Variant report

Variant	rs327077
Chromosome Location	chr4:187590467-187590468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187589219..187591473-chr4:187596376..187599328,2	MCF-7	breast:
2	chr4:187590133..187593281-chr4:187645250..187648051,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs162063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs167854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs192997	0.93[EUR][1000 genomes]
rs28532777	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327111	0.84[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs456000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs462509	0.91[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1015619	chr4:187442453-187595058	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1023800	chr4:187444255-187593799	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv881509	chr4:187574398-187614434	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187573000-187605400	Weak transcription	Gastric	stomach
2	chr4:187573200-187596600	Weak transcription	Esophagus	oesophagus
3	chr4:187573400-187590600	Weak transcription	Right Atrium	heart
4	chr4:187574400-187591600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:187579600-187590600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:187579600-187590600	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:187579600-187595400	Weak transcription	Brain Substantia Nigra	brain
8	chr4:187580400-187590600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:187582800-187590600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:187583000-187614400	Weak transcription	Colonic Mucosa	Colon
11	chr4:187583200-187590600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:187583200-187591000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:187583400-187591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:187587400-187591600	Genic enhancers	HSMM	muscle
15	chr4:187587400-187591600	Enhancers	HSMMtube	muscle
16	chr4:187587600-187591000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:187587600-187610200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:187587800-187597000	Weak transcription	Fetal Kidney	kidney
19	chr4:187588000-187590800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:187588000-187594200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:187588200-187590600	Strong transcription	Fetal Intestine Small	intestine
22	chr4:187588400-187590800	Weak transcription	Liver	Liver
23	chr4:187588400-187590800	Genic enhancers	A549	lung
24	chr4:187588400-187597800	Weak transcription	Stomach Mucosa	stomach
25	chr4:187588400-187604400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:187588600-187590600	Strong transcription	HepG2	liver
27	chr4:187589000-187590600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:187589000-187590600	Strong transcription	Fetal Intestine Large	intestine
29	chr4:187589800-187590600	Genic enhancers	NHDF-Ad	bronchial
30	chr4:187590000-187591000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:187590000-187591200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:187590000-187591200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr4:187590200-187590600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr4:187590200-187590600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:187590200-187590600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:187590200-187590600	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr4:187590200-187590800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:187590200-187591000	Active TSS	Brain Anterior Caudate	brain
39	chr4:187590200-187591200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:187590200-187591200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr4:187590200-187591200	Enhancers	Fetal Heart	heart
42	chr4:187590200-187591200	Enhancers	Left Ventricle	heart
43	chr4:187590200-187591200	Enhancers	Pancreas	Pancrea
44	chr4:187590200-187591400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:187590200-187591400	Enhancers	Stomach Smooth Muscle	stomach
46	chr4:187590200-187591400	Genic enhancers	NH-A	brain
47	chr4:187590200-187592000	Enhancers	Colon Smooth Muscle	Colon
48	chr4:187590200-187592200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr4:187590200-187592200	Genic enhancers	HMEC	breast
50	chr4:187590200-187592400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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