Variant report

Variant	rs12167792
Chromosome Location	chr22:23569469-23569470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23561624..23565353-chr22:23567235..23570222,4	MCF-7	breast:
2	chr22:23521791..23524504-chr22:23566420..23569877,3	MCF-7	breast:
3	chr22:23568645..23571293-chr22:23572654..23574460,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10470285	1.00[AMR][1000 genomes]
rs11090223	1.00[AMR][1000 genomes]
rs12167285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12167689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12168185	1.00[AMR][1000 genomes]
rs12169624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12171184	1.00[AMR][1000 genomes]
rs13433579	1.00[AMR][1000 genomes]
rs34509203	1.00[AMR][1000 genomes]
rs9620217	1.00[AMR][1000 genomes]
rs9620224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9624016	1.00[AMR][1000 genomes]
rs9624018	1.00[AMR][1000 genomes]
rs9624032	1.00[AMR][1000 genomes]
rs9624035	1.00[AMR][1000 genomes]
rs9624036	1.00[AMR][1000 genomes]
rs9624038	1.00[AMR][1000 genomes]
rs9624045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9624055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9624061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9624065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS 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	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23554000-23570200	Enhancers	Placenta	Placenta
2	chr22:23554000-23570200	Enhancers	Left Ventricle	heart
3	chr22:23557600-23570200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:23561600-23570200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr22:23562000-23570200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr22:23562400-23570200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr22:23562400-23570200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:23562600-23570000	Enhancers	Brain Anterior Caudate	brain
9	chr22:23562600-23573000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:23562800-23570200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:23562800-23570400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr22:23563000-23570200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr22:23563200-23570200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr22:23563800-23570400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:23564400-23570200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:23564400-23570200	Enhancers	Right Ventricle	heart
17	chr22:23564600-23569800	Enhancers	Brain Cingulate Gyrus	brain
18	chr22:23564800-23569600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:23564800-23570200	Enhancers	Fetal Brain Male	brain
20	chr22:23564800-23570200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr22:23564800-23570200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr22:23564800-23570200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr22:23564800-23570200	Enhancers	Stomach Mucosa	stomach
24	chr22:23565000-23569800	Enhancers	Brain Hippocampus Middle	brain
25	chr22:23565400-23569600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr22:23565400-23570000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:23566000-23569600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:23566200-23569800	Enhancers	Adipose Nuclei	Adipose
29	chr22:23566400-23569600	Enhancers	Colonic Mucosa	Colon
30	chr22:23566600-23578200	Weak transcription	Ovary	ovary
31	chr22:23566600-23579400	Weak transcription	Fetal Kidney	kidney
32	chr22:23566800-23570200	Enhancers	Esophagus	oesophagus
33	chr22:23566800-23570200	Genic enhancers	K562	blood
34	chr22:23566800-23575200	Weak transcription	HepG2	liver
35	chr22:23567000-23569800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr22:23567000-23570000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:23567400-23569800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:23567400-23569800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:23567400-23569800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:23567400-23569800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:23567400-23570000	Flanking Active TSS	NHEK	skin
42	chr22:23567400-23570000	Enhancers	NHLF	lung
43	chr22:23567400-23570200	Enhancers	NHDF-Ad	bronchial
44	chr22:23567600-23569800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:23567600-23569800	Enhancers	Fetal Thymus	thymus
46	chr22:23567600-23570000	Enhancers	Osteobl	bone
47	chr22:23567800-23569600	Enhancers	Small Intestine	intestine
48	chr22:23567800-23570000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr22:23567800-23570400	Enhancers	Fetal Heart	heart
50	chr22:23568000-23569600	Enhancers	Thymus	Thymus

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