Variant report

Variant	rs12369639
Chromosome Location	chr12:51328269-51328270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51320296..51325528-chr12:51326081..51329757,6	K562	blood:
2	chr12:51155577..51158577-chr12:51327388..51330247,3	MCF-7	breast:
3	chr12:51233571..51235108-chr12:51328091..51331063,2	K562	blood:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1005559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1048230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506298	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506299	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169626	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169633	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169636	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169637	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169639	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169641	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169644	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169646	0.85[ASN][1000 genomes]
rs11169647	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169648	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169649	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169655	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169661	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169667	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169669	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169670	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169671	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169672	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169682	0.83[CEU][hapmap]
rs11519977	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831810	0.82[CEU][hapmap]
rs11831946	0.83[CEU][hapmap]
rs11833022	0.82[CEU][hapmap]
rs12366476	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366756	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12369278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369658	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369666	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371463	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12372173	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12809563	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810659	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811684	0.82[CEU][hapmap]
rs12811777	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812727	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813728	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817386	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12818033	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819296	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821444	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824840	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827861	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12828536	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830048	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12830073	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830422	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12831269	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12831597	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs15897	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17125137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17296192	0.84[CEU][hapmap]
rs224565	0.87[ASN][1000 genomes]
rs224589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs224591	0.85[ASN][1000 genomes]
rs2285228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2516742	0.83[ASN][1000 genomes]
rs2630364	0.86[ASN][1000 genomes]
rs319932	0.87[ASN][1000 genomes]
rs34514224	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35037088	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35262273	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35379220	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35656976	0.83[ASN][1000 genomes]
rs35999440	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407135	0.85[ASN][1000 genomes]
rs422637	0.83[ASN][1000 genomes]
rs422982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs440595	0.81[ASN][1000 genomes]
rs4444142	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs454520	0.85[ASN][1000 genomes]
rs4768967	0.82[CEU][hapmap]
rs6580784	0.82[CEU][hapmap]
rs67025973	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67133203	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67259551	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs706801	0.90[ASN][1000 genomes]
rs706802	0.90[ASN][1000 genomes]
rs71445768	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71445772	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305638	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306293	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090655	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954140	0.82[CEU][hapmap]
rs7959075	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959082	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965566	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972406	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7975147	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7978723	0.82[CEU][hapmap]
rs829022	0.90[ASN][1000 genomes]
rs853235	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51320200-51330600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:51320400-51328600	Weak transcription	HSMM	muscle
4	chr12:51322200-51332600	Weak transcription	Fetal Kidney	kidney
5	chr12:51322400-51329000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:51322800-51331800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:51323000-51331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
9	chr12:51323400-51330000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:51323400-51330800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:51323400-51330800	Weak transcription	Brain Germinal Matrix	brain
12	chr12:51323400-51330800	Weak transcription	Fetal Brain Female	brain
13	chr12:51323600-51328400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:51324200-51331200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:51324400-51331200	Enhancers	Stomach Mucosa	stomach
16	chr12:51324600-51331000	Weak transcription	Lung	lung
17	chr12:51325000-51329800	Enhancers	Fetal Intestine Small	intestine
18	chr12:51325200-51328800	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr12:51325400-51331000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:51325600-51328400	Genic enhancers	Primary B cells from cord blood	blood
21	chr12:51325600-51328400	Enhancers	Small Intestine	intestine
22	chr12:51325800-51328400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:51326200-51329600	Enhancers	Colon Smooth Muscle	Colon
24	chr12:51326400-51328400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:51326400-51328600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:51326400-51329600	Enhancers	Hela-S3	cervix
27	chr12:51326400-51331000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:51326600-51328800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:51326600-51329400	Enhancers	HMEC	breast
30	chr12:51326600-51329600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:51326800-51329800	Enhancers	Fetal Intestine Large	intestine
32	chr12:51327200-51328400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51327200-51328400	Enhancers	Psoas Muscle	Psoas
34	chr12:51327200-51328600	Enhancers	NHDF-Ad	bronchial
35	chr12:51327200-51329400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:51327200-51330800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:51327200-51331400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:51327400-51328400	Enhancers	Gastric	stomach
39	chr12:51327400-51328600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:51327400-51328800	Enhancers	HepG2	liver
41	chr12:51327400-51329400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:51327400-51329400	Enhancers	HSMMtube	muscle
43	chr12:51327400-51331400	Weak transcription	Colonic Mucosa	Colon
44	chr12:51327400-51331400	Enhancers	Placenta	Placenta
45	chr12:51327600-51328400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:51327600-51328400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:51327600-51328400	Genic enhancers	Brain Cingulate Gyrus	brain
48	chr12:51327600-51328400	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr12:51327600-51328600	Genic enhancers	Fetal Muscle Leg	muscle
50	chr12:51327600-51328800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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