Variant report

Variant	nsv888830
Chromosome Location	chr7:101926788-101957518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1514)
CpG islands
(count:1770)
Chromatin interactive
region (count:75)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1514 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:101950666-101950911	HepG2	liver:	n/a	n/a
2	ATF2	chr7:101933023-101933334	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr7:101950037-101951107	GM12878	blood:	n/a	n/a
4	ATF2	chr7:101948683-101949432	GM12878	blood:	n/a	n/a
5	ATF2	chr7:101948664-101949292	GM12878	blood:	n/a	n/a
6	ATF2	chr7:101927669-101928058	GM12878	blood:	n/a	n/a
7	ATF2	chr7:101934447-101935309	GM12878	blood:	n/a	n/a
8	ATF2	chr7:101934617-101935095	GM12878	blood:	n/a	n/a
9	ATF2	chr7:101932966-101933741	GM12878	blood:	n/a	n/a
10	ATF2	chr7:101932194-101932667	GM12878	blood:	n/a	n/a
11	ATF2	chr7:101950114-101951002	GM12878	blood:	n/a	n/a
12	ATF2	chr7:101927721-101928042	GM12878	blood:	n/a	n/a
13	BACH1	chr7:101950352-101950540	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr7:101933088-101933320	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr7:101935061-101935073	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:101929546-101929960	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr7:101930205-101930668	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr7:101929768-101929916	K562	blood:	n/a	n/a
19	BACH1	chr7:101944097-101944551	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr7:101950141-101951045	GM12878	blood:	n/a	n/a
21	BATF	chr7:101934842-101935198	GM12878	blood:	n/a	n/a
22	BATF	chr7:101950631-101951007	GM12878	blood:	n/a	n/a
23	BATF	chr7:101927734-101927953	GM12878	blood:	n/a	n/a
24	BATF	chr7:101941360-101941695	GM12878	blood:	n/a	n/a
25	BCL11A	chr7:101950258-101950561	GM12878	blood:	n/a	chr7:101950383-101950392 chr7:101950380-101950389
26	BCL11A	chr7:101934677-101935276	GM12878	blood:	n/a	chr7:101934935-101934944
27	BCL11A	chr7:101950131-101951007	GM12878	blood:	n/a	chr7:101950383-101950392 chr7:101950380-101950389 chr7:101950171-101950179
28	BCL3	chr7:101950178-101950954	GM12878	blood:	n/a	chr7:101950383-101950392 chr7:101950380-101950389
29	BCL3	chr7:101950087-101951008	GM12878	blood:	n/a	chr7:101950383-101950392 chr7:101950380-101950389 chr7:101950171-101950179
30	BCL3	chr7:101934706-101935237	GM12878	blood:	n/a	chr7:101934935-101934944
31	BCL3	chr7:101948805-101949270	GM12878	blood:	n/a	n/a
32	BCLAF1	chr7:101934439-101935371	GM12878	blood:	n/a	chr7:101934935-101934944
33	BCLAF1	chr7:101950020-101951077	GM12878	blood:	n/a	chr7:101950383-101950392 chr7:101950380-101950389 chr7:101950171-101950179
34	BCLAF1	chr7:101948752-101949457	GM12878	blood:	n/a	n/a
35	BCLAF1	chr7:101948650-101949487	GM12878	blood:	n/a	n/a
36	BCLAF1	chr7:101934466-101935271	GM12878	blood:	n/a	chr7:101934935-101934944
37	BCLAF1	chr7:101932078-101932752	GM12878	blood:	n/a	chr7:101932316-101932325
38	BCLAF1	chr7:101949966-101951091	GM12878	blood:	n/a	chr7:101950383-101950392 chr7:101950380-101950389 chr7:101950171-101950179
39	BHLHE40	chr7:101950119-101951027	GM12878	blood:	n/a	n/a
40	BHLHE40	chr7:101930201-101930310	K562	blood:	n/a	n/a
41	BHLHE40	chr7:101927712-101928121	GM12878	blood:	n/a	n/a
42	BHLHE40	chr7:101930107-101930614	GM12878	blood:	n/a	chr7:101930365-101930381
43	BHLHE40	chr7:101950330-101950363	K562	blood:	n/a	n/a
44	BHLHE40	chr7:101948685-101949311	GM12878	blood:	n/a	n/a
45	BHLHE40	chr7:101927982-101928018	K562	blood:	n/a	n/a
46	BHLHE40	chr7:101934687-101935239	GM12878	blood:	n/a	n/a
47	BHLHE40	chr7:101929495-101929593	GM12878	blood:	n/a	n/a
48	BHLHE40	chr7:101954727-101954917	GM12878	blood:	n/a	n/a
49	BHLHE40	chr7:101950700-101950909	HepG2	liver:	n/a	n/a
50	BRCA1	chr7:101944321-101944521	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101927846-101927896	AG04449	skin:	fetal
2	chr7:101927846-101927896	AG04449	skin:	fetal
3	chr7:101940485-101940535	SK-N-SH	brain:	n/a
4	chr7:101931088-101931138	NH-A	brain:	n/a
5	chr7:101927973-101928023	SK-N-MC	brain:	n/a
6	chr7:101928206-101928256	Hela-S3	cervix:	n/a
7	chr7:101942851-101942901	ProgFib	skin:	n/a
8	chr7:101936430-101936480	NHDF-neo	bronchial:	n/a
9	chr7:101938115-101938165	HUVEC	blood vessel:	n/a
10	chr7:101931088-101931138	HepG2	liver:	n/a
11	chr7:101944430-101944480	HNPCEpiC	eye:	n/a
12	chr7:101942851-101942901	HRCEpiC	kidney:	n/a
13	chr7:101947698-101947748	GM19239	blood:	n/a
14	chr7:101947698-101947748	HRPEpiC	eye:	n/a
15	chr7:101930366-101930416	U87	brain:	n/a
16	chr7:101936318-101936368	PFSK-1	brain:	n/a
17	chr7:101928560-101928610	AG09309	skin:	n/a
18	chr7:101934892-101934942	GM12878	blood:	n/a
19	chr7:101927973-101928023	IMR90	lung:	fetal
20	chr7:101943788-101943838	ProgFib	skin:	n/a
