Variant report

Variant	rs11727986
Chromosome Location	chr4:8537141-8537142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8527606..8529161-chr4:8536192..8537693,2	MCF-7	breast:
2	chr4:8521151..8523574-chr4:8535830..8537925,2	MCF-7	breast:
3	chr4:8534354..8538693-chr4:8538746..8544060,9	MCF-7	breast:
4	chr4:8535864..8537447-chr4:8555763..8557535,2	MCF-7	breast:
5	chr4:8495654..8498484-chr4:8534530..8537327,2	MCF-7	breast:
6	chr4:8531043..8532660-chr4:8536787..8539068,2	K562	blood:
7	chr4:8535273..8538017-chr4:8547280..8549775,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10805209	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs10938722	0.82[CHB][hapmap]
rs10938723	0.80[CHB][hapmap];0.82[CHD][hapmap]
rs11723504	0.85[AMR][1000 genomes]
rs11732364	0.84[CHB][hapmap]
rs12499116	0.88[AMR][1000 genomes]
rs13116362	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35097287	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35822470	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36092221	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4414938	0.80[CHB][hapmap];0.83[CHD][hapmap]
rs4449400	0.81[AMR][1000 genomes]
rs4996699	0.82[AMR][1000 genomes]
rs55723892	0.81[AMR][1000 genomes]
rs61570587	0.81[AMR][1000 genomes]
rs62287449	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6813080	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73227136	0.88[AMR][1000 genomes]
rs870095	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv461221	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv593640	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv980117	chr4:8535043-8545141	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8532600-8542800	Enhancers	Placenta	Placenta
2	chr4:8533200-8542800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8533600-8537400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:8533800-8537800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:8535000-8537200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:8535000-8541600	Enhancers	Pancreas	Pancrea
7	chr4:8535200-8537400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:8535200-8537400	Enhancers	Fetal Intestine Large	intestine
9	chr4:8535200-8538600	Enhancers	Colon Smooth Muscle	Colon
10	chr4:8535600-8538000	Enhancers	Fetal Kidney	kidney
11	chr4:8535800-8540400	Enhancers	Lung	lung
12	chr4:8536000-8537200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:8536000-8537200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:8536000-8537800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:8536000-8538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:8536000-8538600	Weak transcription	Fetal Lung	lung
17	chr4:8536000-8538600	Weak transcription	Fetal Stomach	stomach
18	chr4:8536000-8538600	Weak transcription	Gastric	stomach
19	chr4:8536000-8538600	Weak transcription	Ovary	ovary
20	chr4:8536000-8538800	Weak transcription	Colonic Mucosa	Colon
21	chr4:8536000-8541400	Enhancers	Stomach Mucosa	stomach
22	chr4:8536200-8537600	ZNF genes & repeats	GM12878-XiMat	blood
23	chr4:8536400-8537800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:8536400-8538400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:8536600-8537200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:8536600-8538200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:8536600-8538400	Weak transcription	HSMMtube	muscle
28	chr4:8536600-8538600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:8536600-8538600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:8536600-8538600	Weak transcription	NHEK	skin
31	chr4:8536600-8538800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:8536600-8541400	Enhancers	Esophagus	oesophagus
33	chr4:8536800-8538200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:8536800-8538200	Weak transcription	HMEC	breast
35	chr4:8536800-8538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:8536800-8538800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:8536800-8538800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:8536800-8539600	Enhancers	Fetal Thymus	thymus
39	chr4:8537000-8537200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:8537000-8537400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:8537000-8538800	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links