Variant report

Variant	rs2514791
Chromosome Location	chr8:95275933-95275934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:95275871-95275957	GM12878	blood:	n/a	n/a
2	GATA2	chr8:95274240-95276524	SH-SY5Y	brain:	n/a	chr8:95276388-95276409 chr8:95274908-95274919 chr8:95276131-95276141
3	EP300	chr8:95274059-95276591	SK-N-SH	brain:	n/a	chr8:95274548-95274564 chr8:95276373-95276387 chr8:95275886-95275902 chr8:95274539-95274555 chr8:95274619-95274635 chr8:95274759-95274773 chr8:95274551-95274567

Variant related genes	Relation type
GEM	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1050616	0.82[GIH][hapmap];0.87[MEX][hapmap]
rs2250208	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445715	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470722	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470724	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470725	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470726	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs977274	0.83[MEX][hapmap]
rs981678	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95274600-95276200	Enhancers	Small Intestine	intestine
2	chr8:95274800-95276000	Flanking Active TSS	Colon Smooth Muscle	Colon
3	chr8:95275000-95276000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:95275000-95276000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:95275000-95276000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:95275000-95276000	Enhancers	Brain Angular Gyrus	brain
7	chr8:95275000-95276000	Enhancers	Brain Germinal Matrix	brain
8	chr8:95275000-95276000	Enhancers	Fetal Intestine Large	intestine
9	chr8:95275000-95276000	Enhancers	Ovary	ovary
10	chr8:95275000-95276000	Enhancers	Right Atrium	heart
11	chr8:95275000-95276200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:95275000-95276200	Enhancers	Fetal Heart	heart
13	chr8:95275000-95276200	Enhancers	HMEC	breast
14	chr8:95275000-95276400	Enhancers	Fetal Intestine Small	intestine
15	chr8:95275000-95276400	Enhancers	Fetal Stomach	stomach
16	chr8:95275000-95278600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:95275000-95284000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:95275200-95276000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:95275200-95276000	Enhancers	Aorta	Aorta
20	chr8:95275200-95276000	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:95275200-95276000	Enhancers	Rectal Smooth Muscle	rectum
22	chr8:95275200-95276000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:95275200-95276000	Enhancers	GM12878-XiMat	blood
24	chr8:95275200-95276000	Enhancers	NHLF	lung
25	chr8:95275200-95276200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:95275200-95276200	Enhancers	A549	lung
27	chr8:95275200-95276400	Enhancers	Primary T cells from cord blood	blood
28	chr8:95275200-95276400	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:95275200-95276400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:95275200-95276400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:95275200-95278600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:95275200-95278600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:95275200-95284200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:95275200-95284200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:95275400-95276200	Enhancers	Fetal Muscle Leg	muscle
36	chr8:95275400-95276200	Enhancers	Thymus	Thymus
37	chr8:95275400-95277600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:95275400-95278200	Weak transcription	Placenta	Placenta
39	chr8:95275400-95278400	Weak transcription	NHEK	skin
40	chr8:95275400-95278600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:95275400-95278800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:95275400-95284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:95275400-95284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:95275400-95284600	Weak transcription	Pancreas	Pancrea
45	chr8:95275600-95276000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:95275600-95276200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr8:95275600-95276400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:95275600-95276400	Enhancers	Fetal Thymus	thymus
49	chr8:95275600-95276400	Enhancers	Stomach Smooth Muscle	stomach
50	chr8:95275600-95278200	Weak transcription	NHDF-Ad	bronchial

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