21	chr7:101927973-101928023	GM06990	blood:	n/a
22	chr7:101940485-101940535	Caco-2	colon:	n/a
23	chr7:101936230-101936280	SKMC	muscle:	n/a
24	chr7:101936362-101936412	U87	brain:	n/a
25	chr7:101931734-101931784	U87	brain:	n/a
26	chr7:101936318-101936368	SKMC	muscle:	n/a
27	chr7:101936527-101936577	NHDF-neo	bronchial:	n/a
28	chr7:101936362-101936412	AG09319	gingival:	n/a
29	chr7:101944275-101944325	T-47D	breast:	n/a
30	chr7:101936318-101936368	U87	brain:	n/a
31	chr7:101943005-101943055	GM06990	blood:	n/a
32	chr7:101931088-101931138	Caco-2	colon:	n/a
33	chr7:101944430-101944480	NHDF-neo	bronchial:	n/a
34	chr7:101940485-101940535	PANC-1	pancreas:	n/a
35	chr7:101944556-101944606	NT2-D1	testis:	n/a
36	chr7:101943005-101943055	ECC-1	luminal epithelium:	n/a
37	chr7:101931734-101931784	HUVEC	blood vessel:	n/a
38	chr7:101940485-101940535	HL-60	blood:	n/a
39	chr7:101931088-101931138	GM12878	blood:	n/a
40	chr7:101930366-101930416	HCM	heart:	n/a
41	chr7:101943990-101944040	Hepatocyte	liver:	n/a
42	chr7:101940485-101940535	HRE	kidney:	n/a
43	chr7:101936362-101936412	HAEpiC	amniotic membrane:	n/a
44	chr7:101936230-101936280	HUVEC	blood vessel:	n/a
45	chr7:101930855-101930905	ovcar-3	ovarian:	n/a
46	chr7:101943005-101943055	Caco-2	colon:	n/a
47	chr7:101945324-101945374	AG04449	skin:	fetal
48	chr7:101945324-101945374	MCF-7	breast:	n/a
49	chr7:101943788-101943838	H1-hESC	embryonic stem cell:	embryo
50	chr7:101945324-101945374	BE2_C	brain:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:101929055..101931888-chr7:101946195..101949468,3	MCF-7	breast:
2	chr7:101929445..101932504-chr7:101961443..101964470,3	MCF-7	breast:
3	chr7:101933755..101935437-chr7:101946466..101948365,2	K562	blood:
4	chr7:101928479..101930967-chr7:101967385..101968999,2	MCF-7	breast:
5	chr7:101928798..101932445-chr7:101950032..101952249,4	MCF-7	breast:
6	chr7:101937279..101939356-chr7:102035077..102036831,2	MCF-7	breast:
7	chr7:101929484..101930470-chr9:115983303..115983803,2	MCF-7	breast:
8	chr7:101933934..101936298-chr7:101951581..101953703,2	MCF-7	breast:
9	chr7:101922653..101924580-chr7:101925750..101927618,2	K562	blood:
10	chr3:25824746..25825695-chr7:101929432..101929994,2	Hela-S3	cervix:
11	chr7:101930945..101933458-chr7:101949436..101952380,2	K562	blood:
12	chr16:74734498..74735318-chr7:101929629..101930391,2	Hela-S3	cervix:
13	chr2:38977978..38978650-chr7:101929677..101930517,2	Hela-S3	cervix:
14	chr7:101928436..101931532-chr7:101950197..101953124,5	MCF-7	breast:
15	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
16	chr7:101926103..101929302-chr7:102034428..102037305,4	K562	blood:
17	chr7:101928787..101931103-chr7:102068697..102071521,3	MCF-7	breast:
18	chr7:101930001..101933436-chr7:101942768..101945617,4	MCF-7	breast:
19	chr16:19098112..19098661-chr7:101929489..101930436,2	NB4	blood:
20	chr7:101929405..101932228-chr7:102004089..102006204,3	MCF-7	breast:
21	chr7:101916073..101920383-chr7:101924877..101927164,4	K562	blood:
22	chr17:57932275..57935859-chr7:101928693..101931140,3	MCF-7	breast:
23	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
24	chr12:27175042..27175990-chr7:101929910..101930666,2	NB4	blood:
25	chr7:101945377..101948600-chr7:101949101..101952038,3	MCF-7	breast:
26	chr7:101929481..101931029-chr7:101947545..101949971,2	MCF-7	breast:
27	chr7:101929193..101933114-chr7:102002714..102005580,3	K562	blood:
28	chr7:101928798..101932445-chr7:101950032..101952249,4	MCF-7	breast:
29	chr7:101928654..101931146-chr7:101953140..101955498,2	MCF-7	breast:
30	chr5:11784634..11787064-chr7:101928617..101931405,2	MCF-7	breast:
31	chr7:101929055..101931888-chr7:101946195..101949468,3	MCF-7	breast:
32	chr7:101929723..101930292-chr9:115983304..115983823,2	MCF-7	breast:
33	chr7:101923488..101926936-chr7:101927736..101931132,6	K562	blood:
34	chr7:101928489..101931443-chr7:102024106..102026412,2	K562	blood:
35	chr7:101929651..101930349-chr8:142425451..142425971,2	HCT-116	colon:
36	chr7:101912928..101918938-chr7:101926951..101931541,5	K562	blood:
37	chr7:101931480..101934447-chr7:101940162..101942129,3	MCF-7	breast:
38	chr17:56708217..56709743-chr7:101928266..101930039,2	MCF-7	breast:
39	chr7:101937292..101939869-chr7:101943781..101946612,4	MCF-7	breast:
40	chr7:101929851..101931493-chr7:102106221..102107741,2	MCF-7	breast:
41	chr7:101928063..101931419-chr7:102036448..102039604,3	K562	blood:
42	chr7:101933934..101936298-chr7:101951581..101953703,2	MCF-7	breast:
43	chr12:8088376..8089160-chr7:101929466..101930142,2	Hela-S3	cervix:
44	chr2:62932638..62933327-chr7:101929432..101930129,2	Hela-S3	cervix:
45	chr7:101929038..101929614-chr7:102030921..102031723,2	MCF-7	breast:
46	chr7:101928402..101930093-chr7:102073347..102075211,2	K562	blood:
