Variant report

Variant	rs200855
Chromosome Location	chr6:5084321-5084322
allele	G/T
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	SMARCB1	chr6:5084261-5086221	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:5081927-5084347	HepG2	liver:	n/a	n/a
3	EP300	chr6:5084310-5085351	ECC-1	luminal epithelium:	n/a	chr6:5084820-5084836 chr6:5084923-5084932 chr6:5084824-5084840 chr6:5085062-5085078 chr6:5084618-5084631 chr6:5085064-5085080
4	POLR2A	chr6:5084246-5084376	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:5082575-5085730	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr6:5084294-5085373	K562	blood:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
7	YY1	chr6:5084302-5085169	HepG2	liver:	n/a	chr6:5084897-5084911 chr6:5084917-5084931 chr6:5084926-5084940 chr6:5085073-5085082 chr6:5084902-5084911 chr6:5084689-5084703 chr6:5084923-5084932
8	MAX	chr6:5084076-5085263	HepG2	liver:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245

No.	Distal block	Cell Line	Cell type
1	chr6:5083037..5085353-chr6:5088863..5093171,5	MCF-7	breast:
2	chr6:5082435..5084667-chr6:5094252..5095807,2	K562	blood:
3	chr6:5082094..5085573-chr6:5086074..5088451,3	K562	blood:

Variant related genes	Relation type
PPP1R3G	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13340416	0.83[ASN][1000 genomes]
rs200852	0.80[ASN][1000 genomes]
rs200853	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs200854	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs200856	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374283	0.83[ASN][1000 genomes]
rs378259	0.83[ASN][1000 genomes]
rs397654	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs398302	0.83[ASN][1000 genomes]
rs421273	0.83[ASN][1000 genomes]
rs436556	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9378930	0.83[ASN][1000 genomes]
rs9378931	0.83[ASN][1000 genomes]
rs9392650	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1017373	chr6:5066785-5128943	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv538112	chr6:5066785-5128943	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5080000-5084800	Enhancers	NHDF-Ad	bronchial
2	chr6:5080400-5085400	Flanking Active TSS	HepG2	liver
3	chr6:5081000-5084400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:5082000-5084400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:5082000-5084400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:5082000-5084400	Enhancers	A549	lung
7	chr6:5082000-5084800	Enhancers	HMEC	breast
8	chr6:5082200-5084400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:5082400-5084400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:5082600-5084400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
11	chr6:5082600-5084800	Enhancers	Placenta	Placenta
12	chr6:5083000-5084400	Enhancers	K562	blood
13	chr6:5083000-5084600	Enhancers	NH-A	brain
14	chr6:5083200-5084400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:5083200-5084400	Weak transcription	Pancreas	Pancrea
16	chr6:5083200-5084600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:5083200-5084600	Weak transcription	Gastric	stomach
18	chr6:5083400-5084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:5083400-5084400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:5083400-5084400	Weak transcription	Esophagus	oesophagus
21	chr6:5083400-5084400	Weak transcription	Osteobl	bone
22	chr6:5083400-5084600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:5083400-5084800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr6:5083800-5084400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:5083800-5084400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:5083800-5084400	Enhancers	Hela-S3	cervix
27	chr6:5083800-5085000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr6:5084000-5084400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:5084000-5084600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:5084000-5084800	Weak transcription	NHEK	skin
31	chr6:5084200-5084400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:5084200-5084400	Active TSS	Primary hematopoietic stem cells	blood
33	chr6:5084200-5084400	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr6:5084200-5084400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr6:5084200-5084400	Enhancers	Stomach Smooth Muscle	stomach
36	chr6:5084200-5084400	Bivalent Enhancer	Spleen	Spleen
37	chr6:5084200-5084400	Weak transcription	HSMM	muscle
38	chr6:5084200-5084800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr6:5084200-5084800	Weak transcription	NHLF	lung
40	chr6:5084200-5085000	Active TSS	Adipose Nuclei	Adipose
41	chr6:5084200-5085000	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr6:5084200-5085200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:5084200-5086000	Active TSS	Right Ventricle	heart
44	chr6:5084200-5087400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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