Variant report

Variant	rs861816
Chromosome Location	chr22:22055581-22055582
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:22055546..22056188-chr22:22292673..22293505,2	K562	blood:
2	chr22:22053644..22055613-chr22:22055957..22058510,3	MCF-7	breast:
3	chr22:22050871..22057964-chr22:22289460..22296191,13	K562	blood:
4	chr22:22053860..22056327-chr22:22270499..22272537,2	K562	blood:
5	chr22:22053845..22056535-chr22:22060286..22062132,2	MCF-7	breast:
6	chr22:22026398..22029165-chr22:22052944..22055658,3	MCF-7	breast:
7	chr22:22054126..22055638-chr22:22220906..22222489,2	K562	blood:
8	chr22:22040941..22043487-chr22:22055352..22056893,2	MCF-7	breast:
9	chr22:22051539..22057555-chr22:22289579..22294556,10	K562	blood:
10	chr22:22054580..22057543-chr22:22499227..22501364,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1045681	0.80[AFR][1000 genomes]
rs108816	0.85[AFR][1000 genomes]
rs11703445	0.88[AFR][1000 genomes]
rs11705530	0.90[AFR][1000 genomes]
rs11912412	0.85[AFR][1000 genomes]
rs1811070	0.90[AFR][1000 genomes]
rs1860	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2034570	0.89[AFR][1000 genomes]
rs2034572	0.88[AFR][1000 genomes]
rs2070504	0.80[AFR][1000 genomes]
rs2278118	0.94[AFR][1000 genomes]
rs2840341	0.89[AFR][1000 genomes]
rs3209602	0.87[AFR][1000 genomes]
rs3788329	0.85[AFR][1000 genomes]
rs4821168	0.80[AFR][1000 genomes]
rs56108061	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5749696	0.86[ASN][1000 genomes]
rs5754727	0.97[ASN][1000 genomes]
rs5754754	0.96[ASN][1000 genomes]
rs62235097	0.90[AFR][1000 genomes]
rs62235098	0.90[AFR][1000 genomes]
rs62235099	0.94[AFR][1000 genomes]
rs62235101	0.88[AFR][1000 genomes]
rs710172	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286619	0.89[AFR][1000 genomes]
rs7291614	0.94[AFR][1000 genomes]
rs73149915	0.85[AFR][1000 genomes]
rs7349039	0.84[ASN][1000 genomes]
rs741617	0.94[AFR][1000 genomes]
rs8142802	0.94[AFR][1000 genomes]
rs915724	0.87[AFR][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	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
9	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
10	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
11	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
12	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
13	nsv191511	chr22:22052566-22058785	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 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	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
3	chr22:22031400-22058400	Strong transcription	Fetal Intestine Small	intestine
4	chr22:22031600-22058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:22032200-22056600	Strong transcription	Primary T cells from cord blood	blood
6	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
7	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
8	chr22:22034400-22055800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr22:22034600-22058600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr22:22034600-22059800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:22035200-22057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:22035200-22060000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:22039400-22056600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:22044400-22067400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr22:22045800-22060000	Strong transcription	Fetal Brain Female	brain
17	chr22:22045800-22066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:22047200-22057600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:22047400-22057800	Strong transcription	Brain Cingulate Gyrus	brain
20	chr22:22047400-22060000	Strong transcription	Dnd41	blood
21	chr22:22047400-22060400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr22:22047600-22056600	Strong transcription	Brain Substantia Nigra	brain
23	chr22:22047600-22058200	Strong transcription	Brain Hippocampus Middle	brain
24	chr22:22047600-22059000	Strong transcription	Brain Anterior Caudate	brain
25	chr22:22047600-22059200	Strong transcription	Brain Germinal Matrix	brain
26	chr22:22047800-22058200	Strong transcription	Ovary	ovary
27	chr22:22048800-22056200	Weak transcription	HMEC	breast
28	chr22:22049800-22056800	Strong transcription	Primary B cells from cord blood	blood
29	chr22:22050200-22056200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:22050800-22064000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:22051400-22056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:22051400-22067400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr22:22051800-22056000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr22:22051800-22064000	Weak transcription	NHEK	skin
35	chr22:22052000-22057400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:22052200-22058400	Weak transcription	Colonic Mucosa	Colon
38	chr22:22052200-22063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:22052200-22067600	Weak transcription	GM12878-XiMat	blood
40	chr22:22052400-22067400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr22:22052400-22067400	Weak transcription	Fetal Intestine Large	intestine
42	chr22:22053000-22055800	Weak transcription	Fetal Lung	lung
43	chr22:22053200-22067400	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:22053400-22055600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:22053400-22055800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr22:22053400-22057000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:22053400-22057600	Strong transcription	Brain Angular Gyrus	brain
48	chr22:22053400-22058600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:22053400-22059200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr22:22053400-22066000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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