Variant report

Variant	rs8079982
Chromosome Location	chr17:46127756-46127757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PRDM1	chr17:46127748-46128066	Hela-S3	cervix:	n/a	chr17:46127848-46127863
2	POLR2A	chr17:46127714-46128945	IMR90	lung:	n/a	n/a
3	POLR2A	chr17:46127693-46128571	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr17:46123986-46128643	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr17:46127698-46127790	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:46127640-46130485	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46070951..46073524-chr17:46127134..46129292,2	K562	blood:
2	chr17:46125014..46129511-chr17:46182877..46189561,8	K562	blood:
3	chr17:46126873..46129547-chr17:46183603..46186310,2	MCF-7	breast:
4	chr17:46124025..46127922-chr17:46176725..46180326,7	MCF-7	breast:
5	chr17:46127435..46129625-chr17:46209916..46212813,2	MCF-7	breast:
6	chr17:46123538..46128867-chr17:46183649..46187295,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263412	TF binding region
NFE2L1	TF binding region
ENSG00000002919	Chromatin interaction
ENSG00000108468	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10853093	0.81[EUR][1000 genomes]
rs11870317	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28439030	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4794426	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794427	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216766	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066529	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8182234	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9905460	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46124200-46128000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:46124200-46128400	Active TSS	HSMMtube	muscle
3	chr17:46124400-46127800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:46124400-46128200	Active TSS	Left Ventricle	heart
5	chr17:46124400-46132200	Active TSS	Psoas Muscle	Psoas
6	chr17:46124600-46127800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:46124600-46128000	Active TSS	Fetal Kidney	kidney
8	chr17:46124600-46129600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr17:46124800-46127800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:46124800-46127800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:46124800-46127800	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr17:46124800-46127800	Active TSS	NHDF-Ad	bronchial
13	chr17:46125200-46127800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:46126000-46128200	Active TSS	Right Atrium	heart
15	chr17:46126200-46128000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr17:46126400-46127800	Flanking Active TSS	Dnd41	blood
17	chr17:46126400-46128000	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr17:46126400-46128400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:46126600-46127800	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr17:46126600-46128200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr17:46126800-46127800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:46126800-46128000	Weak transcription	Esophagus	oesophagus
23	chr17:46126800-46128000	Enhancers	Fetal Brain Male	brain
24	chr17:46126800-46128000	Weak transcription	Gastric	stomach
25	chr17:46126800-46128000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr17:46126800-46128200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:46126800-46128200	Enhancers	Stomach Mucosa	stomach
28	chr17:46126800-46128400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr17:46126800-46128400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr17:46126800-46128600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:46126800-46131200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:46127000-46127800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr17:46127000-46127800	Enhancers	Fetal Intestine Large	intestine
34	chr17:46127000-46127800	Enhancers	Placenta	Placenta
35	chr17:46127000-46128000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr17:46127000-46128000	Enhancers	Primary B cells from peripheral blood	blood
37	chr17:46127000-46128000	Weak transcription	Small Intestine	intestine
38	chr17:46127000-46128000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr17:46127000-46128000	Weak transcription	Spleen	Spleen
40	chr17:46127000-46128200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:46127000-46128200	Flanking Active TSS	Osteobl	bone
42	chr17:46127200-46127800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:46127200-46127800	Enhancers	Primary T cells from cord blood	blood
44	chr17:46127200-46127800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr17:46127200-46127800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr17:46127200-46127800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr17:46127200-46127800	Flanking Active TSS	HepG2	liver
48	chr17:46127200-46128000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:46127200-46128000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr17:46127200-46128000	Enhancers	Primary T helper cells fromperipheralblood	blood

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