Variant report

Variant	rs17201046
Chromosome Location	chr6:31699573-31699574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31699509-31699783	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31695670-31699628	K562	blood:	n/a	n/a
3	POLR2A	chr6:31696886-31700880	HepG2	liver:	n/a	n/a
4	HEY1	chr6:31699334-31700146	K562	blood:	n/a	n/a
5	POLR2A	chr6:31699248-31699719	GM12878	blood:	n/a	n/a
6	PML	chr6:31699219-31700254	K562	blood:	n/a	n/a
7	POLR2A	chr6:31699136-31700193	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:31699369-31700193	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:31696417-31700658	K562	blood:	n/a	n/a
10	PML	chr6:31696509-31700235	K562	blood:	n/a	n/a
11	HEY1	chr6:31699296-31700019	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:31699322-31700128	K562	blood:	n/a	n/a
13	POLR2A	chr6:31699324-31700264	K562	blood:	n/a	n/a
14	POLR2A	chr6:31699326-31700559	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr6:31699403-31700148	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr6:31693313-31700670	K562	blood:	n/a	n/a
17	POLR2A	chr6:31696661-31700576	K562	blood:	n/a	n/a
18	HEY1	chr6:31699105-31699683	K562	blood:	n/a	n/a
19	POLR2A	chr6:31699193-31699708	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr6:31699204-31699579	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr6:31694501-31700696	K562	blood:	n/a	n/a
22	POLR2A	chr6:31696611-31700440	K562	blood:	n/a	n/a
23	POLR2A	chr6:31699550-31700153	GM12892	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31694918..31699964-chr6:31826467..31832957,9	K562	blood:
2	chr6:31657436..31659534-chr6:31697774..31699736,2	MCF-7	breast:
3	chr6:31506561..31512642-chr6:31697539..31702106,5	K562	blood:
4	chr6:31632206..31634072-chr6:31697899..31700595,2	MCF-7	breast:
5	chr6:31646338..31652560-chr6:31697885..31704222,10	MCF-7	breast:
6	chr6:31659766..31662541-chr6:31697639..31700232,2	MCF-7	breast:
7	chr6:31697087..31699964-chr6:31831308..31832957,3	K562	blood:
8	chr6:31696408..31700150-chr6:31800226..31805691,5	MCF-7	breast:
9	chr6:31697326..31699677-chr6:31802341..31805046,2	MCF-7	breast:
10	chr6:31647431..31650863-chr6:31697294..31699656,3	MCF-7	breast:
11	chr6:31698357..31701391-chr6:31793671..31797057,3	MCF-7	breast:
12	chr6:31697890..31700450-chr6:31939330..31941948,2	K562	blood:

No data

Variant related genes	Relation type
DDAH2	TF binding region
ENSG00000204387	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000198563	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17201466	1.00[AFR][1000 genomes]
rs41267066	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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 miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised 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	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31698200-31699600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:31698200-31699800	Weak transcription	Pancreas	Pancrea
3	chr6:31698200-31701000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:31698200-31701400	Strong transcription	Lung	lung
5	chr6:31698400-31699800	Weak transcription	Aorta	Aorta
6	chr6:31698400-31699800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:31698400-31700200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:31698400-31700200	Genic enhancers	Liver	Liver
9	chr6:31698400-31700400	Genic enhancers	Muscle Satellite Cultured Cells	--
10	chr6:31698400-31701200	Genic enhancers	HepG2	liver
11	chr6:31698400-31701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:31698400-31701400	Strong transcription	Dnd41	blood
13	chr6:31698400-31701600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:31698400-31701600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:31698400-31701600	Genic enhancers	Fetal Intestine Large	intestine
16	chr6:31698400-31701600	Genic enhancers	Fetal Intestine Small	intestine
17	chr6:31698400-31701600	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr6:31698400-31701600	Weak transcription	Right Atrium	heart
19	chr6:31698400-31701600	Strong transcription	Right Ventricle	heart
20	chr6:31698400-31701600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:31698400-31702000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:31698400-31702000	Genic enhancers	Primary monocytes fromperipheralblood	blood
23	chr6:31698400-31702000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:31698400-31702000	Weak transcription	Brain Substantia Nigra	brain
25	chr6:31698400-31702000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:31698400-31702200	Weak transcription	Psoas Muscle	Psoas
27	chr6:31698600-31699600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr6:31698600-31699600	Strong transcription	NHEK	skin
29	chr6:31698600-31699800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:31698600-31699800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:31698600-31699800	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:31698600-31700000	Genic enhancers	NH-A	brain
33	chr6:31698600-31700200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:31698600-31700200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:31698600-31700200	Genic enhancers	NHDF-Ad	bronchial
36	chr6:31698600-31701000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr6:31698600-31701000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:31698600-31701000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:31698600-31701200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:31698600-31701200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:31698600-31701200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:31698600-31701200	Strong transcription	Colonic Mucosa	Colon
43	chr6:31698600-31701200	Strong transcription	Fetal Thymus	thymus
44	chr6:31698600-31701200	Strong transcription	GM12878-XiMat	blood
45	chr6:31698600-31701400	Strong transcription	Esophagus	oesophagus
46	chr6:31698600-31701600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:31698600-31701600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:31698600-31701600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:31698600-31701600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:31698600-31701600	Strong transcription	Gastric	stomach

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