Variant report

Variant	rs2195345
Chromosome Location	chr5:16768747-16768748
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11740240	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11750538	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1560089	0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap]
rs3736148	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4702171	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4702172	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs7703315	0.94[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs890910	0.82[CHD][hapmap];0.95[GIH][hapmap]
rs9791093	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
2	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:16741200-16782000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:16742400-16773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:16743600-16777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:16744800-16776800	Weak transcription	Left Ventricle	heart
7	chr5:16746000-16778200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:16748600-16783800	Weak transcription	Small Intestine	intestine
9	chr5:16749200-16770200	Strong transcription	HSMMtube	muscle
10	chr5:16752800-16770200	Strong transcription	Fetal Muscle Leg	muscle
11	chr5:16754800-16771000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:16754800-16771400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:16755000-16775000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:16755200-16771000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:16755200-16776400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:16755200-16795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:16755800-16771200	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr5:16756200-16770600	Strong transcription	Fetal Stomach	stomach
19	chr5:16757000-16770000	Weak transcription	Liver	Liver
20	chr5:16757600-16796800	Weak transcription	Right Ventricle	heart
21	chr5:16758000-16771000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:16758400-16779200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:16758800-16771400	Strong transcription	Fetal Intestine Small	intestine
24	chr5:16759800-16774200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:16759800-16783600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:16760000-16791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:16760200-16776800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:16760600-16774200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:16760800-16770200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:16761000-16796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:16762400-16770400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:16762400-16784000	Weak transcription	Colonic Mucosa	Colon
33	chr5:16762800-16774000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:16762800-16774200	Weak transcription	NHDF-Ad	bronchial
35	chr5:16763000-16776600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:16763200-16774000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:16763200-16782200	Weak transcription	Fetal Brain Male	brain
38	chr5:16763800-16794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:16764200-16784000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:16764600-16769800	Weak transcription	Hela-S3	cervix
41	chr5:16764600-16777400	Weak transcription	Aorta	Aorta
42	chr5:16764600-16783800	Weak transcription	Spleen	Spleen
43	chr5:16764600-16792800	Weak transcription	Stomach Mucosa	stomach
44	chr5:16764600-16807400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:16764800-16772600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:16764800-16774000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:16765600-16769000	Weak transcription	Pancreas	Pancrea
48	chr5:16765600-16770000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr5:16766000-16774000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:16766200-16770800	Strong transcription	Placenta	Placenta

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