Variant report

Variant	rs6962370
Chromosome Location	chr7:50454736-50454737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50454599..50457832-chr7:50460063..50462118,3	K562	blood:
2	chr7:50454599..50456922-chr7:50460063..50461739,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1037350	0.82[ASN][1000 genomes]
rs10499691	0.82[ASN][1000 genomes]
rs11575548	0.84[ASN][1000 genomes]
rs11575553	0.82[ASN][1000 genomes]
rs11575562	0.82[ASN][1000 genomes]
rs11976368	0.82[ASN][1000 genomes]
rs11978591	0.82[ASN][1000 genomes]
rs17133817	0.82[ASN][1000 genomes]
rs17133826	0.82[ASN][1000 genomes]
rs17553036	0.82[ASN][1000 genomes]
rs17634476	0.82[ASN][1000 genomes]
rs17634717	0.84[ASN][1000 genomes]
rs2242041	0.82[ASN][1000 genomes]
rs34672220	0.95[ASN][1000 genomes]
rs35399233	0.95[ASN][1000 genomes]
rs56056130	0.82[ASN][1000 genomes]
rs61016409	0.95[ASN][1000 genomes]
rs6944090	1.00[JPT][hapmap]
rs6959427	0.86[ASN][1000 genomes]
rs73695642	0.82[ASN][1000 genomes]
rs73695660	0.82[ASN][1000 genomes]
rs73695663	0.82[ASN][1000 genomes]
rs7455944	0.95[ASN][1000 genomes]
rs7777600	1.00[JPT][hapmap]
rs7797772	0.95[ASN][1000 genomes]
rs7809234	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522250	chr7:50442726-50454736	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr7:50430600-50459800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr7:50431200-50460600	Strong transcription	Dnd41	blood
4	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:50437200-50460200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:50439400-50460600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr7:50440800-50461400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50441200-50459800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:50441200-50460200	Strong transcription	Thymus	Thymus
10	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells	blood
11	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:50441800-50459200	Strong transcription	Fetal Thymus	thymus
13	chr7:50442200-50460200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:50445400-50461400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:50446600-50461400	Weak transcription	Colonic Mucosa	Colon
16	chr7:50447200-50467400	Weak transcription	Esophagus	oesophagus
17	chr7:50447200-50467400	Weak transcription	Gastric	stomach
18	chr7:50448200-50455000	Weak transcription	Lung	lung
19	chr7:50449200-50467400	Weak transcription	Liver	Liver
20	chr7:50449800-50459200	Strong transcription	Primary B cells from cord blood	blood
21	chr7:50450400-50460000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:50450600-50455000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:50450600-50455000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:50450800-50455200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:50451000-50455000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:50451400-50455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:50451400-50462600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:50452600-50458400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:50452800-50455600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:50453200-50456000	Weak transcription	Spleen	Spleen
31	chr7:50453200-50459000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:50453200-50467800	Weak transcription	Pancreas	Pancrea
33	chr7:50453600-50454800	Strong transcription	Primary T cells from cord blood	blood
34	chr7:50453600-50456200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:50453600-50460000	Weak transcription	GM12878-XiMat	blood
36	chr7:50453800-50455000	Weak transcription	K562	blood
37	chr7:50453800-50455600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:50454200-50454800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:50454400-50456800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:50454400-50461000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:50454600-50454800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:50454600-50454800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:50454600-50455400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:50454600-50457400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr7:50454600-50460000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:50454600-50460800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:50454600-50461000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:50454600-50462400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood

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