Variant report

Variant	rs4666295
Chromosome Location	chr2:20337144-20337145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20333298..20335083-chr2:20336801..20339415,3	MCF-7	breast:
2	chr2:20335576..20338444-chr2:20340414..20343314,2	MCF-7	breast:
3	chr2:20331753..20338544-chr2:20423396..20426851,7	MCF-7	breast:
4	chr2:20329032..20331915-chr2:20335666..20338081,2	K562	blood:
5	chr2:20334225..20337843-chr2:20372187..20375546,3	MCF-7	breast:
6	chr2:20336087..20338079-chr2:20398729..20401526,2	MCF-7	breast:
7	chr2:20329969..20331497-chr2:20335447..20338002,2	MCF-7	breast:
8	chr2:20329242..20332304-chr2:20334345..20337488,3	MCF-7	breast:
9	chr2:20335603..20338539-chr2:20339889..20342133,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266059	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10196396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17697993	0.81[JPT][hapmap]
rs4233757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4666358	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4666359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4666361	0.95[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6531213	0.81[JPT][hapmap]
rs6725416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1012055	chr2:20336237-20356606	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1004083	chr2:20336237-20388138	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20331800-20338600	Weak transcription	Small Intestine	intestine
2	chr2:20332200-20364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:20334200-20346600	Enhancers	Placenta	Placenta
4	chr2:20335000-20337200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:20335400-20339800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:20335600-20337600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:20335600-20337800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:20335600-20339200	Enhancers	K562	blood
9	chr2:20335800-20337400	Enhancers	Spleen	Spleen
10	chr2:20335800-20338000	Weak transcription	Fetal Kidney	kidney
11	chr2:20335800-20343400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:20336000-20338400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:20336000-20338600	Weak transcription	A549	lung
14	chr2:20336000-20338800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:20336000-20339200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:20336000-20340600	Weak transcription	Liver	Liver
17	chr2:20336200-20338800	Weak transcription	Esophagus	oesophagus
18	chr2:20336200-20338800	Weak transcription	Stomach Mucosa	stomach
19	chr2:20336200-20339400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:20336400-20338000	Weak transcription	HMEC	breast
21	chr2:20336400-20338600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:20336400-20339200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:20336400-20346200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:20336800-20337400	Enhancers	Ovary	ovary
25	chr2:20336800-20337600	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr2:20336800-20340200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:20336800-20341800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:20337000-20337200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:20337000-20337400	Enhancers	Fetal Lung	lung
30	chr2:20337000-20337400	Weak transcription	NHEK	skin
31	chr2:20337000-20337600	Enhancers	Colonic Mucosa	Colon
32	chr2:20337000-20337800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr2:20337000-20338200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:20337000-20338600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:20337000-20338800	Enhancers	HUES6 Cell Line	embryonic stem cell

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