Variant report

Variant	rs1571992
Chromosome Location	chr1:79472141-79472142
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11162592	0.81[EUR][1000 genomes]
rs1489387	0.89[CHB][hapmap]
rs1571988	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026448	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4316320	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4650627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650630	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650631	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4650632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6424626	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6680542	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830430	chr1:79310760-79555593	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1010441	chr1:79320299-79555315	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1001894	chr1:79351364-79542576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv535014	chr1:79351364-79542576	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv546623	chr1:79374579-79509109	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv871525	chr1:79403335-79518810	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv871276	chr1:79407980-79520554	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv470720	chr1:79411764-79491206	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv870769	chr1:79420491-79491206	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv871645	chr1:79431407-79501129	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv462139	chr1:79471959-79519427	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv546629	chr1:79471959-79519427	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79468000-79472200	Active TSS	Adipose Nuclei	Adipose
2	chr1:79468800-79472800	Active TSS	Right Atrium	heart
3	chr1:79469200-79472800	Active TSS	Psoas Muscle	Psoas
4	chr1:79470000-79472400	Active TSS	Right Ventricle	heart
5	chr1:79470200-79472800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:79470400-79472600	Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:79471000-79472200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:79471000-79472600	Active TSS	HUVEC	blood vessel
9	chr1:79471000-79472800	Active TSS	NH-A	brain
10	chr1:79471200-79472200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:79471200-79472400	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:79471200-79472600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:79471200-79472600	Active TSS	Osteobl	bone
14	chr1:79471200-79472800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:79471600-79472200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:79471600-79472200	Active TSS	Liver	Liver
17	chr1:79471600-79472400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:79471600-79472400	Active TSS	Fetal Muscle Leg	muscle
19	chr1:79471600-79472800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:79471600-79472800	Active TSS	NHDF-Ad	bronchial
21	chr1:79471600-79473000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:79471600-79473000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:79471800-79472200	Active TSS	Brain Angular Gyrus	brain
24	chr1:79471800-79472200	Active TSS	Placenta	Placenta
25	chr1:79471800-79472200	Active TSS	Lung	lung
26	chr1:79471800-79472400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:79471800-79472400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:79471800-79472400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr1:79471800-79472400	Active TSS	Fetal Kidney	kidney
30	chr1:79471800-79472400	Bivalent/Poised TSS	Left Ventricle	heart
31	chr1:79471800-79472400	Active TSS	Ovary	ovary
32	chr1:79471800-79472600	Active TSS	HSMMtube	muscle
33	chr1:79471800-79472800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:79471800-79472800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:79471800-79472800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr1:79471800-79472800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:79471800-79472800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:79471800-79472800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:79471800-79472800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:79471800-79472800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr1:79471800-79472800	Active TSS	Fetal Muscle Trunk	muscle
42	chr1:79471800-79472800	Active TSS	Fetal Stomach	stomach
43	chr1:79471800-79472800	Active TSS	HSMM	muscle
44	chr1:79471800-79473000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:79471800-79473000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:79471800-79473000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:79471800-79473000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:79471800-79473000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:79471800-79473200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:79472000-79472200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links