Variant report

Variant	rs9991495
Chromosome Location	chr4:144299563-144299564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr4:144299547-144300083	GM12878	blood:	n/a	n/a
2	NFIC	chr4:144298357-144300121	GM12878	blood:	n/a	n/a
3	CHD2	chr4:144298791-144299720	GM12878	blood:	n/a	n/a
4	RELA	chr4:144298553-144299834	GM12878	blood:	n/a	chr4:144298843-144298852 chr4:144298843-144298852

No.	Distal block	Cell Line	Cell type
1	chr4:144254627..144258395-chr4:144297952..144301828,4	K562	blood:
2	chr4:144292852..144297100-chr4:144298409..144302941,5	K562	blood:
3	chr4:144299400..144301389-chr4:144302183..144304339,2	K562	blood:

Variant related genes	Relation type
GAB1	TF binding region
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10016745	0.90[YRI][hapmap]
rs10017771	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10023724	1.00[CHD][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12331219	0.91[YRI][hapmap]
rs13104755	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13107986	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13116594	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118809	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13127055	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13137712	0.81[AMR][1000 genomes]
rs17017760	0.83[YRI][hapmap]
rs17739332	1.00[ASN][1000 genomes]
rs2229879	1.00[CHD][hapmap]
rs28410377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478042	0.87[AFR][1000 genomes]
rs28743166	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28925878	1.00[ASN][1000 genomes]
rs34234071	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34398038	0.81[AMR][1000 genomes]
rs34583666	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35027946	0.81[AMR][1000 genomes]
rs71610438	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610439	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610440	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610442	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680485	1.00[CHD][hapmap]
rs7695623	1.00[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033347	chr4:144288438-144299563	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:144291000-144299800	Weak transcription	Pancreas	Pancrea
4	chr4:144291800-144302200	Weak transcription	Esophagus	oesophagus
5	chr4:144293200-144299800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:144293200-144302400	Enhancers	Brain Substantia Nigra	brain
7	chr4:144293600-144302000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:144294000-144302200	Weak transcription	Spleen	Spleen
9	chr4:144294000-144302400	Weak transcription	Gastric	stomach
10	chr4:144295000-144302800	Enhancers	Brain Cingulate Gyrus	brain
11	chr4:144295200-144301000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:144295200-144302400	Enhancers	Brain Anterior Caudate	brain
13	chr4:144295400-144299600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:144295400-144300000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:144295400-144300200	Enhancers	Fetal Brain Male	brain
16	chr4:144295400-144301000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr4:144295400-144302000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:144295600-144300400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:144295600-144300800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:144295600-144302400	Enhancers	Rectal Smooth Muscle	rectum
21	chr4:144295600-144303000	Enhancers	Brain Angular Gyrus	brain
22	chr4:144296000-144302200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:144296200-144299800	Weak transcription	Small Intestine	intestine
24	chr4:144296200-144302400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:144296600-144300000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:144296600-144300200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:144296600-144300400	Enhancers	Adipose Nuclei	Adipose
28	chr4:144296600-144300600	Enhancers	Fetal Lung	lung
29	chr4:144296600-144301200	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:144296800-144299600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:144296800-144299800	Weak transcription	Lung	lung
32	chr4:144296800-144304600	Enhancers	Liver	Liver
33	chr4:144297000-144299600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:144297000-144299800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:144297000-144301600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:144297000-144302200	Weak transcription	Stomach Mucosa	stomach
37	chr4:144297000-144302600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:144297200-144299800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:144297200-144299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:144297200-144299800	Enhancers	Colon Smooth Muscle	Colon
41	chr4:144297200-144299800	Weak transcription	Left Ventricle	heart
42	chr4:144297200-144299800	Enhancers	Stomach Smooth Muscle	stomach
43	chr4:144297200-144300000	Weak transcription	HSMMtube	muscle
44	chr4:144297200-144302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:144297200-144302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:144297200-144302200	Weak transcription	HMEC	breast
47	chr4:144297200-144302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:144297200-144302400	Enhancers	Brain Hippocampus Middle	brain
49	chr4:144297200-144302400	Weak transcription	Fetal Thymus	thymus
50	chr4:144297200-144305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links