Variant report

Variant	rs12318215
Chromosome Location	chr12:8872492-8872493
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8849908..8851880-chr12:8870229..8872917,2	K562	blood:
2	chr12:8849017..8851561-chr12:8871005..8872532,2	MCF-7	breast:
3	chr12:8865412..8867803-chr12:8870697..8872686,2	K562	blood:

Variant related genes	Relation type
ENSG00000166532	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 3 )

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];0.97[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046872	0.81[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];1.00[MKK][hapmap];1.00[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];0.95[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];0.95[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12304092	0.90[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]
rs12307610	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]
rs12309618	0.85[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];0.85[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];0.95[YRI][hapmap];0.96[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];1.00[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]
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];0.80[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];0.85[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];0.80[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];0.94[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];0.97[MKK][hapmap];0.95[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];0.92[MKK][hapmap];0.80[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313569	1.00[CEU][hapmap];0.85[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];0.95[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059968	0.96[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	0.94[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];0.92[MKK][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12318215	CD2	trans	lymphoblastoid	seeQTL
rs12318215	AICDA	cis	lymphoblastoid	seeQTL
rs12318215	FERMT1	trans	lymphoblastoid	seeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8851800-8873200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:8851800-8877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:8852600-8874600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:8852600-8880000	Weak transcription	HMEC	breast
5	chr12:8852800-8877200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:8852800-8908600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:8853000-8873200	Weak transcription	A549	lung
8	chr12:8853000-8875600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:8853200-8934000	Weak transcription	K562	blood
10	chr12:8855600-8875200	Weak transcription	Fetal Kidney	kidney
11	chr12:8860000-8876400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:8860000-8881600	Weak transcription	Spleen	Spleen
13	chr12:8862200-8880000	Weak transcription	Pancreas	Pancrea
14	chr12:8862400-8875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:8862400-8875200	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:8862400-8877200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:8862400-8880000	Weak transcription	Esophagus	oesophagus
18	chr12:8862400-8894800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:8862400-8895000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:8862400-8902400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:8862600-8875000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:8862600-8879000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:8862600-8894800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:8862800-8875600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:8862800-8879600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:8862800-8880200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:8862800-8881800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:8862800-8905400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:8862800-8908000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:8863800-8876400	Weak transcription	Fetal Stomach	stomach
31	chr12:8864000-8876400	Weak transcription	Fetal Intestine Small	intestine
32	chr12:8864000-8877800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:8864800-8875200	Weak transcription	Fetal Heart	heart
34	chr12:8865000-8895200	Weak transcription	Psoas Muscle	Psoas
35	chr12:8865400-8873200	Weak transcription	Left Ventricle	heart
36	chr12:8865400-8873600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:8865400-8873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:8865400-8877200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:8865400-8877200	Weak transcription	Lung	lung
40	chr12:8865400-8877200	Weak transcription	Ovary	ovary
41	chr12:8865400-8877200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:8865400-8878600	Weak transcription	Gastric	stomach
43	chr12:8865600-8877200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:8865600-8887600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:8865800-8888600	Weak transcription	Brain Anterior Caudate	brain
46	chr12:8866000-8875600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:8866000-8880000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:8866000-8895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:8866000-8896600	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:8866200-8873800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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