Variant report

Variant	rs7291614
Chromosome Location	chr22:22040295-22040296
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	chr22:22038236..22040756-chr22:22220216..22222541,2	K562	blood:
2	chr22:22037368..22040740-chr22:22291546..22294238,3	K562	blood:

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10009	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1045681	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs108816	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089647	0.81[CEU][hapmap]
rs11089651	0.85[EUR][1000 genomes]
rs11089685	0.87[AMR][1000 genomes]
rs11703445	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705326	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11705530	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912412	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11914240	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12170039	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16997333	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1811070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2034570	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034572	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070504	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3209602	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3747094	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3747095	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788329	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3804071	0.81[CEU][hapmap];0.89[CHB][hapmap]
rs45502092	0.86[EUR][1000 genomes]
rs4821168	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56108061	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56387230	0.98[ASN][1000 genomes]
rs5998956	0.87[EUR][1000 genomes]
rs62235078	0.82[EUR][1000 genomes]
rs62235097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235098	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235101	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710172	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7285365	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7285388	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286619	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286932	0.80[AFR][1000 genomes]
rs73149915	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs741617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139619	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8142802	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861812	0.98[ASN][1000 genomes]
rs861813	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs861816	0.94[AFR][1000 genomes]
rs861836	0.85[EUR][1000 genomes]
rs915724	0.93[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9941935	0.87[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
2	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:22024400-22053200	Strong transcription	Placenta	Placenta
4	chr22:22024800-22052200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:22026000-22040800	Weak transcription	Hela-S3	cervix
6	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr22:22026800-22040800	Weak transcription	NHDF-Ad	bronchial
8	chr22:22027000-22049200	Weak transcription	Fetal Heart	heart
9	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
10	chr22:22027200-22045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:22027600-22051000	Weak transcription	Psoas Muscle	Psoas
12	chr22:22030400-22040800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:22030400-22040800	Weak transcription	Fetal Lung	lung
14	chr22:22030400-22046200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:22030400-22051600	Weak transcription	NH-A	brain
16	chr22:22030600-22047800	Weak transcription	HUVEC	blood vessel
17	chr22:22031400-22058400	Strong transcription	Fetal Intestine Small	intestine
18	chr22:22031600-22058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:22032000-22052800	Strong transcription	Fetal Stomach	stomach
20	chr22:22032200-22048000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:22032200-22049400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr22:22032200-22056600	Strong transcription	Primary T cells from cord blood	blood
23	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
24	chr22:22032400-22052400	Strong transcription	Fetal Intestine Large	intestine
25	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
26	chr22:22033800-22052800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr22:22034200-22042400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:22034200-22043200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:22034200-22044400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:22034200-22053000	Strong transcription	Lung	lung
31	chr22:22034400-22041000	Strong transcription	Gastric	stomach
32	chr22:22034400-22044400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr22:22034400-22044600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:22034400-22046400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:22034400-22053600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr22:22034400-22054600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr22:22034400-22055800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr22:22034600-22043600	Strong transcription	Brain Hippocampus Middle	brain
39	chr22:22034600-22044800	Strong transcription	Esophagus	oesophagus
40	chr22:22034600-22046600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr22:22034600-22052200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr22:22034600-22053000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:22034600-22058600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr22:22034600-22059800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:22035000-22042200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr22:22035000-22043200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr22:22035000-22043600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:22035000-22044200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:22035000-22045200	Strong transcription	Brain Germinal Matrix	brain

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