Variant report

Variant	rs8071832
Chromosome Location	chr17:45731744-45731745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45731615-45731773	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:45729030-45736507	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr17:45731537-45734456	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr17:45731645-45733127	PFSK-1	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45729511..45731867-chr17:45908734..45910627,2	MCF-7	breast:
2	chr17:45730053..45732033-chr17:45770907..45773039,2	K562	blood:
3	chr17:45726598..45732836-chr17:45743871..45749720,11	K562	blood:
4	chr17:45731399..45733307-chr17:45733395..45735702,2	MCF-7	breast:
5	chr17:45729521..45732354-chr17:45842842..45844447,2	MCF-7	breast:
6	chr17:45730303..45731847-chr17:45769244..45772062,2	K562	blood:
7	chr17:45731312..45732928-chr17:45751109..45752660,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263766	TF binding region
KPNB1	TF binding region
ENSG00000198933	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000159111	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11079780	0.81[ASN][1000 genomes]
rs1136613	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1136614	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942128	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16958421	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16969984	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56767960	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57517565	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59583855	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59866241	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59911216	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61419652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789082	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr17:45728400-45732200	Weak transcription	Pancreas	Pancrea
2	chr17:45728600-45732600	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr17:45728600-45732800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:45728600-45734000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:45728600-45735200	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr17:45728800-45732000	Weak transcription	Right Atrium	heart
7	chr17:45728800-45732200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:45728800-45732200	Weak transcription	Gastric	stomach
9	chr17:45728800-45732600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:45728800-45732800	Genic enhancers	Primary T cells from cord blood	blood
11	chr17:45728800-45732800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr17:45728800-45732800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr17:45728800-45733600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:45728800-45742400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr17:45728800-45744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:45728800-45762800	Strong transcription	Fetal Stomach	stomach
17	chr17:45728800-45765600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr17:45729000-45732800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr17:45729000-45733000	Genic enhancers	Osteobl	bone
20	chr17:45729000-45733200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:45729000-45743400	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr17:45729200-45732200	Genic enhancers	Muscle Satellite Cultured Cells	--
23	chr17:45729200-45732200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr17:45729200-45733000	Genic enhancers	HepG2	liver
25	chr17:45729200-45733200	Genic enhancers	NHEK	skin
26	chr17:45729200-45734000	Genic enhancers	Liver	Liver
27	chr17:45729200-45736600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:45729200-45736800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr17:45729200-45760400	Strong transcription	Fetal Muscle Leg	muscle
30	chr17:45729200-45760600	Strong transcription	Fetal Brain Female	brain
31	chr17:45729200-45763800	Strong transcription	Placenta	Placenta
32	chr17:45729400-45732000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:45729400-45732000	Strong transcription	Adipose Nuclei	Adipose
34	chr17:45729400-45732400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:45729400-45732800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:45729400-45733200	Genic enhancers	HMEC	breast
37	chr17:45729400-45736400	Strong transcription	Colonic Mucosa	Colon
38	chr17:45729400-45737400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr17:45729400-45741800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr17:45729600-45732000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:45729600-45732000	Strong transcription	Brain Anterior Caudate	brain
42	chr17:45729600-45732000	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr17:45729600-45732200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr17:45729600-45732200	Strong transcription	Rectal Smooth Muscle	rectum
45	chr17:45729600-45732200	Genic enhancers	NHLF	lung
46	chr17:45729600-45736600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:45729600-45737000	Strong transcription	Thymus	Thymus
48	chr17:45729600-45742200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:45729600-45762600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr17:45729800-45732200	Strong transcription	Brain Germinal Matrix	brain

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