Variant report

Variant	rs9685493
Chromosome Location	chr4:124524312-124524313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1425422	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124518200-124524600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:124519400-124525200	Enhancers	Fetal Intestine Large	intestine
3	chr4:124519600-124525200	Enhancers	Fetal Intestine Small	intestine
4	chr4:124521600-124524400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:124521600-124524400	Weak transcription	Pancreas	Pancrea
6	chr4:124521800-124524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:124522000-124528000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:124522000-124528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:124522200-124524600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:124522400-124527600	Weak transcription	NHDF-Ad	bronchial
11	chr4:124522600-124525000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:124522600-124527600	Weak transcription	Adipose Nuclei	Adipose
13	chr4:124522800-124525600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:124522800-124527400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:124522800-124527600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:124523000-124524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:124523000-124524400	Weak transcription	HepG2	liver
18	chr4:124523200-124524400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr4:124523400-124525400	Enhancers	Fetal Thymus	thymus
20	chr4:124523600-124524600	Enhancers	Primary T cells from cord blood	blood
21	chr4:124523600-124524600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:124523600-124524600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:124523600-124524800	Enhancers	Small Intestine	intestine
24	chr4:124523600-124525000	Enhancers	Stomach Mucosa	stomach
25	chr4:124523600-124525000	Enhancers	Dnd41	blood
26	chr4:124523800-124525000	Enhancers	Hela-S3	cervix
27	chr4:124524000-124524600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:124524000-124524600	Enhancers	HMEC	breast
29	chr4:124524000-124524600	Enhancers	K562	blood
30	chr4:124524000-124524800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:124524000-124524800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:124524000-124525000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr4:124524200-124524400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:124524200-124524600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:124524200-124524600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:124524200-124524600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr4:124524200-124524600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:124524200-124524600	Enhancers	Fetal Kidney	kidney
39	chr4:124524200-124524600	Enhancers	Fetal Stomach	stomach
40	chr4:124524200-124524600	Enhancers	Lung	lung
41	chr4:124524200-124524600	Enhancers	HUVEC	blood vessel
42	chr4:124524200-124524800	Enhancers	Primary hematopoietic stem cells	blood

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