Variant report

Variant	rs17101871
Chromosome Location	chr14:104306438-104306439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11623518	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11625216	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11625521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11625613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs11625676	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11626714	0.81[EUR][1000 genomes]
rs11627337	0.91[EUR][1000 genomes]
rs11851462	0.85[EUR][1000 genomes]
rs12432763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12435668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12436297	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45604035	0.95[EUR][1000 genomes]
rs4641668	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs56971743	0.93[EUR][1000 genomes]
rs57560950	0.93[EUR][1000 genomes]
rs57952067	0.83[EUR][1000 genomes]
rs58369398	0.93[EUR][1000 genomes]
rs58411502	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59320483	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60431526	0.83[EUR][1000 genomes]
rs730114	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73350555	0.86[EUR][1000 genomes]
rs73350563	0.81[EUR][1000 genomes]
rs73367074	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8006493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016928	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	nsv902320	chr14:104274294-104308095	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104292000-104312400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:104292800-104309000	Weak transcription	Fetal Intestine Small	intestine
3	chr14:104295200-104309000	Weak transcription	Fetal Stomach	stomach
4	chr14:104295200-104311600	Weak transcription	Liver	Liver
5	chr14:104295200-104312200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:104295200-104312400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:104295200-104312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:104295200-104312600	Weak transcription	Small Intestine	intestine
9	chr14:104299000-104312200	Weak transcription	Hela-S3	cervix
10	chr14:104300400-104310400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:104303000-104310800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:104303800-104312400	Weak transcription	Adipose Nuclei	Adipose
13	chr14:104304000-104308800	Weak transcription	Right Atrium	heart
14	chr14:104304000-104309000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:104304000-104309000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:104304000-104310200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:104304000-104311600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:104304000-104312200	Weak transcription	Right Ventricle	heart
19	chr14:104304000-104312400	Weak transcription	Lung	lung
20	chr14:104304000-104312800	Weak transcription	Esophagus	oesophagus
21	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
22	chr14:104305400-104310600	Weak transcription	HepG2	liver
23	chr14:104305400-104312800	Weak transcription	Gastric	stomach
24	chr14:104305600-104307800	Enhancers	Left Ventricle	heart
25	chr14:104305800-104306600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:104305800-104306600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:104305800-104307200	Enhancers	Fetal Heart	heart
28	chr14:104306000-104306600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:104306000-104306800	Enhancers	Brain Hippocampus Middle	brain
30	chr14:104306000-104306800	Enhancers	Fetal Kidney	kidney
31	chr14:104306000-104306800	Enhancers	Fetal Lung	lung
32	chr14:104306000-104306800	Enhancers	NHEK	skin
33	chr14:104306000-104307200	Enhancers	Fetal Brain Male	brain
34	chr14:104306200-104307200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:104306200-104309600	Weak transcription	Fetal Intestine Large	intestine
36	chr14:104306200-104310400	Weak transcription	Pancreas	Pancrea
37	chr14:104306200-104312400	Weak transcription	Ovary	ovary
38	chr14:104306200-104312400	Weak transcription	Psoas Muscle	Psoas
39	chr14:104306400-104306600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:104306400-104306800	Enhancers	Brain Angular Gyrus	brain
41	chr14:104306400-104306800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:104306400-104306800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr14:104306400-104312200	Weak transcription	HMEC	breast

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