Variant report

Variant	rs12823194
Chromosome Location	chr12:122271130-122271131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122269742..122274031-chr12:122274605..122278008,6	MCF-7	breast:
2	chr12:122270278..122272801-chr12:122280369..122282682,2	K562	blood:
3	chr12:122270244..122271773-chr12:122272633..122275572,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1004390	0.84[EUR][1000 genomes]
rs10840619	0.82[EUR][1000 genomes]
rs10840630	1.00[ASN][1000 genomes]
rs10840631	1.00[ASN][1000 genomes]
rs10840632	1.00[ASN][1000 genomes]
rs10840633	1.00[ASN][1000 genomes]
rs11043202	0.88[EUR][1000 genomes]
rs11043203	0.88[EUR][1000 genomes]
rs11043207	0.83[EUR][1000 genomes]
rs11043225	1.00[ASN][1000 genomes]
rs11043233	1.00[ASN][1000 genomes]
rs11043244	1.00[ASN][1000 genomes]
rs11043246	1.00[ASN][1000 genomes]
rs11043251	1.00[ASN][1000 genomes]
rs11043271	1.00[ASN][1000 genomes]
rs11043278	1.00[ASN][1000 genomes]
rs11043280	1.00[ASN][1000 genomes]
rs11043288	1.00[ASN][1000 genomes]
rs1154514	1.00[ASN][1000 genomes]
rs11612028	1.00[ASN][1000 genomes]
rs1168664	0.80[EUR][1000 genomes]
rs1168665	0.81[EUR][1000 genomes]
rs1168666	0.82[EUR][1000 genomes]
rs1168668	0.82[EUR][1000 genomes]
rs1168669	0.85[EUR][1000 genomes]
rs1168671	0.80[EUR][1000 genomes]
rs1168672	0.85[EUR][1000 genomes]
rs1168673	0.80[EUR][1000 genomes]
rs1169070	1.00[ASN][1000 genomes]
rs1169071	1.00[ASN][1000 genomes]
rs12307227	0.87[EUR][1000 genomes]
rs12369331	1.00[ASN][1000 genomes]
rs12809676	1.00[ASN][1000 genomes]
rs12820413	0.82[EUR][1000 genomes]
rs12824593	1.00[ASN][1000 genomes]
rs12825161	1.00[ASN][1000 genomes]
rs12825630	0.81[EUR][1000 genomes]
rs1667578	0.85[EUR][1000 genomes]
rs1667579	0.80[EUR][1000 genomes]
rs1720033	1.00[ASN][1000 genomes]
rs1720037	1.00[ASN][1000 genomes]
rs1795965	0.86[EUR][1000 genomes]
rs2019561	0.85[EUR][1000 genomes]
rs2019562	0.81[EUR][1000 genomes]
rs2122266	0.89[EUR][1000 genomes]
rs2167067	1.00[ASN][1000 genomes]
rs2707057	0.83[EUR][1000 genomes]
rs2707067	0.82[EUR][1000 genomes]
rs34159444	1.00[ASN][1000 genomes]
rs7132055	1.00[ASN][1000 genomes]
rs7957564	0.83[EUR][1000 genomes]
rs7974348	0.83[EUR][1000 genomes]
rs895951	0.85[EUR][1000 genomes]
rs895952	0.85[EUR][1000 genomes]
rs895953	0.85[EUR][1000 genomes]
rs895954	0.81[EUR][1000 genomes]
rs895957	0.87[EUR][1000 genomes]
rs921286	0.84[EUR][1000 genomes]
rs921287	0.85[EUR][1000 genomes]
rs930665	0.81[EUR][1000 genomes]
rs9739381	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122250800-122277200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:122251200-122277000	Weak transcription	Right Atrium	heart
3	chr12:122252000-122271400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:122252000-122271400	Strong transcription	Fetal Intestine Small	intestine
5	chr12:122255000-122271600	Strong transcription	Fetal Thymus	thymus
6	chr12:122256000-122277000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:122256200-122277000	Weak transcription	Psoas Muscle	Psoas
8	chr12:122260400-122273800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:122262400-122276800	Weak transcription	K562	blood
10	chr12:122266000-122277000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:122266400-122276800	Weak transcription	Stomach Mucosa	stomach
12	chr12:122266800-122277000	Weak transcription	Fetal Kidney	kidney
13	chr12:122266800-122277000	Weak transcription	HSMM	muscle
14	chr12:122266800-122277200	Weak transcription	Fetal Brain Male	brain
15	chr12:122267000-122275200	Weak transcription	GM12878-XiMat	blood
16	chr12:122267000-122277000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:122267200-122277000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:122267600-122277000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:122267800-122277000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:122268000-122276800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:122268000-122276800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:122268200-122274000	Weak transcription	HepG2	liver
23	chr12:122268200-122277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:122268200-122277000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:122268400-122277000	Weak transcription	HMEC	breast
26	chr12:122269000-122274600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:122269000-122276800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:122269000-122277000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:122269000-122277000	Weak transcription	Brain Substantia Nigra	brain
30	chr12:122269000-122277000	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:122269000-122277000	Weak transcription	Fetal Lung	lung
32	chr12:122269200-122276200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:122269200-122276800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:122269200-122277000	Weak transcription	Gastric	stomach
35	chr12:122269200-122277000	Weak transcription	Pancreas	Pancrea
36	chr12:122269200-122277200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:122269200-122277200	Weak transcription	Aorta	Aorta
38	chr12:122269400-122277000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:122269600-122271200	Strong transcription	A549	lung
40	chr12:122270000-122277000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:122270200-122272400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:122270200-122272600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:122270200-122276200	Weak transcription	Spleen	Spleen
44	chr12:122270200-122276800	Weak transcription	Dnd41	blood
45	chr12:122270200-122276800	Weak transcription	Hela-S3	cervix
46	chr12:122270200-122277000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:122270200-122277000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:122270200-122277000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:122270200-122277000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:122270200-122277000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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