Variant report

Variant	rs2266968
Chromosome Location	chr22:22173358-22173359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22172293..22175284-chr22:22294561..22296538,2	K562	blood:
2	chr22:22151929..22155942-chr22:22170786..22174182,4	K562	blood:

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11089745	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11703249	1.00[CEU][hapmap]
rs11703350	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11703624	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11703767	0.87[AMR][1000 genomes]
rs11704265	0.81[AMR][1000 genomes]
rs11704433	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11704597	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12172215	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12172360	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13054366	1.00[CEU][hapmap]
rs13058633	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13515	1.00[JPT][hapmap]
rs2040167	1.00[AFR][1000 genomes]
rs2040168	1.00[AFR][1000 genomes]
rs2070507	1.00[CEU][hapmap]
rs2073415	1.00[CEU][hapmap]
rs2083564	1.00[CEU][hapmap]
rs2266974	1.00[CEU][hapmap]
rs2276005	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2276006	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2283795	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2283796	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2298434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3827303	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4821263	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4821336	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4821367	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4821369	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4821371	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4821401	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5749769	1.00[AFR][1000 genomes]
rs5749779	1.00[AFR][1000 genomes]
rs5749792	1.00[AFR][1000 genomes]
rs5749811	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs5749939	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5749984	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5750275	1.00[CEU][hapmap]
rs5750301	1.00[CEU][hapmap]
rs5754916	1.00[AFR][1000 genomes]
rs5754932	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs5754947	1.00[CEU][hapmap]
rs5754968	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs5754970	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs5755008	1.00[AFR][1000 genomes]
rs5755040	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs5755074	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs5755579	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5755745	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5755875	0.87[AMR][1000 genomes]
rs5755884	0.87[AMR][1000 genomes]
rs5755978	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs5755996	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs5756076	1.00[CEU][hapmap]
rs5756253	1.00[CEU][hapmap]
rs5756326	1.00[CEU][hapmap]
rs61757967	1.00[AFR][1000 genomes]
rs71314794	1.00[AFR][1000 genomes]
rs9607209	1.00[AFR][1000 genomes]
rs9607210	1.00[AFR][1000 genomes]
rs9607274	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9607286	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9607348	0.87[AMR][1000 genomes]
rs9607363	0.81[AMR][1000 genomes]
rs9607385	1.00[CEU][hapmap]
rs9610174	1.00[AFR][1000 genomes]
rs9610181	1.00[AFR][1000 genomes]
rs9610199	1.00[AFR][1000 genomes]
rs9610219	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs9610228	1.00[AFR][1000 genomes]
rs9610355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9610518	0.85[AMR][1000 genomes]
rs9610536	0.87[AMR][1000 genomes]
rs9610574	1.00[CEU][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
20	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
21	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
22	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
23	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	145 gene(s)	inside rSNPs	diseases
24	nsv914471	chr22:22165557-22272737	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22161600-22182000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:22162200-22178600	Weak transcription	HepG2	liver
3	chr22:22162400-22177800	Weak transcription	Aorta	Aorta
4	chr22:22166600-22173400	Weak transcription	Fetal Brain Female	brain
5	chr22:22169800-22175000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr22:22170000-22174800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr22:22170000-22175200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:22170400-22173400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:22170400-22173800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:22170400-22174000	Enhancers	Brain Cingulate Gyrus	brain
11	chr22:22170400-22174600	Enhancers	Brain Anterior Caudate	brain
12	chr22:22170400-22174600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:22170600-22173400	Enhancers	Brain Angular Gyrus	brain
14	chr22:22170600-22174000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr22:22170600-22174600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr22:22170600-22174600	Enhancers	Brain Hippocampus Middle	brain
17	chr22:22170600-22174600	Enhancers	Small Intestine	intestine
18	chr22:22171000-22173800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:22171200-22174000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr22:22171200-22174800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:22171400-22173400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:22171400-22173600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:22171400-22174400	Weak transcription	Fetal Intestine Large	intestine
24	chr22:22171400-22186800	Weak transcription	A549	lung
25	chr22:22171600-22174000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr22:22171600-22174600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:22171600-22174800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr22:22171600-22174800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr22:22171600-22174800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr22:22171600-22175000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr22:22171600-22175000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr22:22171600-22175000	Enhancers	HUVEC	blood vessel
33	chr22:22171600-22175400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr22:22171600-22183600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:22171800-22173400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr22:22171800-22174000	Enhancers	Adipose Nuclei	Adipose
37	chr22:22171800-22174200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:22171800-22174600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr22:22171800-22174800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:22171800-22175000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr22:22171800-22175000	Genic enhancers	K562	blood
42	chr22:22171800-22175400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:22171800-22175600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr22:22171800-22175800	Weak transcription	Gastric	stomach
45	chr22:22171800-22175800	Weak transcription	Pancreas	Pancrea
46	chr22:22171800-22176400	Weak transcription	Ovary	ovary
47	chr22:22171800-22178400	Weak transcription	Stomach Mucosa	stomach
48	chr22:22171800-22181200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr22:22171800-22181600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr22:22172000-22173400	Weak transcription	Colon Smooth Muscle	Colon

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