Variant report

Variant	rs2438143
Chromosome Location	chr4:95440929-95440930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95440363..95442905-chr4:95447523..95451305,3	K562	blood:
2	chr4:95438774..95443250-chr4:95444770..95449023,5	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1353044	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433317	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433324	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2433325	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2438142	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2438144	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452559	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2452560	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2452561	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2452562	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2452564	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2452565	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2452566	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2452568	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510785	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510786	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510788	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510791	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510792	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510794	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510795	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
3	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
4	chr4:95435800-95444600	Enhancers	Fetal Heart	heart
5	chr4:95436200-95441600	Enhancers	Liver	Liver
6	chr4:95436400-95447200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:95436800-95447800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:95437200-95448400	Weak transcription	HSMM	muscle
9	chr4:95437400-95445000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:95437600-95441000	Enhancers	A549	lung
11	chr4:95437600-95456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:95437800-95441200	Weak transcription	NHDF-Ad	bronchial
13	chr4:95437800-95448600	Weak transcription	NHEK	skin
14	chr4:95438000-95448400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:95438200-95441200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:95438200-95442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:95438200-95448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:95438200-95454600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:95438400-95454800	Weak transcription	Hela-S3	cervix
20	chr4:95438600-95442600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr4:95438600-95445000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:95438800-95441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:95438800-95443800	Weak transcription	NHLF	lung
24	chr4:95438800-95444400	Weak transcription	HMEC	breast
25	chr4:95438800-95446800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:95438800-95448600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:95439000-95447000	Weak transcription	HepG2	liver
28	chr4:95439200-95441200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:95439200-95441600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr4:95439200-95442600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:95439400-95441000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:95439400-95448800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:95439800-95441200	Enhancers	Primary hematopoietic stem cells	blood
34	chr4:95439800-95441600	Enhancers	Placenta	Placenta
35	chr4:95439800-95444600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:95440000-95441200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:95440000-95441400	Enhancers	Adipose Nuclei	Adipose
38	chr4:95440000-95441400	Enhancers	Right Ventricle	heart
39	chr4:95440000-95441400	Genic enhancers	HUVEC	blood vessel
40	chr4:95440000-95441600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:95440000-95441600	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:95440000-95441600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr4:95440000-95441600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:95440000-95441600	Genic enhancers	Left Ventricle	heart
45	chr4:95440000-95441800	Flanking Active TSS	GM12878-XiMat	blood
46	chr4:95440000-95442200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:95440000-95442200	Enhancers	Primary B cells from cord blood	blood
48	chr4:95440200-95441000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:95440200-95441200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr4:95440200-95441400	Enhancers	Gastric	stomach

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