Variant report

Variant	rs310443
Chromosome Location	chr19:56175245-56175246
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11545669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310464	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs310465	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs310467	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs310470	1.00[AFR][1000 genomes]
rs310471	1.00[AFR][1000 genomes]
rs504003	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs507498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520125	1.00[CHB][hapmap]
rs522669	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs537728	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553947	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs56038728	1.00[AFR][1000 genomes]
rs57063593	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581023	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612211	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs630491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636466	1.00[AFR][1000 genomes]
rs636467	1.00[AFR][1000 genomes]
rs637788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644230	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs679577	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680444	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681433	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246799	1.00[AFR][1000 genomes]
rs889091	1.00[CHB][hapmap];1.00[CHD][hapmap]

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	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
7	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56169600-56181600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr19:56170000-56181600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:56170000-56181600	Strong transcription	Aorta	Aorta
4	chr19:56170000-56181800	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr19:56170000-56184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:56170200-56176000	Strong transcription	Primary hematopoietic stem cells	blood
7	chr19:56170200-56178400	Strong transcription	NHEK	skin
8	chr19:56170200-56181600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:56170200-56181800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:56170200-56182200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:56170200-56182400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:56170200-56182400	Strong transcription	Rectal Smooth Muscle	rectum
13	chr19:56170200-56184000	Strong transcription	Primary T cells from cord blood	blood
14	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
15	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
17	chr19:56170400-56177400	Strong transcription	Fetal Intestine Small	intestine
18	chr19:56170400-56179800	Strong transcription	Hela-S3	cervix
19	chr19:56170400-56181600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:56170400-56181600	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:56170400-56182200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:56170400-56183000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
25	chr19:56170600-56176200	Strong transcription	HUVEC	blood vessel
26	chr19:56170600-56176800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr19:56170600-56177800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:56170600-56178400	Strong transcription	HepG2	liver
29	chr19:56170600-56178600	Strong transcription	Brain Angular Gyrus	brain
30	chr19:56170600-56178800	Strong transcription	Esophagus	oesophagus
31	chr19:56170600-56181600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr19:56170600-56181600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:56170600-56181600	Strong transcription	Thymus	Thymus
34	chr19:56170600-56182400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:56170600-56182400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:56170800-56175800	Strong transcription	Fetal Lung	lung
37	chr19:56170800-56177400	Strong transcription	Gastric	stomach
38	chr19:56170800-56177600	Strong transcription	Right Ventricle	heart
39	chr19:56170800-56178200	Strong transcription	Fetal Intestine Large	intestine
40	chr19:56170800-56179000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr19:56170800-56181600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:56170800-56181600	Strong transcription	Colonic Mucosa	Colon
43	chr19:56170800-56182600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:56170800-56182800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
47	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
48	chr19:56171000-56178200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr19:56171000-56181400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:56171000-56181600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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