Variant report

Variant	rs2081431
Chromosome Location	chr22:22004334-22004335
allele	G/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	chr22:22003897-22004404	HepG2	liver:	n/a	n/a
2	JUN	chr22:22004275-22009366	K562	blood:	n/a	chr22:22006333-22006342 chr22:22006418-22006427 chr22:22006621-22006629
3	POLR2A	chr22:22002106-22008893	K562	blood:	n/a	n/a
4	POLR2A	chr22:22003204-22006975	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21997414..21999019-chr22:22004006..22006421,2	MCF-7	breast:
2	chr22:22003932..22007330-chr22:22018565..22021264,4	MCF-7	breast:
3	chr22:22004165..22007450-chr22:22088545..22091929,3	K562	blood:

Variant related genes	Relation type
MIR130B	TF binding region
PPIL2	TF binding region
MIR301B	TF binding region
ENSG00000100023	Chromatin interaction
ENSG00000100027	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs108816	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11089647	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11089651	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3788329	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3804071	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45502092	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998956	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62235077	0.95[EUR][1000 genomes]
rs62235078	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs861836	0.81[EUR][1000 genomes]
rs9941935	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers 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	374 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 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	chr22:21997200-22005600	Weak transcription	Small Intestine	intestine
2	chr22:21997400-22005000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:21997400-22005200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:21997600-22005400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:21997600-22005600	Weak transcription	Aorta	Aorta
6	chr22:21997800-22004800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:21997800-22005200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:21997800-22005200	Weak transcription	Fetal Lung	lung
9	chr22:21997800-22005200	Weak transcription	Psoas Muscle	Psoas
10	chr22:21998000-22004800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:21998000-22005000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:21998000-22005000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:21998000-22005000	Weak transcription	Fetal Heart	heart
14	chr22:21998000-22005000	Strong transcription	Fetal Intestine Small	intestine
15	chr22:21998000-22005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:21998000-22005200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:21998000-22005200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:21998000-22005200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:21998000-22005200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:21998000-22005200	Weak transcription	Fetal Brain Male	brain
21	chr22:21998000-22005200	Weak transcription	Fetal Brain Female	brain
22	chr22:21998000-22005200	Weak transcription	Fetal Kidney	kidney
23	chr22:21998000-22005200	Weak transcription	HSMMtube	muscle
24	chr22:21998000-22005400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:21998000-22005400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:21998000-22005400	Weak transcription	A549	lung
27	chr22:21998000-22005600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:21998000-22005600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr22:21998200-22004400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:21998200-22004600	Strong transcription	Fetal Stomach	stomach
31	chr22:21998200-22004800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:21998200-22005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr22:21998200-22006000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:21998400-22005000	Weak transcription	HSMM	muscle
35	chr22:21998400-22005200	Weak transcription	NH-A	brain
36	chr22:21998400-22005200	Weak transcription	NHDF-Ad	bronchial
37	chr22:21998400-22005400	Weak transcription	Colonic Mucosa	Colon
38	chr22:21998400-22005600	Weak transcription	Hela-S3	cervix
39	chr22:21998600-22005200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:21998600-22005200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr22:21998600-22005200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:21998600-22005400	Weak transcription	Ovary	ovary
43	chr22:21998800-22004600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:21999000-22005400	Weak transcription	Adipose Nuclei	Adipose
45	chr22:22001000-22004600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:22001200-22004800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:22001200-22005200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr22:22001200-22005200	Weak transcription	Liver	Liver
49	chr22:22001200-22005200	Weak transcription	Spleen	Spleen
50	chr22:22001400-22004800	Weak transcription	Primary B cells from cord blood	blood

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