Variant report

Variant	rs4731386
Chromosome Location	chr7:127565818-127565819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127558856..127562059-chr7:127564451..127566410,3	MCF-7	breast:
2	chr7:127563851..127566586-chr7:127576141..127579014,2	K562	blood:
3	chr7:127559501..127561927-chr7:127564364..127566896,2	MCF-7	breast:
4	chr7:127560028..127563725-chr7:127565459..127568512,4	K562	blood:
5	chr7:127565086..127568468-chr7:127575719..127577641,3	K562	blood:

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

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

rs_ID	r²[population]
rs11768841	0.81[ASN][1000 genomes]
rs1193336	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1345509	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419968	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17732677	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35774036	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3779526	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808061	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3808077	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808078	0.83[ASN][1000 genomes]
rs3808082	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823995	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62481447	0.84[ASN][1000 genomes]
rs62481450	0.84[ASN][1000 genomes]
rs6973092	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9791922	0.82[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
4	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
7	chr7:127545000-127569200	Weak transcription	Thymus	Thymus
8	chr7:127545000-127569200	Weak transcription	HSMMtube	muscle
9	chr7:127545800-127569200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:127546000-127566800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:127546200-127569200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:127546400-127567400	Weak transcription	NHDF-Ad	bronchial
13	chr7:127546400-127569200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:127546400-127569200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:127546400-127569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:127546400-127569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:127546400-127569200	Weak transcription	Placenta	Placenta
18	chr7:127546400-127569200	Weak transcription	Dnd41	blood
19	chr7:127546800-127569000	Weak transcription	Fetal Thymus	thymus
20	chr7:127546800-127569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:127546800-127569200	Weak transcription	Aorta	Aorta
22	chr7:127546800-127569200	Weak transcription	Lung	lung
23	chr7:127547400-127567000	Weak transcription	Liver	Liver
24	chr7:127547800-127569200	Weak transcription	Primary T cells from cord blood	blood
25	chr7:127547800-127569600	Weak transcription	A549	lung
26	chr7:127548000-127567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:127549200-127567600	Weak transcription	NH-A	brain
28	chr7:127549800-127567400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:127550000-127568000	Weak transcription	NHEK	skin
30	chr7:127551200-127569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:127551400-127566800	Weak transcription	Small Intestine	intestine
32	chr7:127551400-127569200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:127551400-127569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:127551600-127569200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:127552400-127569200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:127553400-127567400	Weak transcription	Primary B cells from cord blood	blood
37	chr7:127553400-127569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:127553600-127567000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:127553600-127567600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:127553800-127569400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:127554000-127567000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:127554800-127567200	Weak transcription	Fetal Stomach	stomach
43	chr7:127554800-127569000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:127555200-127567000	Weak transcription	Fetal Intestine Large	intestine
45	chr7:127555200-127569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:127555400-127569200	Weak transcription	HepG2	liver
47	chr7:127557200-127569200	Weak transcription	Psoas Muscle	Psoas
48	chr7:127558000-127567000	Weak transcription	Fetal Intestine Small	intestine
49	chr7:127558000-127569600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:127558400-127567400	Weak transcription	K562	blood

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