Variant report

Variant	rs6473996
Chromosome Location	chr8:48240805-48240806
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10099236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10108778	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10441557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11776864	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12547497	0.93[EUR][1000 genomes]
rs12682269	0.80[CEU][hapmap]
rs2362555	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34506397	0.95[ASN][1000 genomes]
rs35332377	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4379458	0.81[JPT][hapmap]
rs4873101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873463	0.94[JPT][hapmap]
rs58299877	0.91[EUR][1000 genomes]
rs6472452	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6981485	0.91[EUR][1000 genomes]
rs6987882	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6990363	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs7825148	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7828350	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7832841	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833589	0.93[JPT][hapmap]
rs7835668	0.89[ASN][1000 genomes]
rs7846620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
10	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:48207600-48245600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:48207600-48248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:48208400-48243800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:48208800-48242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:48210000-48242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:48210600-48243000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:48216200-48249600	Weak transcription	Ovary	ovary
10	chr8:48216200-48252400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:48216800-48242600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:48222000-48243000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:48222400-48242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:48222600-48242600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:48222600-48242800	Weak transcription	Primary T cells from cord blood	blood
16	chr8:48222600-48243000	Weak transcription	HSMM	muscle
17	chr8:48222800-48243200	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:48223400-48242800	Weak transcription	Fetal Intestine Large	intestine
19	chr8:48223400-48252600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:48223600-48242000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:48223800-48242800	Weak transcription	GM12878-XiMat	blood
22	chr8:48224400-48243000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:48228000-48243200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:48228000-48243400	Weak transcription	Liver	Liver
25	chr8:48228200-48242800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:48228200-48243400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:48228200-48243400	Weak transcription	Fetal Kidney	kidney
28	chr8:48228200-48246200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:48228200-48248800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:48228200-48251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:48228200-48254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:48228200-48256000	Weak transcription	Left Ventricle	heart
33	chr8:48228600-48242800	Weak transcription	Fetal Lung	lung
34	chr8:48228600-48265800	Weak transcription	K562	blood
35	chr8:48230000-48252400	Weak transcription	Lung	lung
36	chr8:48230200-48242000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:48230200-48248200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:48230400-48242800	Weak transcription	Primary B cells from cord blood	blood
39	chr8:48230400-48248200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:48230400-48252200	Weak transcription	Fetal Stomach	stomach
41	chr8:48230400-48256200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:48230400-48267400	Weak transcription	Spleen	Spleen
43	chr8:48230600-48242400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:48230600-48243000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:48230600-48243000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:48230600-48243000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:48230600-48248000	Weak transcription	Fetal Intestine Small	intestine
48	chr8:48230600-48252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:48235000-48241000	Weak transcription	Dnd41	blood
50	chr8:48236200-48243600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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