Variant report

Variant	rs12977285
Chromosome Location	chr19:37077172-37077173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10406248	1.00[ASN][1000 genomes]
rs10409123	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10409422	0.91[AFR][1000 genomes]
rs10413833	1.00[ASN][1000 genomes]
rs10419469	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10421461	0.87[ASW][hapmap];0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10421862	0.85[CEU][hapmap];1.00[GIH][hapmap];0.81[YRI][hapmap]
rs10424565	1.00[ASW][hapmap];0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10427118	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11878498	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882116	0.81[EUR][1000 genomes]
rs12710046	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972864	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973571	0.87[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.85[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977486	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290681	0.92[CHD][hapmap]
rs28520081	0.81[AFR][1000 genomes]
rs2945968	0.82[JPT][hapmap]
rs34519098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71356009	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71356010	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes]
rs8182626	1.00[ASN][1000 genomes]
rs9676533	0.85[CEU][hapmap]
rs9676627	1.00[CEU][hapmap]
rs9967600	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	73 gene(s)	inside rSNPs	diseases
7	esv3434386	chr19:37073454-37114509	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37065600-37081200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37065600-37095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:37065800-37078200	Weak transcription	Right Ventricle	heart
4	chr19:37066000-37081200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:37066000-37081200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:37066600-37080600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:37066800-37081000	Strong transcription	Dnd41	blood
8	chr19:37066800-37091400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:37067000-37080800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:37067000-37081200	ZNF genes & repeats	Liver	Liver
11	chr19:37067000-37081200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:37068800-37083000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:37070000-37095400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:37070600-37078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:37071400-37079000	Weak transcription	NH-A	brain
16	chr19:37072000-37081800	Weak transcription	HUVEC	blood vessel
17	chr19:37072200-37079400	Weak transcription	NHDF-Ad	bronchial
18	chr19:37072400-37079200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:37072600-37077600	Weak transcription	HepG2	liver
20	chr19:37072600-37078400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:37072600-37078400	Weak transcription	Brain Angular Gyrus	brain
22	chr19:37072600-37078400	Weak transcription	Fetal Heart	heart
23	chr19:37072600-37079000	Weak transcription	Brain Substantia Nigra	brain
24	chr19:37072600-37079400	Weak transcription	Fetal Brain Male	brain
25	chr19:37072600-37080600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:37072600-37080600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:37072600-37081200	Weak transcription	NHLF	lung
28	chr19:37072600-37082000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:37072800-37077600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:37072800-37078400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr19:37072800-37079800	Weak transcription	Pancreas	Pancrea
32	chr19:37072800-37080800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:37073000-37078400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:37073000-37081800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:37073200-37078200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:37073200-37078400	Weak transcription	Placenta	Placenta
37	chr19:37073200-37079800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:37073400-37077200	Weak transcription	Fetal Stomach	stomach
39	chr19:37073400-37078400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:37074000-37078400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:37074000-37080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:37074400-37078200	Weak transcription	Psoas Muscle	Psoas
43	chr19:37074400-37080000	Weak transcription	HSMMtube	muscle
44	chr19:37074800-37077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:37074800-37077600	Weak transcription	Osteobl	bone
46	chr19:37075000-37080600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:37075200-37081400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:37075400-37077600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:37075400-37080000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:37075400-37080400	ZNF genes & repeats	Aorta	Aorta

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