Variant report

Variant	rs10431387
Chromosome Location	chr12:121280839-121280840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121267888..121269471-chr12:121280210..121282195,2	K562	blood:
2	chr12:121212492..121214058-chr12:121280617..121282475,2	MCF-7	breast:
3	chr12:121273900..121276013-chr12:121279474..121281086,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10160872	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1027556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039302	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10437838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10459142	0.81[ASN][1000 genomes]
rs10744754	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10774568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10774569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774570	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10774571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774573	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774575	0.81[ASN][1000 genomes]
rs10774576	0.81[ASN][1000 genomes]
rs10849782	0.91[AMR][1000 genomes]
rs10849785	0.92[MEX][hapmap]
rs10849786	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs10849787	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849788	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849789	0.92[MEX][hapmap]
rs10849790	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849792	0.92[MEX][hapmap]
rs10849793	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10849794	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10849800	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849803	0.90[EUR][1000 genomes]
rs10849805	0.86[CEU][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849806	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849808	0.92[MEX][hapmap]
rs10849810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849812	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10849813	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849814	1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];0.87[EUR][1000 genomes]
rs11065259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11065272	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11065298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065313	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065319	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065320	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065321	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1151849	0.86[YRI][hapmap]
rs1151862	0.86[YRI][hapmap]
rs11829904	0.81[YRI][hapmap]
rs11833706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12310161	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12423697	0.87[EUR][1000 genomes]
rs13746	0.83[YRI][hapmap]
rs2049211	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2393718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2393725	0.80[AMR][1000 genomes]
rs3213568	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213569	1.00[CEU][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap]
rs3213571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3809314	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs471688	0.86[YRI][hapmap]
rs508595	0.80[YRI][hapmap]
rs531782	0.93[YRI][hapmap]
rs56137011	0.87[EUR][1000 genomes]
rs56161401	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs610694	0.86[YRI][hapmap]
rs624216	0.86[YRI][hapmap]
rs625228	0.81[LWK][hapmap];0.93[YRI][hapmap]
rs6489780	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6489781	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6489782	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7131886	0.84[EUR][1000 genomes]
rs7135147	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7135426	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7139145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs715319	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7300695	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7306083	0.81[EUR][1000 genomes]
rs7315439	0.89[ASN][1000 genomes]
rs7316450	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73229114	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73229156	0.93[EUR][1000 genomes]
rs7954254	0.88[EUR][1000 genomes]
rs7960784	0.82[ASN][1000 genomes]
rs7965332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977343	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121267200-121282800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:121267600-121285800	Weak transcription	Colonic Mucosa	Colon
3	chr12:121269800-121281200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121269800-121281200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:121269800-121282800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:121269800-121291400	Weak transcription	Fetal Intestine Large	intestine
7	chr12:121272800-121285600	Weak transcription	Hela-S3	cervix
8	chr12:121273400-121281200	Weak transcription	K562	blood
9	chr12:121273800-121282800	Weak transcription	Fetal Stomach	stomach
10	chr12:121274000-121284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:121274000-121285800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:121274000-121287200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:121274200-121282200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:121274200-121291800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:121274400-121282000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:121274400-121282200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:121274400-121282600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:121274400-121282800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:121274400-121282800	Weak transcription	Brain Germinal Matrix	brain
20	chr12:121274400-121284800	Weak transcription	Primary B cells from cord blood	blood
21	chr12:121274400-121285200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:121274400-121285200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:121274400-121285400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:121274400-121285400	Weak transcription	Aorta	Aorta
25	chr12:121274400-121285800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:121274400-121289400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:121274600-121281200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:121274600-121281200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:121274600-121281600	Weak transcription	Lung	lung
30	chr12:121274600-121282000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:121274600-121282200	Weak transcription	Spleen	Spleen
32	chr12:121274600-121282800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:121274600-121282800	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:121274600-121285200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:121274600-121289000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:121274600-121289800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:121274800-121281200	Weak transcription	Fetal Thymus	thymus
38	chr12:121274800-121281800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:121274800-121281800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:121274800-121282200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:121274800-121282200	Weak transcription	Thymus	Thymus
42	chr12:121274800-121282800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:121274800-121282800	Weak transcription	Esophagus	oesophagus
44	chr12:121274800-121283000	Weak transcription	NHEK	skin
45	chr12:121274800-121284600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:121274800-121291800	Weak transcription	Dnd41	blood
47	chr12:121275000-121284600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:121275000-121284600	Weak transcription	Fetal Lung	lung
49	chr12:121276200-121281000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:121276200-121282800	Weak transcription	Rectal Mucosa Donor 31	rectum

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