Variant report

Variant	rs6758747
Chromosome Location	chr2:110461325-110461326
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110455483..110458569-chr2:110458609..110461502,6	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11682853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412567	1.00[JPT][hapmap]
rs2060406	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2060407	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34837810	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57115181	0.94[EUR][1000 genomes]
rs73956135	0.94[EUR][1000 genomes]
rs951954	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription 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	60 gene(s)	inside rSNPs	diseases
4	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv428061	chr2:110423940-110714002	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv2751812	chr2:110457214-110980346	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr2:110455400-110461800	Enhancers	Placenta	Placenta
2	chr2:110455800-110461600	Enhancers	Fetal Intestine Small	intestine
3	chr2:110456400-110461800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:110456600-110461400	Enhancers	Fetal Lung	lung
5	chr2:110456600-110462000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:110458600-110462400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:110458800-110461600	Weak transcription	Gastric	stomach
8	chr2:110458800-110463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:110458800-110468400	Weak transcription	Right Atrium	heart
10	chr2:110459600-110461400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:110459800-110461400	Enhancers	Liver	Liver
12	chr2:110459800-110461600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:110460000-110461400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:110460000-110462000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:110460200-110461400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:110460200-110461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:110460200-110461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:110460200-110461400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:110460200-110461400	Weak transcription	Esophagus	oesophagus
20	chr2:110460200-110461400	Weak transcription	Ovary	ovary
21	chr2:110460200-110463000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:110460200-110463000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:110460200-110464000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:110460200-110468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:110460200-110469200	Weak transcription	Lung	lung
26	chr2:110460400-110461400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:110460400-110462000	Enhancers	HMEC	breast
28	chr2:110460400-110467000	Weak transcription	Stomach Mucosa	stomach
29	chr2:110460600-110461800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:110460600-110465000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:110460800-110461600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:110460800-110461800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:110461000-110461600	Enhancers	NHEK	skin
34	chr2:110461000-110467000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:110461000-110474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:110461200-110461800	Flanking Active TSS	Hela-S3	cervix
37	chr2:110461200-110462000	Enhancers	HepG2	liver
38	chr2:110461200-110467000	Weak transcription	Rectal Mucosa Donor 31	rectum

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