47	chr7:101168305..101170280-chr7:101929643..101931645,2	K562	blood:
48	chr7:101928482..101930196-chr7:102103795..102105466,2	MCF-7	breast:
49	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:
50	chr7:101928285..101931151-chr7:101931936..101935513,3	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4285	chr7:101936379-101936396	MIMAT0016913

No data

Variant related genes	Relation type
SH2B2	TF binding region
MIR4285	TF binding region
SH2B2	CpG island
MIR4285	CpG island
ENSG00000239480	chromatin interactions
ENSG00000160999	chromatin interactions
ENSG00000239486	chromatin interactions
ENSG00000160991	chromatin interactions
ENSG00000168404	chromatin interactions
ENSG00000119321	chromatin interactions
ENSG00000257923	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000160993	chromatin interactions
ENSG00000260430	chromatin interactions
ENSG00000136868	chromatin interactions
ENSG00000059804	chromatin interactions
ENSG00000185129	chromatin interactions
ENSG00000239969	chromatin interactions
ENSG00000161036	chromatin interactions
ENSG00000128563	chromatin interactions
ENSG00000245146	chromatin interactions
ENSG00000152944	chromatin interactions
ENSG00000115504	chromatin interactions
ENSG00000151092	chromatin interactions
ENSG00000264675	chromatin interactions

Extended variants
information (count: 1274 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1274 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113634317	chr7:101926788-101926789	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs188776036	chr7:101926789-101926790	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562099760	chr7:101926816-101926817	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs147926104	chr7:101926817-101926818	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77369840	chr7:101926892-101926893	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs529311625	chr7:101926928-101926929	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs550680757	chr7:101926957-101926958	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192033664	chr7:101926987-101926988	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs533161566	chr7:101927027-101927028	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs532132991	chr7:101927054-101927055	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567198957	chr7:101927064-101927065	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs534109681	chr7:101927089-101927090	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs8950	chr7:101927099-101927100	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1056363	chr7:101927108-101927109	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs141716299	chr7:101927109-101927110	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs182766749	chr7:101927125-101927126	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs75104200	chr7:101927131-101927132	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs541778464	chr7:101927156-101927157	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs1056386	chr7:101927160-101927161	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs9691899	chr7:101927186-101927187	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553763119	chr7:101927223-101927224	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs572341040	chr7:101927230-101927231	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs73187873	chr7:101927248-101927249	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs187844780	chr7:101927281-101927282	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559973537	chr7:101927308-101927309	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs192308318	chr7:101927352-101927353	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs544256449	chr7:101927435-101927436	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs562680552	chr7:101927441-101927442	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs143443941	chr7:101927472-101927473	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs35343415	chr7:101927482-101927483	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs147988000	chr7:101927513-101927514	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs184506655	chr7:101927515-101927516	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs527951254	chr7:101927539-101927540	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs549416705	chr7:101927552-101927553	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs551104828	chr7:101927555-101927556	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567819283	chr7:101927559-101927560	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs569409266	chr7:101927584-101927585	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs803071	chr7:101927603-101927604	