX3	chr5:98264452-98265658	K562	blood:	n/a	n/a
50	CBX3	chr5:98265097-98265548	K562	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:98264283-98264333	HRPEpiC	eye:	n/a
2	chr5:98263747-98263797	ovcar-3	ovarian:	n/a
3	chr5:98265241-98265291	HUVEC	blood vessel:	n/a
4	chr5:98265241-98265291	HCM	heart:	n/a
5	chr5:98247404-98247454	NHBE	bronchial:	n/a
6	chr5:98263013-98263063	HCT-116	colon:	n/a
7	chr5:98264283-98264333	HEK293	kidney:	embryo
8	chr5:98269394-98269444	HEK293	kidney:	embryo
9	chr5:98264283-98264333	HEEpiC	esophagus:	n/a
10	chr5:98264478-98264528	AG09319	gingival:	n/a
11	chr5:98269394-98269444	AG09319	gingival:	n/a
12	chr5:98265241-98265291	K562	blood:	n/a
13	chr5:98264478-98264528	HNPCEpiC	eye:	n/a
14	chr5:98263747-98263797	PANC-1	pancreas:	n/a
15	chr5:98265530-98265580	NT2-D1	testis:	n/a
16	chr5:98264283-98264333	HCPEpiC	choroid plexus:	n/a
17	chr5:98263747-98263797	HNPCEpiC	eye:	n/a
18	chr5:98263417-98263467	SK-N-SH	brain:	n/a
19	chr5:98264283-98264333	NHBE	bronchial:	n/a
20	chr5:98263417-98263467	HAEpiC	amniotic membrane:	n/a
21	chr5:98263013-98263063	GM12891	blood:	n/a
22	chr5:98260405-98260455	SK-N-SH	brain:	n/a
23	chr5:98265241-98265291	HCT-116	colon:	n/a
24	chr5:98264283-98264333	ProgFib	skin:	n/a
25	chr5:98269394-98269444	MCF-7	breast:	n/a
26	chr5:98247404-98247454	HRE	kidney:	n/a
27	chr5:98265530-98265580	ovcar-3	ovarian:	n/a
28	chr5:98260405-98260455	AoSMC	blood vessel:	n/a
29	chr5:98263747-98263797	HMEC	breast:	n/a
30	chr5:98265264-98265314	SK-N-SH	brain:	n/a
31	chr5:98265241-98265291	AG04449	skin:	fetal
32	chr5:98263747-98263797	SAEC	small airway:	n/a
33	chr5:98264283-98264333	BE2_C	brain:	n/a
34	chr5:98265530-98265580	HRPEpiC	eye:	n/a
35	chr5:98264478-98264528	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:98265241-98265291	NHDF-neo	bronchial:	n/a
37	chr5:98263013-98263063	MCF10A-Er-Src	breast:	n/a
38	chr5:98247404-98247454	A549	lung:	n/a
39	chr5:98263417-98263467	IMR90	lung:	fetal
40	chr5:98265264-98265314	SK-N-SH_RA	brain:	n/a
41	chr5:98264478-98264528	HMEC	breast:	n/a
42	chr5:98263417-98263467	Caco-2	colon:	n/a
43	chr5:98263013-98263063	HMEC	breast:	n/a
44	chr5:98265241-98265291	Caco-2	colon:	n/a
45	chr5:98264478-98264528	HEK293	kidney:	embryo
46	chr5:98263747-98263797	MCF-7	breast:	n/a
47	chr5:98265241-98265291	U87	brain:	n/a
48	chr5:98269394-98269444	HEEpiC	esophagus:	n/a
49	chr5:98263417-98263467	SK-N-SH_RA	brain:	n/a
50	chr5:98264283-98264333	HNPCEpiC	eye:	n/a

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:98247883..98250755-chr5:98381007..98383241,2	K562	blood:
2	chr5:98241310..98242211-chr5:98395923..98396741,3	MCF-7	breast:
3	chr3:49157716..49158699-chr5:98264536..98265045,2	HCT-116	colon:
4	chr5:98272097..98275128-chr5:98275593..98280478,6	MCF-7	breast:
5	chr5:98266485..98269344-chr6:26198000..26199535,2	MCF-7	breast:
6	chr2:101178932..101179770-chr5:98264779..98265361,2	Hela-S3	cervix:
7	chr13:107219962..107220504-chr5:98264951..98265593,2	Hela-S3	cervix:
8	chr5:98249580..98254954-chr5:98261706..98266693,12	MCF-7	breast:
9	chr5:98250278..98252358-chr5:98294298..98296152,2	K562	blood:
10	chr5:43483467..43484074-chr5:98264949..98265508,2	Hela-S3	cervix:
11	chr5:98265027..98268409-chr5:98365166..98367986,4	K562	blood:
12	chr5:98264902..98266916-chr5:98381565..98384690,3	K562	blood:
13	chr5:98258735..98261522-chr5:98261609..98263203,2	MCF-7	breast:
14	chr5:98266316..98268754-chr5:98386981..98389928,2	MCF-7	breast:
15	chr5:98250951..98253126-chr5:98356611..98358893,2	K562	blood:
16	chr5:98245669..98247917-chr5:98393719..98395372,2	K562	blood:
17	chr5:98257599..98259877-chr5:98263481..98265627,3	MCF-7	breast:
18	chr5:98243145..98245270-chr5:98261577..98263957,2	MCF-7	breast:
19	chr5:98265097..98266791-chr5:98309384..98311683,2	K562	blood:
20	chr5:98264846..98265427-chr6:26056184..26056952,2	Hela-S3	cervix:
21	chr5:98240910..98242219-chr5:98367905..98368817,11	MCF-7	breast:
22	chr19:12845070..12845760-chr5:98264143..98265041,2	Hela-S3	cervix:
23	chr5:96142600..96144164-chr5:98264927..98267832,2	K562	blood:
24	chr5:98269604..98273895-chr5:98275576..98277950,6	K562	blood:
25	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
26	chr5:98241174..98243544-chr5:98361759..98364961,3	K562	blood:
27	chr5:98263971..98264737-chr7:120590626..120591131,2	Hela-S3	cervix:
28	chr5:98255571..98257201-chr5:98257380..98259074,2	K562	blood:
29	chr14:81687040..81687872-chr5:98262679..98263179,2	Hela-S3	cervix:
30	chr5:98274709..98276765-chr5:98282972..98284478,2	K562	blood:
31	chr5:98262538..98264376-chr5:98385068..98386574,2	K562	blood:
32	chr5:98206898..98209419-chr5:98245163..98247192,2	K562	blood:
33	chr5:98249134..98251200-chr5:98262400..98265310,3	K562	blood:
34	chr12:46120952..46121817-chr5:98263968..98264550,2	HCT-116	colon:
35	chr15:83478349..83478996-chr5:98264221..98265198,2	Hela-S3	cervix:
36	chr5:98263162..98264704-chr5:98365544..98368385,2	K562	blood:
37	chr5:98254296..98256757-chr5:98393861..98395478,2	K562	blood:
38	chr5:98275105..98276792-chr5:98280634..98283981,3	K562	blood:
39	chr5:98275762..98278033-chr5:98288005..98290423,2	K562	blood:
40	chr3:48487968..48488563-chr5:98263988..98264982,2	Hela-S3	cervix:
