Variant report

Variant	rs12366756
Chromosome Location	chr12:51403206-51403207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:51402927-51403325	HL-60	blood:	n/a	n/a
2	GATA1	chr12:51402637-51403341	PBDE	blood:	n/a	chr12:51403327-51403334
3	SPI1	chr12:51402815-51403382	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51396990..51399929-chr12:51402029..51404417,2	K562	blood:
2	chr12:51398011..51404686-chr12:51416862..51423754,14	MCF-7	breast:
3	chr12:51397539..51404278-chr12:51405080..51409503,9	MCF-7	breast:
4	chr12:51403202..51405028-chr12:51412638..51414252,2	MCF-7	breast:

Variant related genes	Relation type
SLC11A2	TF binding region
ENSG00000110911	Chromatin interaction
ENSG00000272028	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1005559	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1048230	1.00[CEU][hapmap];0.86[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];0.94[ASN][1000 genomes]
rs10506298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506299	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169626	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169633	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169636	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169637	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169639	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169641	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169642	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169644	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169646	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11169647	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169648	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169649	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169652	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]
rs11169654	1.00[CEU][hapmap];0.86[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];0.94[ASN][1000 genomes]
rs11169655	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[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]
rs11169669	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169672	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169682	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs11519977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831810	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs11831946	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs11833022	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12366476	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12369278	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12369639	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]
rs12369658	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12369666	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12370820	0.84[EUR][1000 genomes]
rs12371463	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12372173	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12809563	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12810174	0.83[EUR][1000 genomes]
rs12810596	0.83[EUR][1000 genomes]
rs12810659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811658	0.83[EUR][1000 genomes]
rs12811684	0.83[EUR][1000 genomes]
rs12811777	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12812650	0.83[EUR][1000 genomes]
rs12812727	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12813309	0.83[EUR][1000 genomes]
rs12813368	0.83[EUR][1000 genomes]
rs12813728	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12818033	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12819296	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12820966	0.83[EUR][1000 genomes]
rs12821444	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12822509	0.83[EUR][1000 genomes]
rs12824225	0.83[EUR][1000 genomes]
rs12824840	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12824958	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12827861	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828349	0.83[EUR][1000 genomes]
rs12828536	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12830048	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12830073	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12830422	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12831269	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831597	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs15897	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17125137	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs224565	0.84[ASN][1000 genomes]
rs224577	0.81[ASN][1000 genomes]
rs224589	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs224591	0.93[ASN][1000 genomes]
rs2285228	1.00[CEU][hapmap];0.86[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];0.94[ASN][1000 genomes]
rs2285230	1.00[CEU][hapmap];0.86[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];0.94[ASN][1000 genomes]
rs2301529	1.00[CEU][hapmap];0.86[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];0.97[ASN][1000 genomes]
rs2516742	0.91[ASN][1000 genomes]
rs2630364	0.84[ASN][1000 genomes]
rs319932	0.90[ASN][1000 genomes]
rs34514224	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34735738	0.83[EUR][1000 genomes]
rs35037088	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35262273	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35379220	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35656976	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35999440	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs407135	0.93[ASN][1000 genomes]
rs422637	0.92[ASN][1000 genomes]
rs422982	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs440595	0.89[ASN][1000 genomes]
rs4444142	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4471501	0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs454520	0.93[ASN][1000 genomes]
rs4768964	0.82[EUR][1000 genomes]
rs4768967	0.82[EUR][1000 genomes]
rs6580784	0.83[EUR][1000 genomes]
rs67025973	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67133203	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67259551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67260912	0.83[EUR][1000 genomes]
rs706801	0.87[ASN][1000 genomes]
rs706802	0.87[ASN][1000 genomes]
rs7135059	0.84[EUR][1000 genomes]
rs71445768	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71445772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7305638	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306293	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73090655	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7488909	0.84[ASN][1000 genomes]
rs7954140	0.82[EUR][1000 genomes]
rs7959075	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7959082	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7964570	0.83[EUR][1000 genomes]
rs7965566	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7972406	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975147	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7976777	0.83[EUR][1000 genomes]
rs7978723	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs7980874	0.84[EUR][1000 genomes]
rs829022	0.87[ASN][1000 genomes]
rs853235	0.81[JPT][hapmap]
rs970098	0.83[EUR][1000 genomes]
rs970099	0.81[CEU][hapmap];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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
4	chr12:51389400-51405400	Weak transcription	Esophagus	oesophagus
5	chr12:51390000-51405800	Weak transcription	Stomach Mucosa	stomach
6	chr12:51394400-51403600	Weak transcription	Ovary	ovary
7	chr12:51399000-51403600	Weak transcription	NHLF	lung
8	chr12:51399000-51406200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:51399200-51404400	Weak transcription	NH-A	brain
10	chr12:51399200-51418000	Weak transcription	Gastric	stomach
11	chr12:51399400-51408200	Weak transcription	NHDF-Ad	bronchial
12	chr12:51399600-51405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:51399600-51405800	Weak transcription	Spleen	Spleen
14	chr12:51399800-51405200	Weak transcription	HUVEC	blood vessel
15	chr12:51399800-51406800	Weak transcription	A549	lung
16	chr12:51399800-51414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:51399800-51415600	Weak transcription	Right Ventricle	heart
18	chr12:51400000-51403600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:51400000-51407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:51400000-51407400	Weak transcription	HMEC	breast
21	chr12:51401000-51410800	Weak transcription	HepG2	liver
22	chr12:51401200-51403800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:51401400-51417800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:51401600-51410000	Weak transcription	Pancreas	Pancrea
25	chr12:51402000-51405400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:51402000-51405400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:51402000-51418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:51402000-51418000	Weak transcription	Fetal Stomach	stomach
29	chr12:51402200-51403400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:51402200-51403600	Enhancers	Primary B cells from cord blood	blood
31	chr12:51402200-51403600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr12:51402200-51403600	Enhancers	Fetal Intestine Small	intestine
33	chr12:51402200-51403600	Strong transcription	Hela-S3	cervix
34	chr12:51402200-51403600	Enhancers	HSMM	muscle
35	chr12:51402200-51403600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:51402200-51403800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:51402400-51403600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:51402400-51405200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:51402400-51405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:51402400-51405600	Weak transcription	NHEK	skin
41	chr12:51402400-51405800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:51402400-51406200	Weak transcription	Fetal Lung	lung
43	chr12:51402400-51406400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:51402400-51407200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:51402400-51407200	Weak transcription	Lung	lung
46	chr12:51402400-51408600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:51402400-51415600	Weak transcription	GM12878-XiMat	blood
48	chr12:51402400-51417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:51402400-51417600	Weak transcription	Left Ventricle	heart
50	chr12:51402400-51418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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