Variant report

Variant	rs34130316
Chromosome Location	chr17:46191010-46191011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11079811	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11079812	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12449324	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12449529	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12601412	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12948653	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12953085	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1316643	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17619103	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2107308	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34449497	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35371915	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35999311	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62064917	0.81[EUR][1000 genomes]
rs7215582	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7221416	0.83[ASN][1000 genomes]
rs7224648	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8065464	0.86[EUR][1000 genomes]
rs8081209	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv1007058	chr17:46188741-46200367	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46185800-46193000	Weak transcription	Gastric	stomach
2	chr17:46185800-46195800	Weak transcription	Ovary	ovary
3	chr17:46186000-46195200	Weak transcription	Aorta	Aorta
4	chr17:46186000-46196200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr17:46186000-46198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:46186200-46192000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:46186200-46192600	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:46186200-46192600	Weak transcription	A549	lung
9	chr17:46186200-46193800	Weak transcription	Fetal Lung	lung
10	chr17:46186200-46195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:46186200-46195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:46186200-46196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:46186200-46198600	Weak transcription	Fetal Brain Male	brain
14	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr17:46186400-46191800	Weak transcription	Fetal Intestine Large	intestine
16	chr17:46186400-46192200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr17:46186400-46192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:46186400-46193000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:46186400-46193000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:46186400-46193400	Weak transcription	Osteobl	bone
21	chr17:46186400-46193600	Weak transcription	HSMMtube	muscle
22	chr17:46186400-46194800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr17:46186400-46195000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:46186400-46195000	Weak transcription	HSMM	muscle
25	chr17:46186400-46195000	Weak transcription	NHDF-Ad	bronchial
26	chr17:46186400-46195200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr17:46186400-46195400	Weak transcription	Brain Angular Gyrus	brain
28	chr17:46186400-46195400	Weak transcription	NH-A	brain
29	chr17:46186400-46196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr17:46186400-46196000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:46186400-46198600	Weak transcription	Small Intestine	intestine
32	chr17:46186400-46198800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr17:46186600-46192200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:46186600-46192600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:46186600-46195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:46186600-46195200	Weak transcription	Stomach Mucosa	stomach
37	chr17:46186600-46196000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr17:46187600-46191400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr17:46187600-46198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:46188000-46191200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:46188000-46192000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr17:46188000-46192200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:46188000-46192400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:46188000-46192400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:46188200-46191400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr17:46188200-46191400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr17:46188200-46192600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr17:46188200-46195000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr17:46188200-46201200	Strong transcription	Fetal Intestine Small	intestine
50	chr17:46188200-46207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links