Variant report

Variant	rs17191186
Chromosome Location	chr20:13759392-13759393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:13759155..13761674-chr20:13763865..13765674,3	MCF-7	breast:
2	chr20:13757853..13760208-chr20:13761731..13763400,2	MCF-7	breast:
3	chr20:13759298..13762711-chr20:13763805..13767036,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089048	Chromatin interaction
ENSG00000101247	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2064644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6131521	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6131532	0.81[CHB][hapmap]
rs6131537	0.90[CHB][hapmap]
rs6135005	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13694600-13764400	Weak transcription	Stomach Mucosa	stomach
2	chr20:13734000-13763200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr20:13736800-13763800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:13741800-13763200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr20:13741800-13763800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:13742000-13762600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr20:13742200-13763600	Strong transcription	Liver	Liver
8	chr20:13742400-13763800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr20:13743800-13763600	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr20:13744400-13763200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr20:13747200-13759400	Strong transcription	HepG2	liver
12	chr20:13747200-13764000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr20:13747600-13764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr20:13747800-13763800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr20:13748000-13763200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr20:13748000-13763800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr20:13748400-13764000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr20:13748600-13763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr20:13748800-13763800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:13748800-13764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr20:13749000-13760600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr20:13749000-13764000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:13749000-13764200	Weak transcription	Aorta	Aorta
24	chr20:13749000-13764200	Weak transcription	Colonic Mucosa	Colon
25	chr20:13749000-13765200	Weak transcription	Small Intestine	intestine
26	chr20:13749200-13764200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:13749200-13764200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:13749800-13764000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr20:13750200-13760400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr20:13750400-13760600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:13750400-13764200	Weak transcription	Pancreas	Pancrea
32	chr20:13750400-13764200	Weak transcription	Spleen	Spleen
33	chr20:13750600-13764200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr20:13750600-13764200	Weak transcription	Thymus	Thymus
35	chr20:13750600-13765000	Weak transcription	Gastric	stomach
36	chr20:13751200-13760200	Weak transcription	Lung	lung
37	chr20:13751200-13765000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:13751400-13759400	Weak transcription	Fetal Intestine Small	intestine
39	chr20:13751400-13760600	Weak transcription	Left Ventricle	heart
40	chr20:13751400-13761800	Weak transcription	Fetal Stomach	stomach
41	chr20:13751400-13764200	Weak transcription	Esophagus	oesophagus
42	chr20:13751600-13764000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr20:13751800-13764400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr20:13752400-13764200	Weak transcription	Colon Smooth Muscle	Colon
45	chr20:13753400-13760600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr20:13753800-13762600	Strong transcription	Placenta	Placenta
47	chr20:13755200-13759600	Strong transcription	Primary B cells from cord blood	blood
48	chr20:13756200-13764000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr20:13756200-13764200	Weak transcription	Hela-S3	cervix
50	chr20:13756400-13759400	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links