Variant report

Variant	rs17497656
Chromosome Location	chr12:31675829-31675830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1038066	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs1269139	0.80[EUR][1000 genomes]
rs12809140	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12812075	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12812141	0.86[CEU][hapmap]
rs12816170	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12816386	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12818749	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819062	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12820294	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821808	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12822601	0.93[EUR][1000 genomes]
rs12825207	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826193	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12831480	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17497517	1.00[CEU][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]
rs17497998	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126897	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34007930	0.88[EUR][1000 genomes]
rs34094545	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184789	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34271764	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34308937	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34450466	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34585237	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34642866	0.88[EUR][1000 genomes]
rs34667511	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34949976	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34955459	0.90[EUR][1000 genomes]
rs34986122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35029695	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35193529	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35545963	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35567364	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35679974	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35692484	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3850967	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4338625	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930981	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930983	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931485	0.81[EUR][1000 genomes]
rs4931498	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4931503	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4931504	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4931510	1.00[CEU][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]
rs4931518	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635343	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55643034	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55771933	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56183451	0.88[EUR][1000 genomes]
rs56234529	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56282720	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409505	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66479670	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66520413	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66552209	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs66597773	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66635949	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67415228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67963293	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68030436	0.86[EUR][1000 genomes]
rs71455664	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs71455667	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71455668	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71455669	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71455670	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455671	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080503	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73084486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086471	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088505	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088597	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31667800-31687600	Weak transcription	Pancreas	Pancrea
2	chr12:31669800-31677800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:31670000-31676400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:31670200-31676800	Enhancers	Fetal Heart	heart
5	chr12:31671000-31680200	Weak transcription	Right Atrium	heart
6	chr12:31671400-31677600	Enhancers	GM12878-XiMat	blood
7	chr12:31671800-31677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:31672000-31678600	Weak transcription	Left Ventricle	heart
9	chr12:31672200-31678400	Weak transcription	Adipose Nuclei	Adipose
10	chr12:31672200-31678600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:31672200-31680000	Weak transcription	Right Ventricle	heart
12	chr12:31672400-31676000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:31672400-31676600	Enhancers	Hela-S3	cervix
14	chr12:31672400-31677200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:31672600-31677600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:31672600-31679000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:31672800-31677800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:31672800-31681000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:31673000-31677200	Weak transcription	HSMMtube	muscle
20	chr12:31673000-31678000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:31673000-31678000	Weak transcription	Fetal Brain Female	brain
22	chr12:31673000-31684600	Weak transcription	Aorta	Aorta
23	chr12:31673000-31685200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:31673200-31679600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:31673400-31676200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:31673400-31676800	Weak transcription	HSMM	muscle
27	chr12:31673400-31677600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:31673400-31677600	Weak transcription	HMEC	breast
29	chr12:31673400-31677800	Weak transcription	Primary B cells from cord blood	blood
30	chr12:31673400-31677800	Weak transcription	NHDF-Ad	bronchial
31	chr12:31673400-31681200	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:31673400-31681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:31673400-31688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:31674000-31676800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:31674200-31676400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:31674600-31676000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:31674600-31676200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:31674600-31676400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:31674600-31676400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr12:31674600-31677000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:31674600-31677200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:31674600-31677400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:31674600-31678200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:31674600-31678600	Enhancers	Osteobl	bone
45	chr12:31675000-31676000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:31675000-31676400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:31675000-31677000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:31675200-31677000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr12:31675200-31677400	Weak transcription	NHEK	skin
50	chr12:31675200-31678400	Weak transcription	HepG2	liver

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