Variant report

Variant	rs12819517
Chromosome Location	chr12:51517710-51517711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51516030..51518469-chr12:51520883..51522469,2	K562	blood:
2	chr12:51475824..51478649-chr12:51516706..51519135,3	MCF-7	breast:
3	chr12:51515480..51517726-chr12:51526699..51529552,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1056897	0.81[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10747604	0.91[ASN][1000 genomes]
rs11169642	0.84[CEU][hapmap]
rs11169682	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs11169712	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169726	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169727	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169729	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169731	0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169732	0.88[AMR][1000 genomes]
rs11169736	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11169742	0.92[AMR][1000 genomes]
rs11169752	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs11169754	0.86[AMR][1000 genomes]
rs11738	0.88[AMR][1000 genomes]
rs11831810	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11831946	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11833022	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11834746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370820	0.87[EUR][1000 genomes]
rs12809790	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12809832	0.92[AMR][1000 genomes]
rs12810174	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12810455	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12810596	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810700	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810990	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12811508	0.94[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12811658	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811684	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12812650	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12813309	0.85[EUR][1000 genomes]
rs12813368	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12814498	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819225	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12820074	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12820559	0.82[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12820966	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12822509	0.88[EUR][1000 genomes]
rs12823402	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12824225	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12826153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12828349	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12829630	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12833565	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17296192	0.94[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34057357	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34481246	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34498074	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34735738	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768964	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768967	0.93[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6580784	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580792	0.94[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6580793	0.94[CEU][hapmap];0.87[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67260912	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67293043	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7135059	0.87[EUR][1000 genomes]
rs7954140	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7958064	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7960381	0.88[CEU][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7964570	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7976777	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977104	0.81[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7978723	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7980874	0.87[EUR][1000 genomes]
rs970098	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs970099	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477400-51518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51477800-51518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51477800-51518400	Weak transcription	Pancreas	Pancrea
4	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:51494600-51518200	Weak transcription	Esophagus	oesophagus
8	chr12:51494800-51518400	Weak transcription	Aorta	Aorta
9	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:51501000-51521000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:51501800-51518400	Weak transcription	Spleen	Spleen
12	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
13	chr12:51502600-51518400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:51503000-51518400	Weak transcription	NHLF	lung
16	chr12:51503200-51518600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
18	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:51504400-51518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:51504400-51518400	Weak transcription	Ovary	ovary
21	chr12:51504800-51518200	Weak transcription	Gastric	stomach
22	chr12:51504800-51518600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:51504800-51518600	Weak transcription	Brain Substantia Nigra	brain
24	chr12:51504800-51518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:51505200-51518200	Weak transcription	Lung	lung
27	chr12:51507600-51519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:51508200-51518200	Weak transcription	Left Ventricle	heart
32	chr12:51508200-51518200	Weak transcription	HUVEC	blood vessel
33	chr12:51509600-51520800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:51509800-51518200	Weak transcription	Brain Germinal Matrix	brain
35	chr12:51509800-51518600	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:51510200-51518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:51510200-51518000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:51510200-51518200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:51510200-51518400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:51510200-51518400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:51510200-51518600	Weak transcription	Brain Anterior Caudate	brain
42	chr12:51510200-51518600	Weak transcription	NHDF-Ad	bronchial
43	chr12:51510200-51519200	Weak transcription	Fetal Heart	heart
44	chr12:51510200-51520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:51510200-51526000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:51510200-51554400	Weak transcription	K562	blood
48	chr12:51510800-51517800	Weak transcription	Fetal Intestine Small	intestine
49	chr12:51511000-51517800	Weak transcription	Fetal Stomach	stomach
50	chr12:51511000-51518000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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