Variant report

Variant	rs4727518
Chromosome Location	chr7:101675183-101675184
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101673753..101675283-chr7:101675530..101677556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272544	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12668959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12669667	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233554	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243790	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202142	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs4727517	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729768	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729769	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778441	0.81[AFR][1000 genomes]
rs7785458	0.81[AFR][1000 genomes]
rs7809609	0.95[EUR][1000 genomes];0.96[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	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101642400-101675400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:101642800-101697600	Weak transcription	Primary B cells from cord blood	blood
3	chr7:101643000-101675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:101648200-101681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:101648200-101688000	Weak transcription	Ovary	ovary
6	chr7:101652400-101683200	Weak transcription	Right Ventricle	heart
7	chr7:101652800-101688400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:101653000-101688200	Weak transcription	Colonic Mucosa	Colon
9	chr7:101653200-101685200	Weak transcription	HSMMtube	muscle
10	chr7:101656000-101682800	Weak transcription	Psoas Muscle	Psoas
11	chr7:101656000-101689200	Weak transcription	Aorta	Aorta
12	chr7:101656800-101681400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:101657000-101681400	Weak transcription	Osteobl	bone
14	chr7:101657200-101677000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:101664600-101676400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:101665600-101688000	Weak transcription	Brain Angular Gyrus	brain
17	chr7:101666600-101681400	Weak transcription	NHLF	lung
18	chr7:101667200-101688200	Weak transcription	Brain Substantia Nigra	brain
19	chr7:101667600-101675200	Weak transcription	Esophagus	oesophagus
20	chr7:101667600-101676800	Weak transcription	Brain Germinal Matrix	brain
21	chr7:101667600-101685200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:101667600-101685200	Weak transcription	NH-A	brain
23	chr7:101667600-101688000	Weak transcription	Brain Anterior Caudate	brain
24	chr7:101667600-101688000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:101667600-101688200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:101667600-101688400	Weak transcription	Fetal Brain Female	brain
27	chr7:101668000-101707200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:101668200-101682600	Weak transcription	Left Ventricle	heart
29	chr7:101668200-101683200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:101668200-101688000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:101668600-101676800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:101668600-101694200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:101668800-101682600	Weak transcription	Right Atrium	heart
34	chr7:101670400-101676600	Strong transcription	Fetal Intestine Small	intestine
35	chr7:101670400-101681400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:101671200-101675200	Strong transcription	Fetal Intestine Large	intestine
37	chr7:101671200-101675800	Strong transcription	Fetal Stomach	stomach
38	chr7:101671200-101677200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:101671400-101676400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:101671800-101688000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:101671800-101688400	Weak transcription	Fetal Brain Male	brain
42	chr7:101672000-101676800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:101672000-101681200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:101672000-101683000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:101672000-101685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:101672000-101685400	Weak transcription	NHEK	skin
47	chr7:101672000-101688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:101672200-101675200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:101672200-101685200	Weak transcription	A549	lung
50	chr7:101672200-101688000	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links