Variant report

Variant	rs4821168
Chromosome Location	chr22:22035187-22035188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:22035052-22038610	K562	blood:	n/a	n/a
2	POLR2A	chr22:22035074-22038201	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22026552..22029197-chr22:22033655..22036468,4	MCF-7	breast:
2	chr22:22035151..22037450-chr22:22190171..22191825,2	K562	blood:
3	chr22:22033816..22035772-chr22:22221671..22223696,2	K562	blood:

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000100030	Chromatin interaction
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	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1045681	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs108816	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089651	0.85[EUR][1000 genomes]
rs11089685	0.86[AMR][1000 genomes]
rs11703445	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705326	0.84[EUR][1000 genomes]
rs11705530	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912412	1.00[ASN][1000 genomes]
rs12170039	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811070	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860	0.81[EUR][1000 genomes]
rs2034570	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034572	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070504	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278118	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840341	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3209602	1.00[ASN][1000 genomes]
rs3747095	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788329	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45502092	0.87[EUR][1000 genomes]
rs56108061	0.83[AMR][1000 genomes]
rs56387230	0.98[ASN][1000 genomes]
rs5998956	0.88[EUR][1000 genomes]
rs62235078	0.82[EUR][1000 genomes]
rs62235097	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235098	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235099	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235101	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710172	0.81[EUR][1000 genomes]
rs7285388	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286619	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291614	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149915	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs741617	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142802	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861812	0.98[ASN][1000 genomes]
rs861813	0.98[ASN][1000 genomes]
rs861816	0.80[AFR][1000 genomes]
rs861836	0.85[EUR][1000 genomes]
rs915724	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9941935	0.87[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	chr22:22024400-22053200	Strong transcription	Placenta	Placenta
6	chr22:22024800-22052200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:22026000-22040800	Weak transcription	Hela-S3	cervix
8	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr22:22026800-22040800	Weak transcription	NHDF-Ad	bronchial
10	chr22:22027000-22049200	Weak transcription	Fetal Heart	heart
11	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
12	chr22:22027200-22039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:22027200-22045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:22027600-22051000	Weak transcription	Psoas Muscle	Psoas
15	chr22:22029400-22036000	Weak transcription	HMEC	breast
16	chr22:22029600-22036400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:22030200-22035200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr22:22030200-22036800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:22030400-22035200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:22030400-22035200	Weak transcription	Osteobl	bone
21	chr22:22030400-22035400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:22030400-22035400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:22030400-22035400	Weak transcription	Brain Anterior Caudate	brain
24	chr22:22030400-22035400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr22:22030400-22035400	Weak transcription	Left Ventricle	heart
26	chr22:22030400-22035400	Weak transcription	GM12878-XiMat	blood
27	chr22:22030400-22035600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:22030400-22035800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:22030400-22036600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:22030400-22037000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr22:22030400-22040800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr22:22030400-22040800	Weak transcription	Fetal Lung	lung
33	chr22:22030400-22046200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr22:22030400-22051600	Weak transcription	NH-A	brain
35	chr22:22030600-22035200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:22030600-22035200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:22030600-22035200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:22030600-22035200	Weak transcription	Brain Substantia Nigra	brain
39	chr22:22030600-22035200	Weak transcription	Colonic Mucosa	Colon
40	chr22:22030600-22035200	Weak transcription	Fetal Brain Female	brain
41	chr22:22030600-22035200	Weak transcription	Pancreas	Pancrea
42	chr22:22030600-22035200	Weak transcription	HSMMtube	muscle
43	chr22:22030600-22035400	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:22030600-22035400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr22:22030600-22035400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr22:22030600-22035400	Weak transcription	NHEK	skin
47	chr22:22030600-22035600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr22:22030600-22035600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:22030600-22036000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr22:22030600-22036200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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