Variant report

Variant	rs785371
Chromosome Location	chr5:115647397-115647398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10042163	0.86[MEX][hapmap]
rs10051539	0.83[CEU][hapmap]
rs10055039	0.84[CEU][hapmap];0.93[MEX][hapmap]
rs10072430	0.84[CEU][hapmap]
rs10078121	0.80[MEX][hapmap]
rs10478283	0.84[CEU][hapmap];0.92[MEX][hapmap]
rs10900713	0.84[CEU][hapmap]
rs12055304	0.84[CEU][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs1508874	0.86[MEX][hapmap]
rs173834	0.80[JPT][hapmap]
rs2416431	0.84[CEU][hapmap]
rs254150	0.91[JPT][hapmap]
rs254152	0.81[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs27126	0.84[ASN][1000 genomes]
rs4920906	0.84[CEU][hapmap];0.93[MEX][hapmap]
rs4921066	0.92[CEU][hapmap]
rs6594950	0.84[CEU][hapmap];0.80[MEX][hapmap]
rs6594954	0.84[CEU][hapmap];0.93[MEX][hapmap]
rs6594955	0.84[CEU][hapmap]
rs6877029	0.92[CEU][hapmap];0.93[MEX][hapmap]
rs6878279	0.84[CEU][hapmap]
rs712574	0.88[ASN][1000 genomes]
rs712576	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712577	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs712578	0.80[AMR][1000 genomes]
rs712579	0.88[ASN][1000 genomes]
rs712583	0.80[AMR][1000 genomes]
rs712584	0.80[AMR][1000 genomes]
rs712585	0.80[AMR][1000 genomes]
rs712586	0.80[AMR][1000 genomes]
rs712587	0.80[AMR][1000 genomes]
rs712588	0.88[ASN][1000 genomes]
rs712592	0.88[ASN][1000 genomes]
rs712593	0.88[ASN][1000 genomes]
rs712594	0.88[ASN][1000 genomes]
rs712595	0.88[ASN][1000 genomes]
rs712596	0.88[ASN][1000 genomes]
rs712597	0.88[ASN][1000 genomes]
rs712598	0.88[ASN][1000 genomes]
rs712599	0.88[ASN][1000 genomes]
rs712600	0.88[ASN][1000 genomes]
rs7704903	0.84[CEU][hapmap];0.86[MEX][hapmap]
rs785367	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs785369	0.88[ASN][1000 genomes]
rs785370	0.88[ASN][1000 genomes]
rs785372	0.80[AMR][1000 genomes]
rs785374	0.88[ASN][1000 genomes]
rs9326993	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1018001	chr5:115640603-115660285	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:115639600-115647400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:115640800-115658200	Weak transcription	Colonic Mucosa	Colon
4	chr5:115641000-115653000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:115641400-115651800	Weak transcription	Esophagus	oesophagus
6	chr5:115642000-115654200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:115642400-115653000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:115642600-115654400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:115642800-115650800	Weak transcription	A549	lung
10	chr5:115642800-115655800	Weak transcription	Fetal Thymus	thymus
11	chr5:115643000-115648200	Weak transcription	Fetal Stomach	stomach
12	chr5:115643000-115653000	Weak transcription	Right Ventricle	heart
13	chr5:115643000-115656800	Weak transcription	Gastric	stomach
14	chr5:115643200-115650200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:115643200-115660200	Weak transcription	Placenta	Placenta
16	chr5:115643200-115664200	Weak transcription	Thymus	Thymus
17	chr5:115643200-115664800	Weak transcription	Pancreas	Pancrea
18	chr5:115643200-115669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:115644000-115649000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:115644000-115649000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:115644000-115658600	Weak transcription	HSMM	muscle
22	chr5:115644200-115653200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:115644200-115655800	Weak transcription	HUVEC	blood vessel
24	chr5:115644400-115653000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:115644400-115653200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:115644400-115654200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:115644400-115664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:115644400-115671800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:115645000-115651200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:115645000-115653000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:115645200-115653000	Weak transcription	Lung	lung
32	chr5:115645200-115653000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:115645400-115649800	Weak transcription	Aorta	Aorta
34	chr5:115645400-115650000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:115645400-115650200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:115645600-115648800	Weak transcription	Adipose Nuclei	Adipose
37	chr5:115645600-115648800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:115645600-115649200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:115645600-115650000	Weak transcription	Primary B cells from cord blood	blood
40	chr5:115645600-115650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:115645600-115651800	Weak transcription	Left Ventricle	heart
42	chr5:115645600-115652600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:115645600-115653400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:115646000-115653000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:115646400-115653200	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:115646400-115656000	Weak transcription	Fetal Kidney	kidney
47	chr5:115646600-115651800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:115647000-115648400	Weak transcription	Primary T cells from cord blood	blood
49	chr5:115647000-115653000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:115647200-115647400	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links