Variant report

Variant	rs7286619
Chromosome Location	chr22:22032207-22032208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22030525..22032329-chr22:22096082..22098311,2	K562	blood:
2	chr22:22020123..22021841-chr22:22030160..22032394,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10009	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1045681	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs108816	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089651	0.86[EUR][1000 genomes]
rs11089685	0.87[AMR][1000 genomes]
rs11703445	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705326	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11705530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912412	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12170039	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811070	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860	0.80[EUR][1000 genomes]
rs2034570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034572	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070504	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3209602	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3747095	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788329	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45502092	0.86[EUR][1000 genomes]
rs4821168	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56108061	0.84[AMR][1000 genomes]
rs56387230	0.98[ASN][1000 genomes]
rs5998956	0.89[EUR][1000 genomes]
rs62235078	0.82[EUR][1000 genomes]
rs62235097	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235098	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235099	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235101	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710172	0.80[EUR][1000 genomes]
rs7285388	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149915	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs741617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142802	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861812	0.98[ASN][1000 genomes]
rs861813	0.98[ASN][1000 genomes]
rs861816	0.89[AFR][1000 genomes]
rs861836	0.85[EUR][1000 genomes]
rs915724	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9941935	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
9	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
12	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
13	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
14	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22021400-22035200	Weak transcription	Stomach Mucosa	stomach
2	chr22:22021400-22036600	Weak transcription	A549	lung
3	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
4	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:22023400-22032400	Strong transcription	Lung	lung
6	chr22:22023400-22034000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:22023600-22032600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr22:22023600-22032600	Strong transcription	Thymus	Thymus
9	chr22:22023600-22032800	Strong transcription	Spleen	Spleen
10	chr22:22024000-22033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:22024000-22033400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:22024400-22053200	Strong transcription	Placenta	Placenta
13	chr22:22024800-22052200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:22026000-22040800	Weak transcription	Hela-S3	cervix
15	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr22:22026800-22040800	Weak transcription	NHDF-Ad	bronchial
17	chr22:22027000-22049200	Weak transcription	Fetal Heart	heart
18	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
19	chr22:22027200-22039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:22027200-22045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:22027600-22051000	Weak transcription	Psoas Muscle	Psoas
22	chr22:22028400-22032600	Strong transcription	Esophagus	oesophagus
23	chr22:22029400-22036000	Weak transcription	HMEC	breast
24	chr22:22029600-22036400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr22:22030200-22035200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr22:22030200-22036800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:22030400-22032800	Weak transcription	Primary B cells from cord blood	blood
28	chr22:22030400-22034400	Weak transcription	HSMM	muscle
29	chr22:22030400-22035200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:22030400-22035200	Weak transcription	Osteobl	bone
31	chr22:22030400-22035400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:22030400-22035400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:22030400-22035400	Weak transcription	Brain Anterior Caudate	brain
34	chr22:22030400-22035400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:22030400-22035400	Weak transcription	Left Ventricle	heart
36	chr22:22030400-22035400	Weak transcription	GM12878-XiMat	blood
37	chr22:22030400-22035600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:22030400-22035800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr22:22030400-22036600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:22030400-22037000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr22:22030400-22040800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr22:22030400-22040800	Weak transcription	Fetal Lung	lung
43	chr22:22030400-22046200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr22:22030400-22051600	Weak transcription	NH-A	brain
45	chr22:22030600-22034200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr22:22030600-22034400	Weak transcription	Fetal Muscle Leg	muscle
47	chr22:22030600-22034400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr22:22030600-22034400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr22:22030600-22034600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:22030600-22034600	Weak transcription	Primary T cells fromperipheralblood	blood

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