Variant report

Variant	rs12172286
Chromosome Location	chr22:22079226-22079227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22078839..22080423-chr22:22293104..22295594,2	K562	blood:
2	chr22:21995484..21997437-chr22:22079170..22081079,2	MCF-7	breast:
3	chr22:22078529..22081108-chr22:22293630..22295238,2	K562	blood:

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction
ENSG00000128228	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11089745	0.82[EUR][1000 genomes]
rs11704433	0.82[EUR][1000 genomes]
rs13058633	0.82[EUR][1000 genomes]
rs16984988	1.00[CEU][hapmap]
rs2040167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2040168	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2276005	0.82[EUR][1000 genomes]
rs2276006	0.82[EUR][1000 genomes]
rs4820146	0.82[EUR][1000 genomes]
rs4821263	0.82[EUR][1000 genomes]
rs5749769	0.85[EUR][1000 genomes]
rs5749779	0.82[EUR][1000 genomes]
rs5749792	0.82[EUR][1000 genomes]
rs5749811	0.82[EUR][1000 genomes]
rs5754916	0.82[EUR][1000 genomes]
rs5754944	0.82[EUR][1000 genomes]
rs5754947	0.82[EUR][1000 genomes]
rs5754968	0.82[EUR][1000 genomes]
rs5754970	0.82[EUR][1000 genomes]
rs5755008	0.82[EUR][1000 genomes]
rs5755040	0.82[EUR][1000 genomes]
rs5755074	0.82[EUR][1000 genomes]
rs71314794	0.85[EUR][1000 genomes]
rs9607207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9607209	0.83[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9607210	0.83[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9610168	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9610174	0.84[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9610181	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9610199	0.85[EUR][1000 genomes]
rs9610219	0.82[EUR][1000 genomes]
rs9610228	0.82[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	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
2	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:22065000-22080200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
8	chr22:22065600-22080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:22065600-22080800	Weak transcription	Primary T cells from cord blood	blood
10	chr22:22067800-22088400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr22:22068000-22080000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr22:22068000-22081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:22068000-22081000	Weak transcription	Brain Anterior Caudate	brain
14	chr22:22068000-22088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:22068000-22088800	Weak transcription	Fetal Lung	lung
16	chr22:22068600-22082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr22:22068800-22082000	Weak transcription	Fetal Brain Female	brain
18	chr22:22068800-22082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:22069000-22088400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:22069200-22080400	Weak transcription	Thymus	Thymus
21	chr22:22069200-22080800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:22069200-22088800	Weak transcription	HSMMtube	muscle
23	chr22:22069400-22080800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:22069400-22080800	Weak transcription	Dnd41	blood
25	chr22:22069400-22081000	Weak transcription	Brain Germinal Matrix	brain
26	chr22:22071000-22080800	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:22073600-22082200	Weak transcription	Lung	lung
28	chr22:22073600-22088800	Weak transcription	Gastric	stomach
29	chr22:22073800-22080200	Weak transcription	Fetal Heart	heart
30	chr22:22074000-22080000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr22:22074000-22081000	Weak transcription	Brain Hippocampus Middle	brain
32	chr22:22074000-22085800	Weak transcription	Primary B cells from cord blood	blood
33	chr22:22076400-22080400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:22076400-22088800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr22:22077000-22081400	Strong transcription	Right Atrium	heart
36	chr22:22077200-22085000	Weak transcription	Ovary	ovary
37	chr22:22077200-22088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:22077400-22080600	Weak transcription	Fetal Thymus	thymus
39	chr22:22078600-22080600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:22078600-22080800	Weak transcription	Fetal Stomach	stomach
41	chr22:22078800-22080600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:22078800-22080600	Weak transcription	GM12878-XiMat	blood
43	chr22:22078800-22080800	Weak transcription	Fetal Muscle Trunk	muscle

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