Variant report

Variant	rs6807571
Chromosome Location	chr3:143514942-143514943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11706302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11711676	0.84[EUR][1000 genomes]
rs11714765	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718136	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11720499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721078	0.83[CEU][hapmap];0.88[CHB][hapmap]
rs11919889	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919894	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16854322	0.82[CEU][hapmap]
rs16854336	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1868180	0.81[CEU][hapmap]
rs1985503	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2121775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34283894	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4589932	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4632538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55936201	0.84[EUR][1000 genomes]
rs56969315	0.84[EUR][1000 genomes]
rs6800578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1001076	chr3:143513526-143547076	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv536747	chr3:143513526-143547076	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143494800-143515600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:143494800-143515800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr3:143505800-143515400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:143505800-143525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:143506000-143521200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:143506400-143515800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:143510600-143515000	Weak transcription	Small Intestine	intestine
8	chr3:143512000-143529200	Weak transcription	Primary B cells from cord blood	blood
9	chr3:143512600-143515200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:143512800-143515800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:143513400-143517400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:143513600-143516800	Weak transcription	HSMM	muscle
13	chr3:143513600-143533600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:143513800-143515000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:143513800-143516000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:143513800-143517800	Weak transcription	Fetal Stomach	stomach
17	chr3:143513800-143525800	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:143514000-143515000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:143514000-143515200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:143514000-143524200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr3:143514000-143527400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:143514200-143515000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:143514200-143519800	Weak transcription	HSMMtube	muscle
24	chr3:143514200-143544200	Weak transcription	Primary T cells from cord blood	blood
25	chr3:143514400-143515000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:143514400-143515000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:143514400-143515000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr3:143514400-143515200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:143514600-143515000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:143514600-143515000	Enhancers	Brain Anterior Caudate	brain
31	chr3:143514600-143517000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:143514800-143515000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:143514800-143515000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:143514800-143515000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:143514800-143515000	Enhancers	Brain Substantia Nigra	brain
36	chr3:143514800-143515000	Enhancers	Colon Smooth Muscle	Colon
37	chr3:143514800-143515000	Enhancers	Esophagus	oesophagus
38	chr3:143514800-143515000	Enhancers	Fetal Lung	lung
39	chr3:143514800-143515000	Enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links