Variant report

Variant	rs6991022
Chromosome Location	chr8:86401711-86401712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10453169	0.83[AFR][1000 genomes]
rs16913906	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16913907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16913910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16913914	0.80[YRI][hapmap]
rs2228063	1.00[YRI][hapmap]
rs6605616	0.88[YRI][hapmap]
rs6605620	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6989241	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs6989520	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6999831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003233	1.00[YRI][hapmap]
rs7007330	0.88[YRI][hapmap]
rs768404	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs7815610	0.88[YRI][hapmap]
rs7819757	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:86387200-86403600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:86389600-86402400	Weak transcription	Pancreas	Pancrea
4	chr8:86390400-86403400	Weak transcription	Stomach Mucosa	stomach
5	chr8:86393200-86403400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:86393200-86405400	Weak transcription	Fetal Stomach	stomach
7	chr8:86393400-86403800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:86393400-86403800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:86393400-86406800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:86393600-86402600	Weak transcription	Fetal Kidney	kidney
11	chr8:86396000-86402400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:86396200-86403600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:86396800-86406000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:86397200-86405600	Weak transcription	Gastric	stomach
15	chr8:86397200-86405800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:86397400-86404000	Weak transcription	Left Ventricle	heart
17	chr8:86397800-86402400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:86399400-86402000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:86400000-86401800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:86400600-86405200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr8:86400800-86401800	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr8:86400800-86402600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr8:86401000-86402000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:86401400-86402000	Strong transcription	Liver	Liver
25	chr8:86401600-86401800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
26	chr8:86401600-86401800	ZNF genes & repeats	Fetal Lung	lung
27	chr8:86401600-86406200	Strong transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links