Variant report

Variant	rs11169652
Chromosome Location	chr12:51379384-51379385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51377924..51379984-chr12:51420251..51421770,2	MCF-7	breast:
2	chr12:51345574..51348481-chr12:51378601..51380683,2	K562	blood:
3	chr12:51377579..51380145-chr12:51442153..51443726,2	K562	blood:
4	chr12:51234738..51237496-chr12:51378684..51381232,2	K562	blood:

Variant related genes	Relation type
ENSG00000214511	Chromatin interaction
ENSG00000243075	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000186452	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1005559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1048230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169626	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169633	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169636	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169637	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169639	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169641	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169644	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169646	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11169647	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169648	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169649	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169661	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169667	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169670	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169671	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169672	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169682	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11519977	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831810	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs11831946	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs11833022	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs12366476	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12366756	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369278	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369639	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]
rs12369658	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369666	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370820	0.84[EUR][1000 genomes]
rs12371463	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12372173	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809563	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810174	0.83[EUR][1000 genomes]
rs12810596	0.83[EUR][1000 genomes]
rs12810659	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811508	0.82[CEU][hapmap]
rs12811658	0.83[EUR][1000 genomes]
rs12811684	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs12811777	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12812650	0.83[EUR][1000 genomes]
rs12812727	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12813309	0.83[EUR][1000 genomes]
rs12813368	0.83[EUR][1000 genomes]
rs12813728	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12817386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818033	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12819296	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12820966	0.83[EUR][1000 genomes]
rs12821444	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12822509	0.83[EUR][1000 genomes]
rs12824225	0.83[EUR][1000 genomes]
rs12824840	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12824958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12827861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12828349	0.83[EUR][1000 genomes]
rs12828536	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12830048	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830073	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12830422	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12831269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12831597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs15897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296192	0.82[CEU][hapmap]
rs224565	0.90[ASN][1000 genomes]
rs224577	0.81[ASN][1000 genomes]
rs224589	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs224591	0.87[ASN][1000 genomes]
rs2285228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516742	0.86[ASN][1000 genomes]
rs2630364	0.89[ASN][1000 genomes]
rs319932	0.90[ASN][1000 genomes]
rs34514224	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34735738	0.83[EUR][1000 genomes]
rs35037088	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35262273	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35379220	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35656976	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35999440	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs407135	0.87[ASN][1000 genomes]
rs422637	0.86[ASN][1000 genomes]
rs422982	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs440595	0.84[ASN][1000 genomes]
rs4444142	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4471501	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs454520	0.87[ASN][1000 genomes]
rs4768964	0.82[EUR][1000 genomes]
rs4768967	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs6580784	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6580792	0.81[CEU][hapmap]
rs6580793	0.82[CEU][hapmap]
rs67025973	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67133203	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67259551	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67260912	0.83[EUR][1000 genomes]
rs706801	0.93[ASN][1000 genomes]
rs706802	0.93[ASN][1000 genomes]
rs7135059	0.84[EUR][1000 genomes]
rs71445768	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71445772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305638	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306293	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73090655	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954140	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7959075	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7959082	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964570	0.83[EUR][1000 genomes]
rs7965566	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7972406	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7975147	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976777	0.83[EUR][1000 genomes]
rs7978723	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs7980874	0.84[EUR][1000 genomes]
rs829022	0.93[ASN][1000 genomes]
rs853235	0.81[ASN][1000 genomes]
rs970098	0.83[EUR][1000 genomes]
rs970099	0.83[EUR][1000 genomes]

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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:51331800-51382000	Weak transcription	Ovary	ovary
3	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
4	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
5	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
6	chr12:51350800-51380600	Weak transcription	Fetal Lung	lung
7	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:51359800-51380400	Weak transcription	Fetal Kidney	kidney
9	chr12:51360200-51381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:51360600-51381000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:51360600-51381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:51361600-51382200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:51362400-51382000	Weak transcription	Lung	lung
14	chr12:51362800-51384400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:51363400-51384000	Weak transcription	Colonic Mucosa	Colon
16	chr12:51363600-51381200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:51364000-51380400	Weak transcription	K562	blood
18	chr12:51364600-51384400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:51366200-51380000	Weak transcription	Dnd41	blood
20	chr12:51366400-51379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:51366600-51380200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:51366800-51382000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:51367000-51379600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:51367000-51380400	Weak transcription	Fetal Brain Female	brain
25	chr12:51367000-51380400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:51367000-51382000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:51367200-51379800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:51367200-51382000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:51367200-51382000	Weak transcription	Fetal Stomach	stomach
30	chr12:51367200-51382200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:51367400-51381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:51371600-51380600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:51372200-51384600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:51373000-51381000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:51373400-51383400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:51373800-51380200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:51374000-51380600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:51374000-51381400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:51374200-51382000	Weak transcription	Pancreas	Pancrea
40	chr12:51374800-51380200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:51375000-51380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:51375400-51380400	Weak transcription	Placenta	Placenta
43	chr12:51375400-51381800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:51375600-51379400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:51375600-51380200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:51375600-51380200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:51375600-51380400	Weak transcription	Fetal Intestine Large	intestine
48	chr12:51375600-51380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:51375600-51380800	Weak transcription	Left Ventricle	heart
50	chr12:51375600-51381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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