41	chr5:98265288..98267597-chr5:98314726..98317352,2	K562	blood:
42	chr5:98276533..98278644-chr5:98288923..98290589,2	K562	blood:
43	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
44	chr2:140667169..140668129-chr5:98250906..98251510,2	MCF-7	breast:
45	chr5:98204205..98207501-chr5:98263457..98266267,3	MCF-7	breast:
46	chr5:98238981..98243002-chr5:98262998..98267488,6	MCF-7	breast:
47	chr5:98252569..98255536-chr5:98389385..98390974,2	K562	blood:
48	chr5:98235646..98238054-chr5:98241311..98244190,2	K562	blood:
49	chr5:98241328..98242320-chr5:98395720..98396727,8	K562	blood:
50	chr5:98237133..98240076-chr5:98262664..98264455,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-1	chr5:98265801-98266772	NONHSAT102970
2	lnc-RGMB-1	chr5:98265815-98265924	NONHSAT102972
3	lnc-RGMB-1	chr5:98265713-98265745	NONHSAT102972
4	lnc-RGMB-1	chr5:98264925-98265427	NONHSAT102971
5	lnc-RGMB-1	chr5:98264884-98265015	NONHSAT102970
6	lnc-RGMB-1	chr5:98264838-98266713	NONHSAT102967
7	lnc-RGMB-1	chr5:98270246-98271477	NONHSAT102972
8	lnc-RGMB-1	chr5:98266027-98266064	NONHSAT102972
9	lnc-RGMB-1	chr5:98264861-98270036	NONHSAT102968
10	lnc-RGMB-1	chr5:98264875-98265015	ENSG00000248489.1

No data

Variant related genes	Relation type
ENSG00000248489	TF binding region
CHD1	TF binding region
ENSG00000200351	TF binding region
ENSG00000248489	CpG island
CHD1	CpG island
ENSG00000200351	CpG island
ENSG00000196866	chromatin interactions
ENSG00000200351	chromatin interactions
ENSG00000123144	chromatin interactions
ENSG00000172046	chromatin interactions
ENSG00000115539	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000103769	chromatin interactions
ENSG00000071243	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000248489	chromatin interactions
ENSG00000115129	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000134884	chromatin interactions
ENSG00000241597	chromatin interactions
ENSG00000273015	chromatin interactions
ENSG00000177854	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000113369	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000243335	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000122376	chromatin interactions
ENSG00000183137	chromatin interactions
ENSG00000172534	chromatin interactions
ENSG00000153922	chromatin interactions
ENSG00000148672	chromatin interactions

Extended variants
information (count: 1393 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1393 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571677059	chr5:98241709-98241710	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs325196	chr5:98241718-98241719	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181961337	chr5:98241749-98241750	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145371063	chr5:98241765-98241766	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200575702	chr5:98241796-98241797	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148487181	chr5:98241800-98241801	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537325943	chr5:98241814-98241815	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555724441	chr5:98241850-98241851	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574003964	chr5:98241851-98241852	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186296532	chr5:98241862-98241863	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369179630	chr5:98241868-98241869	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189852402	chr5:98241877-98241878	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530763807	chr5:98241910-98241911	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577619100	chr5:98241994-98241995	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549274691	chr5:98241997-98241998	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370542253	chr5:98242004-98242005	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs180837867	chr5:98242005-98242006	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563281138	chr5:98242049-98242050	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538598145	chr5:98242062-98242063	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186722647	chr5:98242069-98242070	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574923355	chr5:98242095-98242096	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542238348	chr5:98242097-98242098	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550860487	chr5:98242109-98242110	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112845408	chr5:98242129-98242130	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528772370	chr5:98242135-98242136	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575273187	chr5:98242137-98242138	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs162340	chr5:98242182-98242183	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs326464	chr5:98242203-98242204	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs532627979	chr5:98242215-98242216	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536467874	chr5:98242224-98242225	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191111951	chr5:98242226-98242227	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569250411	