Variant report

Variant	rs6817243
Chromosome Location	chr4:120991438-120991439
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	CEBPB	chr4:120991414-120991696	IMR90	lung:	n/a	n/a
2	FOS	chr4:120991405-120991649	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120990955..120993835-chr4:120994776..120997866,3	K562	blood:
2	chr4:120990485..120993835-chr4:120994653..120998479,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-6	chr4:120988015-120991623	NONHSAT098115

Variant related genes	Relation type
MAD2L1	TF binding region

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13112411	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13121806	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13126018	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13128669	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131021	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13151610	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1362595	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1546120	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2111143	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2908988	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2908989	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3113988	0.83[CEU][hapmap]
rs4568220	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6810690	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6855113	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7659231	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7661491	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[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	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120989400-120992200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:120989400-120992400	Enhancers	NHLF	lung
3	chr4:120989400-121012600	Weak transcription	Aorta	Aorta
4	chr4:120989600-120991600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:120989600-120991800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:120989600-120992200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:120989600-120992200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:120989600-120992200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:120989600-120992400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:120989600-120992400	Enhancers	Osteobl	bone
11	chr4:120989600-120992800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:120989600-120993000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:120989800-120991600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:120989800-120992000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:120989800-120992000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:120989800-120996400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:120990400-120992000	Active TSS	GM12878-XiMat	blood
18	chr4:120990400-120992000	Enhancers	HMEC	breast
19	chr4:120990400-120992200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:120990400-120992400	Enhancers	NHEK	skin
21	chr4:120990400-120993400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:120990600-120991600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:120990600-120991600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:120990600-120991800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:120990600-120992200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:120990600-120992400	Enhancers	Dnd41	blood
27	chr4:120990800-120992000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:120990800-120992400	Enhancers	NHDF-Ad	bronchial
29	chr4:120990800-120992800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:120991000-120991800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:120991000-120991800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:120991000-120991800	Enhancers	HUVEC	blood vessel
33	chr4:120991000-120992000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:120991000-120992000	Enhancers	HSMM	muscle
35	chr4:120991000-120992200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:120991000-120992400	Enhancers	NH-A	brain
37	chr4:120991000-120998200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:120991200-120992400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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