Variant report

Variant	rs12985291
Chromosome Location	chr19:56599840-56599841
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41464187..41466335-chr19:56598175..56601155,2	K562	blood:
2	chr17:41464708..41466373-chr19:56599655..56601155,2	MCF-7	breast:
3	chr19:56599644..56602994-chr19:56620278..56624249,5	K562	blood:
4	chr19:56597558..56600385-chr19:56629038..56634094,5	K562	blood:
5	chr19:56598614..56600130-chr19:56616927..56618591,2	MCF-7	breast:
6	chr17:41465604..41466260-chr19:56599675..56600175,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction
ENSG00000142409	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17713875	1.00[CHB][hapmap]
rs7247303	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1062406	chr19:56382492-56602374	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1058988	chr19:56382492-56609032	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
10	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv912512	chr19:56592286-56636759	Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
14	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	nsv912514	chr19:56596815-56636759	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	esv3338193	chr19:56598165-56601513	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
17	esv3409501	chr19:56598390-56601188	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
18	nsv912515	chr19:56598829-56623710	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592600-56600000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:56592600-56600000	Weak transcription	Hela-S3	cervix
3	chr19:56592600-56620000	Weak transcription	HSMMtube	muscle
4	chr19:56592800-56600000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr19:56592800-56600000	Weak transcription	Dnd41	blood
6	chr19:56592800-56601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:56592800-56602200	Weak transcription	NH-A	brain
8	chr19:56592800-56602400	Weak transcription	Brain Anterior Caudate	brain
9	chr19:56592800-56602800	Weak transcription	Right Atrium	heart
10	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:56593000-56600000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:56593000-56600000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:56593000-56600000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:56593000-56600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:56593000-56600000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:56593000-56600400	Weak transcription	HepG2	liver
17	chr19:56593000-56600400	Weak transcription	NHDF-Ad	bronchial
18	chr19:56593000-56600600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:56593000-56601000	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:56593000-56601600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:56593000-56602200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:56593000-56602200	Weak transcription	Brain Substantia Nigra	brain
23	chr19:56593000-56602400	Weak transcription	Osteobl	bone
24	chr19:56593000-56606400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr19:56593000-56616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:56593000-56616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:56593000-56616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:56593200-56600800	Weak transcription	Primary B cells from cord blood	blood
30	chr19:56593200-56600800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr19:56593600-56616000	Weak transcription	Stomach Mucosa	stomach
32	chr19:56593800-56600400	Weak transcription	Fetal Brain Female	brain
33	chr19:56594200-56600000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr19:56594800-56616800	Weak transcription	HUVEC	blood vessel
35	chr19:56595200-56601000	Weak transcription	K562	blood
36	chr19:56595400-56600000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:56595400-56600600	Weak transcription	NHEK	skin
38	chr19:56595400-56601200	Weak transcription	HSMM	muscle
39	chr19:56596000-56601800	Genic enhancers	Spleen	Spleen
40	chr19:56596200-56600000	Strong transcription	Thymus	Thymus
41	chr19:56596200-56603400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:56596400-56605400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:56596600-56600800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:56596600-56601000	Strong transcription	Pancreas	Pancrea
45	chr19:56596600-56601800	Strong transcription	Lung	lung
46	chr19:56596600-56601800	Strong transcription	NHLF	lung
47	chr19:56596600-56602800	Strong transcription	Fetal Stomach	stomach
48	chr19:56596600-56603600	Strong transcription	Fetal Intestine Small	intestine
49	chr19:56596600-56604000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:56596600-56604200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links