Variant report

Variant	rs9799408
Chromosome Location	chr4:57234875-57234876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12503885	0.95[ASN][1000 genomes]
rs12505749	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1520025	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs17086758	0.82[CHB][hapmap];0.95[ASN][1000 genomes]
rs4260596	1.00[CHB][hapmap]
rs4865086	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60972582	0.85[ASN][1000 genomes]
rs6834384	0.92[ASN][1000 genomes]
rs6843073	0.83[ASN][1000 genomes]
rs7435941	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7693436	1.00[CHB][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription 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 target site	88 gene(s)	inside rSNPs	diseases
6	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57190600-57252400	Weak transcription	Colonic Mucosa	Colon
2	chr4:57195200-57238000	Weak transcription	HUVEC	blood vessel
3	chr4:57196000-57238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:57202800-57252400	Weak transcription	NHDF-Ad	bronchial
5	chr4:57203000-57252600	Weak transcription	Right Ventricle	heart
6	chr4:57203200-57235200	Weak transcription	Osteobl	bone
7	chr4:57203200-57251800	Weak transcription	A549	lung
8	chr4:57203400-57252400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:57204000-57252200	Weak transcription	NH-A	brain
10	chr4:57204200-57252200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:57204800-57235400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:57204800-57251800	Weak transcription	Fetal Brain Male	brain
13	chr4:57207800-57253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:57211000-57251600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:57211800-57252200	Weak transcription	Fetal Heart	heart
16	chr4:57212400-57251800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:57213000-57244200	Weak transcription	Spleen	Spleen
18	chr4:57213400-57251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:57213400-57252200	Weak transcription	NHLF	lung
20	chr4:57213600-57250200	Weak transcription	K562	blood
21	chr4:57213600-57252000	Weak transcription	HMEC	breast
22	chr4:57214400-57251800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:57214600-57252200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:57215000-57238000	Weak transcription	Brain Substantia Nigra	brain
25	chr4:57215800-57251600	Weak transcription	Brain Anterior Caudate	brain
26	chr4:57216000-57235800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:57216000-57236400	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:57216000-57241200	Weak transcription	Pancreas	Pancrea
29	chr4:57216000-57251800	Weak transcription	HepG2	liver
30	chr4:57216000-57252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:57216000-57253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:57216200-57245600	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:57216200-57246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:57216200-57246200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:57216400-57251800	Weak transcription	Psoas Muscle	Psoas
36	chr4:57218400-57239000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:57218400-57241200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:57219000-57235200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:57219400-57235800	Weak transcription	Left Ventricle	heart
40	chr4:57219400-57236000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:57219800-57235200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:57219800-57236400	Weak transcription	Primary T cells from cord blood	blood
43	chr4:57220400-57235200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:57220400-57235400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:57220400-57236000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:57220600-57243400	Weak transcription	HSMM	muscle
47	chr4:57221800-57236000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:57222800-57235200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:57222800-57235800	Weak transcription	Fetal Brain Female	brain
50	chr4:57223000-57235000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links