Variant report

Variant	rs2276006
Chromosome Location	chr22:22113887-22113888
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:21978078..21980405-chr22:22112761..22114851,2	K562	blood:
2	chr22:22113720..22119182-chr22:22217815..22224852,8	K562	blood:
3	chr22:22113640..22116338-chr22:22219617..22223063,5	K562	blood:
4	chr22:22112086..22114615-chr22:22292655..22295451,3	K562	blood:
5	chr22:22112784..22115685-chr22:22327730..22329805,2	K562	blood:
6	chr22:22112619..22115133-chr22:22299104..22302068,3	K562	blood:
7	chr22:22113276..22115731-chr22:22119440..22121595,2	MCF-7	breast:

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

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11089745	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11703350	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11703624	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11704433	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704597	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12172215	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12172286	0.82[EUR][1000 genomes]
rs12172360	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13054366	1.00[CEU][hapmap]
rs13058633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13515	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17820162	0.80[AMR][1000 genomes]
rs2040167	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2040168	1.00[AFR][1000 genomes]
rs2070507	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[TSI][hapmap]
rs2073415	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2083564	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[TSI][hapmap]
rs2266968	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2276005	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283795	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs2298434	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3827303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4820146	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4821263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4821336	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4821367	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4821369	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4821371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4821401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5749769	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs5749779	1.00[ASW][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749792	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749939	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749984	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5754916	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5754927	0.93[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5754932	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5754944	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5754947	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5754958	0.88[ASN][1000 genomes]
rs5754968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5755008	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5755040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5755074	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5755745	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs5755978	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap]
rs5755996	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs5756076	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[TSI][hapmap]
rs61757967	1.00[AFR][1000 genomes]
rs71314794	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9607209	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9607210	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9607274	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9607286	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9607385	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs9610174	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9610181	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9610199	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9610219	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9610228	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9610355	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9610574	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
18	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic 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 target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22090800-22115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:22091000-22116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:22092800-22115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr22:22098400-22117400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:22103000-22115400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:22105800-22118000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr22:22109200-22115200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:22109400-22125800	Weak transcription	Small Intestine	intestine
9	chr22:22109800-22114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:22109800-22115000	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:22109800-22115400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:22109800-22115600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:22109800-22117000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:22110000-22117200	Weak transcription	Psoas Muscle	Psoas
15	chr22:22110200-22122600	Weak transcription	Fetal Brain Male	brain
16	chr22:22110400-22114200	Strong transcription	Right Ventricle	heart
17	chr22:22110400-22117400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:22110400-22123600	Strong transcription	Primary B cells from cord blood	blood
19	chr22:22110600-22126000	Weak transcription	Stomach Mucosa	stomach
20	chr22:22110600-22128400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
22	chr22:22110800-22114200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:22110800-22115000	Weak transcription	HepG2	liver
24	chr22:22110800-22115000	Weak transcription	NHDF-Ad	bronchial
25	chr22:22110800-22115400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr22:22110800-22116000	Weak transcription	NHEK	skin
27	chr22:22110800-22117000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr22:22110800-22119400	Weak transcription	Hela-S3	cervix
29	chr22:22110800-22120800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:22110800-22121800	Strong transcription	Thymus	Thymus
31	chr22:22110800-22126600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr22:22111000-22116800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:22111000-22118000	Strong transcription	Fetal Thymus	thymus
34	chr22:22111000-22118200	Strong transcription	Primary T cells from cord blood	blood
35	chr22:22111000-22121000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr22:22111000-22127000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr22:22111000-22128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:22111000-22128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:22111200-22114000	Strong transcription	Esophagus	oesophagus
40	chr22:22111200-22114200	Strong transcription	NHLF	lung
41	chr22:22111200-22114600	Strong transcription	Fetal Intestine Small	intestine
42	chr22:22111200-22114600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr22:22111200-22115200	Enhancers	Fetal Lung	lung
44	chr22:22111200-22117600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr22:22111200-22117800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:22111200-22129200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:22111400-22114200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:22111400-22126400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr22:22111400-22126800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr22:22111400-22128600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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