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs558457248	chr7:101927633-101927634	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs376023282	chr7:101927637-101927638	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs189130837	chr7:101927653-101927654	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs549171975	chr7:101927655-101927656	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs538243196	chr7:101927656-101927657	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs553696413	chr7:101927712-101927713	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs10249453	chr7:101927718-101927719	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370762899	chr7:101927741-101927742	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs536497976	chr7:101927768-101927769	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs554449767	chr7:101927781-101927782	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs1293841	chr7:101927784-101927785	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs587748473	chr7:101927786-101927787	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1605 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101892800-101928000	Weak transcription	Esophagus	oesophagus
2	chr7:101892800-101928400	Weak transcription	Right Ventricle	heart
3	chr7:101897600-101928000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:101898000-101928200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:101904600-101928200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:101908000-101929200	Weak transcription	Gastric	stomach
7	chr7:101910200-101928400	Weak transcription	Liver	Liver
8	chr7:101915800-101928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:101915800-101929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:101917400-101929400	Weak transcription	HMEC	breast
11	chr7:101917600-101928000	Weak transcription	Colonic Mucosa	Colon
12	chr7:101918800-101929000	Weak transcription	Stomach Mucosa	stomach
13	chr7:101919000-101928200	Weak transcription	Lung	lung
14	chr7:101923000-101927400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:101923000-101928000	Weak transcription	Fetal Lung	lung
16	chr7:101923200-101927000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:101923200-101927000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:101923200-101927000	Weak transcription	Thymus	Thymus
19	chr7:101923200-101927200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:101923200-101927200	Weak transcription	HSMM	muscle
21	chr7:101923200-101927400	Strong transcription	Fetal Intestine Small	intestine
22	chr7:101923200-101927600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:101923200-101927800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:101923200-101927800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:101923200-101927800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:101923200-101927800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:101923200-101928000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:101923200-101928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:101923200-101928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:101923200-101928000	Weak transcription	Adipose Nuclei	Adipose
31	chr7:101923200-101928000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:101923200-101928000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:101923200-101928400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:101923200-101928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:101923200-101928400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:101923200-101928400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:101923200-101928400	Weak transcription	Fetal Intestine Large	intestine
38	chr7:101923200-101929200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:101923200-101929200	Weak transcription	A549	lung
40	chr7:101923200-101929400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:101923400-101927000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:101923400-101927000	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:101923400-101927800	Weak transcription	Placenta	Placenta
44	chr7:101923400-101927800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:101923400-101927800	Weak transcription	Spleen	Spleen
46	chr7:101923400-101928200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:101923400-101928200	Weak transcription	Fetal Brain Male	brain
48	chr7:101923400-101928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:101923400-101928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:101923400-101928400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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