Variant report

Variant	rs189557
Chromosome Location	chr6:100901837-100901838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:100894013..100895525-chr6:100899314..100902220,2	MCF-7	breast:
2	chr6:100895834..100897830-chr6:100900574..100903178,3	K562	blood:
3	chr6:100887121..100888891-chr6:100901432..100903601,2	MCF-7	breast:
4	chr6:100895834..100897830-chr6:100900625..100903178,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17060629	0.94[AFR][1000 genomes]
rs17060659	0.80[AFR][1000 genomes]
rs241814	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3798484	0.95[AFR][1000 genomes]
rs9497479	0.93[AFR][1000 genomes]
rs9497547	0.86[AFR][1000 genomes]
rs9497585	0.80[AFR][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	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1028122	chr6:100774245-100964347	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1023710	chr6:100810738-101001115	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv538388	chr6:100810738-101001115	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv515895	chr6:100868779-100910798	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv533053	chr6:100883636-100911512	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100897400-100908600	Weak transcription	HSMMtube	muscle
2	chr6:100897600-100902000	Weak transcription	Gastric	stomach
3	chr6:100897800-100903200	Weak transcription	Pancreas	Pancrea
4	chr6:100898000-100906000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:100900600-100902600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:100901000-100902400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:100901000-100902400	Bivalent Enhancer	Adipose Nuclei	Adipose
8	chr6:100901200-100903400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:100901600-100902000	Flanking Active TSS	Psoas Muscle	Psoas
10	chr6:100901600-100902200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:100901600-100902200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:100901600-100902200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:100901600-100902200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:100901600-100906800	ZNF genes & repeats	Spleen	Spleen
15	chr6:100901600-100907200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:100901800-100902000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:100901800-100902000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:100901800-100902000	Bivalent Enhancer	Left Ventricle	heart
19	chr6:100901800-100902000	Bivalent Enhancer	Lung	lung
20	chr6:100901800-100902000	Bivalent Enhancer	HUVEC	blood vessel
21	chr6:100901800-100902200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr6:100901800-100902200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:100901800-100902200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:100901800-100902200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr6:100901800-100902200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:100901800-100902400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:100901800-100902400	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr6:100901800-100902400	Bivalent Enhancer	Placenta	Placenta
29	chr6:100901800-100902600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr6:100901800-100903200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr6:100901800-100904000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr6:100901800-100907600	Active TSS	Pancreatic Islets	Pancreatic Islet

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