Variant report

Variant	rs12973571
Chromosome Location	chr19:37103381-37103382
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10406248	1.00[ASN][1000 genomes]
rs10409123	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10409422	0.86[AFR][1000 genomes]
rs10413833	1.00[ASN][1000 genomes]
rs10419469	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10421461	1.00[ASW][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10421862	0.87[ASW][hapmap];1.00[GIH][hapmap];0.81[YRI][hapmap]
rs10424565	0.87[ASW][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10427118	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11878498	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882116	0.81[EUR][1000 genomes]
rs12710046	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972864	0.87[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977285	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290681	0.91[CHD][hapmap];1.00[JPT][hapmap]
rs34519098	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71356009	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71356010	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105266	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes]
rs8182626	1.00[ASN][1000 genomes]
rs9676627	0.85[CEU][hapmap]

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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37096800-37104000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:37096800-37110000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:37097000-37104400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:37097000-37106000	Weak transcription	Fetal Thymus	thymus
5	chr19:37097000-37106800	Weak transcription	Stomach Mucosa	stomach
6	chr19:37097000-37107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:37097000-37107000	Weak transcription	Small Intestine	intestine
8	chr19:37097000-37107400	Weak transcription	HUVEC	blood vessel
9	chr19:37097000-37107800	Weak transcription	Gastric	stomach
10	chr19:37097000-37112600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:37097200-37104400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:37097200-37104800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:37097200-37105600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:37097200-37109600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:37097200-37110000	Weak transcription	NHLF	lung
16	chr19:37097400-37105200	Weak transcription	HepG2	liver
17	chr19:37098000-37103400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:37098000-37103600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:37098000-37104600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:37098000-37106200	Strong transcription	Brain Hippocampus Middle	brain
21	chr19:37098000-37118200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:37098000-37156000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:37098200-37103400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr19:37098200-37108400	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr19:37098200-37120400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:37098400-37103400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr19:37098400-37104000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:37098400-37105000	ZNF genes & repeats	Liver	Liver
29	chr19:37098400-37107400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:37098600-37104000	Strong transcription	Brain Anterior Caudate	brain
31	chr19:37098600-37104000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:37098600-37105200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr19:37098600-37105600	Strong transcription	Brain Angular Gyrus	brain
34	chr19:37098600-37106200	Strong transcription	Ovary	ovary
35	chr19:37098800-37103400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr19:37098800-37104000	Strong transcription	Brain Germinal Matrix	brain
37	chr19:37098800-37105000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:37098800-37106000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:37098800-37108200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:37099000-37105600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:37099000-37109200	Strong transcription	Dnd41	blood
42	chr19:37099200-37105800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr19:37099200-37110000	Strong transcription	Brain Cingulate Gyrus	brain
44	chr19:37099400-37103400	Strong transcription	Fetal Lung	lung
45	chr19:37099400-37103600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:37099600-37103600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:37099600-37103600	Strong transcription	Placenta	Placenta
48	chr19:37099600-37105800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:37099600-37108400	Strong transcription	Fetal Muscle Leg	muscle
50	chr19:37100200-37107600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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