Variant report

Variant	rs12307610
Chromosome Location	chr12:8862161-8862162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8853948..8856246-chr12:8860962..8863055,2	K562	blood:
2	chr12:8859960..8862316-chr12:8865028..8867485,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10082771	1.00[ASN][1000 genomes]
rs10128818	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10505736	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10842109	1.00[ASN][1000 genomes]
rs10842131	1.00[ASN][1000 genomes]
rs11046766	1.00[ASN][1000 genomes]
rs11046832	1.00[ASN][1000 genomes]
rs11046858	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046872	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046887	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046900	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612882	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11616092	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12296571	0.92[ASN][1000 genomes]
rs12296587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296895	1.00[ASN][1000 genomes]
rs12297411	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];1.00[ASN][1000 genomes]
rs12299708	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300013	1.00[ASN][1000 genomes]
rs12302099	1.00[JPT][hapmap]
rs12303273	1.00[JPT][hapmap]
rs12303275	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12304092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306245	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12306562	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12309618	0.90[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314360	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12314822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318215	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16917739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302488	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35146959	1.00[ASN][1000 genomes]
rs3858672	1.00[ASN][1000 genomes]
rs56094803	1.00[ASN][1000 genomes]
rs56113263	1.00[ASN][1000 genomes]
rs56387756	1.00[ASN][1000 genomes]
rs56837371	1.00[ASN][1000 genomes]
rs56878267	1.00[ASN][1000 genomes]
rs57676185	1.00[ASN][1000 genomes]
rs57747511	1.00[ASN][1000 genomes]
rs58333563	0.83[ASN][1000 genomes]
rs58451473	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58503001	0.83[ASN][1000 genomes]
rs58544193	0.83[ASN][1000 genomes]
rs58612925	1.00[ASN][1000 genomes]
rs58732156	1.00[ASN][1000 genomes]
rs58863166	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58866787	1.00[ASN][1000 genomes]
rs58998046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59235894	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59306936	1.00[ASN][1000 genomes]
rs59562279	1.00[ASN][1000 genomes]
rs59566766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59750351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59824700	1.00[ASN][1000 genomes]
rs59935835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60048072	1.00[ASN][1000 genomes]
rs60224353	1.00[ASN][1000 genomes]
rs60331702	1.00[ASN][1000 genomes]
rs60932450	1.00[ASN][1000 genomes]
rs61054720	1.00[ASN][1000 genomes]
rs61101189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61187268	1.00[ASN][1000 genomes]
rs61395640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61431903	1.00[ASN][1000 genomes]
rs61450603	1.00[ASN][1000 genomes]
rs6487313	1.00[JPT][hapmap]
rs6487333	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6487347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487353	1.00[ASN][1000 genomes]
rs6487354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487361	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7132012	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7136480	1.00[ASN][1000 genomes]
rs7139182	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7299203	1.00[ASN][1000 genomes]
rs73036906	1.00[ASN][1000 genomes]
rs7303757	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7307494	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313569	1.00[CEU][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313580	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316051	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059963	1.00[ASN][1000 genomes]
rs74059966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059969	1.00[ASN][1000 genomes]
rs74059978	1.00[ASN][1000 genomes]
rs74059985	1.00[ASN][1000 genomes]
rs74059990	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs74059992	1.00[ASN][1000 genomes]
rs74061803	1.00[ASN][1000 genomes]
rs74061818	1.00[ASN][1000 genomes]
rs7954527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955163	1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960582	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7961340	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964869	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7968935	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7972763	1.00[ASN][1000 genomes]
rs7973476	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975293	1.00[ASN][1000 genomes]
rs7975977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977372	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12307610	CD2	trans	lymphoblastoid	seeQTL
rs12307610	FERMT1	trans	lymphoblastoid	seeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8851800-8863400	Weak transcription	Right Ventricle	heart
2	chr12:8851800-8873200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:8851800-8877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:8852600-8874600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:8852600-8880000	Weak transcription	HMEC	breast
6	chr12:8852800-8863800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:8852800-8864200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:8852800-8871400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:8852800-8877200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:8852800-8908600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:8853000-8871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:8853000-8873200	Weak transcription	A549	lung
13	chr12:8853000-8875600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:8853200-8868400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:8853200-8872400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:8853200-8934000	Weak transcription	K562	blood
17	chr12:8853400-8866400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:8853400-8866400	Weak transcription	NHEK	skin
19	chr12:8854000-8866200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:8854200-8862400	Weak transcription	Brain Germinal Matrix	brain
21	chr12:8855000-8870200	Weak transcription	Fetal Brain Male	brain
22	chr12:8855200-8868000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:8855600-8867800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:8855600-8875200	Weak transcription	Fetal Kidney	kidney
25	chr12:8856400-8866200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:8858800-8862600	Strong transcription	Hela-S3	cervix
27	chr12:8859600-8862200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:8859800-8863800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:8860000-8876400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:8860000-8881600	Weak transcription	Spleen	Spleen
31	chr12:8860200-8866000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:8860200-8868000	Weak transcription	Fetal Brain Female	brain
33	chr12:8860400-8862200	Weak transcription	Fetal Stomach	stomach
34	chr12:8861200-8862800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:8861200-8862800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:8861400-8862400	Active TSS	Aorta	Aorta
37	chr12:8861400-8862800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr12:8861600-8862600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:8861600-8862600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:8861600-8862800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:8861600-8862800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr12:8861600-8863400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:8861800-8862200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:8861800-8862200	Flanking Active TSS	Osteobl	bone
45	chr12:8861800-8862400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr12:8861800-8862400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:8861800-8862400	Enhancers	Fetal Lung	lung
48	chr12:8861800-8862600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:8861800-8862600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:8861800-8862600	Flanking Active TSS	Adipose Nuclei	Adipose

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