Variant report

Variant	rs10431372
Chromosome Location	chr12:121128514-121128515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
2	chr12:121127233..121131774-chr12:121146015..121149455,5	MCF-7	breast:
3	chr12:121092373..121094051-chr12:121128187..121130355,2	MCF-7	breast:
4	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
5	chr12:121126786..121129760-chr12:121147311..121149770,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175970	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10431383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774565	0.82[CHB][hapmap]
rs10849774	0.86[EUR][1000 genomes]
rs10849780	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849781	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065184	0.86[EUR][1000 genomes]
rs11065186	0.86[EUR][1000 genomes]
rs11065188	0.86[EUR][1000 genomes]
rs11065189	0.86[EUR][1000 genomes]
rs11065191	0.86[EUR][1000 genomes]
rs11065192	0.86[EUR][1000 genomes]
rs11065193	0.86[EUR][1000 genomes]
rs11065194	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs11065195	1.00[EUR][1000 genomes]
rs11065196	1.00[EUR][1000 genomes]
rs11065197	0.82[CHB][hapmap];1.00[EUR][1000 genomes]
rs11065198	1.00[EUR][1000 genomes]
rs11065199	1.00[EUR][1000 genomes]
rs11065204	1.00[EUR][1000 genomes]
rs11065205	1.00[EUR][1000 genomes]
rs11065214	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065215	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065221	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065224	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065229	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065234	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065235	0.81[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065238	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065240	0.82[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065241	0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs11065242	0.81[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065243	0.84[ASN][1000 genomes]
rs11065244	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065245	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065246	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065262	0.83[EUR][1000 genomes]
rs12228118	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12228187	0.86[EUR][1000 genomes]
rs12229164	1.00[EUR][1000 genomes]
rs12229181	1.00[EUR][1000 genomes]
rs12231101	0.86[EUR][1000 genomes]
rs12231499	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12310160	0.82[CHB][hapmap]
rs17848090	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071266	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2229534	0.80[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2239687	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2239757	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239759	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3751166	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809310	0.86[EUR][1000 genomes]
rs3809311	0.86[EUR][1000 genomes]
rs7302002	1.00[EUR][1000 genomes]
rs7973568	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3498619	chr12:121124863-121129114	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3498630	chr12:121124863-121129114	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121126000-121129000	Enhancers	Spleen	Spleen
2	chr12:121126200-121130400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:121126800-121128600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:121126800-121129600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr12:121126800-121131000	Enhancers	Placenta	Placenta
6	chr12:121127000-121129000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:121127000-121131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:121127200-121128800	Enhancers	Brain Angular Gyrus	brain
9	chr12:121127200-121129000	Enhancers	Thymus	Thymus
10	chr12:121127200-121131000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:121127400-121128600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:121127400-121128800	Enhancers	Lung	lung
13	chr12:121127400-121128800	Enhancers	Ovary	ovary
14	chr12:121127400-121129200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:121127400-121129600	Enhancers	Gastric	stomach
16	chr12:121127400-121130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:121127400-121130200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:121127400-121130800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:121127400-121131000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:121127400-121131800	Weak transcription	Fetal Brain Female	brain
21	chr12:121127600-121128600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:121127600-121128600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:121127600-121128600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:121127600-121128600	Weak transcription	Colonic Mucosa	Colon
25	chr12:121127600-121128600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr12:121127600-121128600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:121127600-121128600	Enhancers	Fetal Thymus	thymus
28	chr12:121127600-121128600	Genic enhancers	Dnd41	blood
29	chr12:121127600-121128800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:121127600-121129000	Enhancers	Pancreas	Pancrea
31	chr12:121127600-121129000	Weak transcription	Small Intestine	intestine
32	chr12:121127600-121129000	Genic enhancers	K562	blood
33	chr12:121127600-121129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:121127600-121129200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:121127600-121129200	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:121127600-121129200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:121127600-121129400	Enhancers	Fetal Heart	heart
38	chr12:121127600-121129600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:121127600-121130000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:121127600-121130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:121127600-121130000	Enhancers	Liver	Liver
42	chr12:121127600-121130000	Weak transcription	NHDF-Ad	bronchial
43	chr12:121127600-121130000	Weak transcription	NHLF	lung
44	chr12:121127600-121130400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:121127600-121130400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:121127600-121130400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:121127600-121130400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:121127600-121130600	Enhancers	Fetal Lung	lung
49	chr12:121127600-121130600	Enhancers	Psoas Muscle	Psoas
50	chr12:121127600-121130800	Enhancers	Left Ventricle	heart

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