chr5:98242272-98242273	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145394980	chr5:98242298-98242299	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566272126	chr5:98242300-98242301	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548617793	chr5:98242363-98242364	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567525438	chr5:98242381-98242382	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538343280	chr5:98242459-98242460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs137937420	chr5:98242501-98242502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183779176	chr5:98242534-98242535	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577797348	chr5:98242579-98242580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs140864231	chr5:98242649-98242650	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556753423	chr5:98242654-98242655	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377373318	chr5:98242667-98242668	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143036246	chr5:98242727-98242728	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568844731	chr5:98242771-98242772	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542179413	chr5:98242906-98242907	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560557539	chr5:98242908-98242909	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573200294	chr5:98242918-98242919	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540612527	chr5:98242939-98242940	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs565458389	chr5:98242953-98242954	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	20837533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1941 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98189800-98241800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:98190400-98243800	Strong transcription	Dnd41	blood
4	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:98215000-98263000	Weak transcription	Esophagus	oesophagus
6	chr5:98222000-98247000	Weak transcription	Fetal Heart	heart
7	chr5:98225800-98258400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:98228200-98259200	Weak transcription	Spleen	Spleen
9	chr5:98228400-98259200	Weak transcription	Gastric	stomach
10	chr5:98228400-98259400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:98228400-98263000	Weak transcription	Aorta	Aorta
12	chr5:98232000-98243800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:98232000-98247000	Weak transcription	Right Ventricle	heart
14	chr5:98232000-98254200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:98232000-98258200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:98232000-98259200	Weak transcription	Pancreas	Pancrea
17	chr5:98233600-98245200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:98235000-98247000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:98235000-98262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:98235200-98261600	Weak transcription	Fetal Kidney	kidney
21	chr5:98235400-98262600	Weak transcription	Fetal Brain Male	brain
22	chr5:98236000-98256800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:98236400-98256600	Weak transcription	Lung	lung
24	chr5:98236400-98258400	Weak transcription	Brain Germinal Matrix	brain
25	chr5:98236400-98263200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:98236600-98243800	Weak transcription	Thymus	Thymus
27	chr5:98236600-98247000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:98236600-98248000	Weak transcription	Fetal Intestine Small	intestine
29	chr5:98236600-98248000	Weak transcription	Fetal Stomach	stomach
30	chr5:98236600-98249600	Weak transcription	Psoas Muscle	Psoas
31	chr5:98236600-98257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:98236600-98259000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:98236600-98261000	Weak transcription	Small Intestine	intestine
34	chr5:98236600-98261600	Weak transcription	Fetal Brain Female	brain
35	chr5:98236600-98263000	Weak transcription	Ovary	ovary
36	chr5:98236800-98246400	Weak transcription	Brain Anterior Caudate	brain
37	chr5:98236800-98247000	Weak transcription	Brain Angular Gyrus	brain
38	chr5:98236800-98248000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:98236800-98249800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:98236800-98253600	Weak transcription	Left Ventricle	heart
41	chr5:98236800-98254000	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:98236800-98256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:98236800-98263000	Weak transcription	Brain Substantia Nigra	brain
44	chr5:98237000-98245200	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:98237000-98248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:98237000-98252800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:98237000-98256000	Weak transcription	HSMMtube	muscle
48	chr5:98237000-98258600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:98237000-98259200	Weak transcription	Colonic Mucosa	Colon
50	chr5:98237200-98242000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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