Variant report

Variant	rs2916748
Chromosome Location	chr8:6305954-6305955
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11986515	1.00[AMR][1000 genomes]
rs11990038	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11994936	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1550691	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17076853	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17076868	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17076872	1.00[CHB][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2440420	1.00[CHB][hapmap]
rs2442513	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap]
rs2916656	1.00[CHB][hapmap]
rs2916749	0.85[YRI][hapmap]
rs2920673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2922812	1.00[CHD][hapmap]
rs3020273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021380	1.00[CHB][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]
rs894896	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1026004	chr8:6144798-6307692	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv539431	chr8:6144798-6307692	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv933107	chr8:6173244-6312807	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv531468	chr8:6248682-6309194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:6282800-6313400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:6287200-6309200	Weak transcription	Fetal Brain Male	brain
4	chr8:6287600-6306600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:6287600-6307600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:6287600-6344400	Weak transcription	Small Intestine	intestine
7	chr8:6289000-6308000	Strong transcription	Dnd41	blood
8	chr8:6289200-6306200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr8:6289200-6306400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:6289400-6306600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:6297800-6306000	Strong transcription	Adipose Nuclei	Adipose
12	chr8:6297800-6306000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr8:6297800-6307600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:6298000-6307600	Strong transcription	GM12878-XiMat	blood
15	chr8:6299200-6308000	Strong transcription	Fetal Thymus	thymus
16	chr8:6300000-6306200	Strong transcription	Primary T cells from cord blood	blood
17	chr8:6300000-6306200	Strong transcription	Fetal Lung	lung
18	chr8:6301000-6309600	Weak transcription	Fetal Heart	heart
19	chr8:6301000-6338400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:6301400-6308800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:6301600-6306200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:6302600-6307200	Weak transcription	HMEC	breast
23	chr8:6302800-6313800	Weak transcription	Brain Angular Gyrus	brain
24	chr8:6302800-6339800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:6303000-6307200	Weak transcription	Thymus	Thymus
26	chr8:6303000-6307200	Weak transcription	HSMM	muscle
27	chr8:6303000-6307800	Weak transcription	Aorta	Aorta
28	chr8:6303000-6309000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:6303000-6310200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:6303000-6311800	Weak transcription	NHDF-Ad	bronchial
31	chr8:6303000-6312000	Weak transcription	HSMMtube	muscle
32	chr8:6303000-6312400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:6303000-6313400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:6303000-6313800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:6303000-6317200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:6303000-6317800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:6303000-6319400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:6303000-6321000	Weak transcription	Psoas Muscle	Psoas
39	chr8:6303000-6321000	Weak transcription	Hela-S3	cervix
40	chr8:6303000-6322800	Weak transcription	Ovary	ovary
41	chr8:6303000-6322800	Weak transcription	Spleen	Spleen
42	chr8:6303000-6325000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:6303000-6325200	Weak transcription	Pancreas	Pancrea
44	chr8:6303000-6338200	Weak transcription	Gastric	stomach
45	chr8:6303000-6338200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:6303000-6338400	Weak transcription	Colonic Mucosa	Colon
47	chr8:6303000-6338400	Weak transcription	Right Ventricle	heart
48	chr8:6303000-6339400	Weak transcription	Placenta	Placenta
49	chr8:6303200-6306400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:6303200-6306400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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