Variant report

Variant	rs12171184
Chromosome Location	chr22:23572258-23572259
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23570287..23572401-chr22:23577282..23578904,2	MCF-7	breast:
2	chr22:23571843..23573484-chr22:23598551..23600806,2	MCF-7	breast:

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[AMR][1000 genomes]
rs12167689	1.00[AMR][1000 genomes]
rs12167792	1.00[AMR][1000 genomes]
rs12168185	1.00[AMR][1000 genomes]
rs12169624	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[AMR][1000 genomes]
rs9620230	1.00[AMR][1000 genomes]
rs9620231	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[AMR][1000 genomes]
rs9624055	1.00[AMR][1000 genomes]
rs9624061	1.00[AMR][1000 genomes]
rs9624065	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23562600-23573000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:23566600-23578200	Weak transcription	Ovary	ovary
3	chr22:23566600-23579400	Weak transcription	Fetal Kidney	kidney
4	chr22:23566800-23575200	Weak transcription	HepG2	liver
5	chr22:23568000-23580200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:23568800-23573200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:23569000-23586200	Weak transcription	A549	lung
8	chr22:23569600-23572400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:23569600-23573800	Weak transcription	Colonic Mucosa	Colon
10	chr22:23569600-23579800	Weak transcription	Small Intestine	intestine
11	chr22:23569800-23572600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:23569800-23575400	Weak transcription	Pancreas	Pancrea
13	chr22:23570000-23575200	Weak transcription	NHLF	lung
14	chr22:23570000-23589800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr22:23570200-23572400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:23570200-23572400	Weak transcription	Gastric	stomach
17	chr22:23570200-23572600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:23570200-23572800	Weak transcription	Placenta	Placenta
19	chr22:23570200-23572800	Weak transcription	Left Ventricle	heart
20	chr22:23570200-23572800	Weak transcription	Spleen	Spleen
21	chr22:23570200-23573000	Weak transcription	Right Atrium	heart
22	chr22:23570200-23573000	Weak transcription	NHDF-Ad	bronchial
23	chr22:23570200-23573200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:23570200-23573800	Weak transcription	Right Ventricle	heart
25	chr22:23570200-23574000	Weak transcription	Esophagus	oesophagus
26	chr22:23570200-23574800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr22:23570200-23577600	Weak transcription	NHEK	skin
28	chr22:23570200-23578000	Weak transcription	Stomach Mucosa	stomach
29	chr22:23570200-23578200	Weak transcription	Aorta	Aorta
30	chr22:23570200-23578400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:23570800-23573400	Strong transcription	Primary B cells from cord blood	blood
32	chr22:23571000-23576000	Weak transcription	HUVEC	blood vessel
33	chr22:23571000-23585400	Weak transcription	Hela-S3	cervix
34	chr22:23571200-23572600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:23571400-23573000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr22:23571400-23577200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:23571600-23572600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:23571600-23574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:23571600-23575800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr22:23571600-23576200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:23571600-23576800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:23571800-23572600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:23571800-23572600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr22:23571800-23573200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:23571800-23573200	Enhancers	Brain Cingulate Gyrus	brain
46	chr22:23571800-23573400	Strong transcription	K562	blood
47	chr22:23571800-23573800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:23571800-23573800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:23571800-23574000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr22:23571800-23574000	Genic enhancers	Primary T cells fromperipheralblood	blood

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