Variant report

Variant	rs2051428
Chromosome Location	chr4:100123186-100123187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100122648..100123636-chr4:100326377..100326984,3	MCF-7	breast:
2	chr4:100122531..100123516-chr4:100326382..100326915,3	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10008281	0.92[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10011305	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10017638	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10032099	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1039151	0.84[EUR][1000 genomes]
rs1042026	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs11722561	0.94[ASN][1000 genomes]
rs1229966	0.92[JPT][hapmap]
rs12374406	0.80[EUR][1000 genomes]
rs12644595	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12648974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12650681	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1312200	0.81[CHD][hapmap]
rs1566141	0.84[EUR][1000 genomes]
rs17028615	0.83[LWK][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs1970704	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2066701	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs2075633	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs2156733	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2866038	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2903165	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34777421	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3762894	0.88[CHD][hapmap]
rs3819197	0.82[EUR][1000 genomes]
rs3857224	0.89[GIH][hapmap]
rs4147545	0.91[GIH][hapmap]
rs4148883	0.90[CHD][hapmap]
rs4148887	0.88[CHD][hapmap]
rs4148888	0.88[CHD][hapmap]
rs4394004	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4640679	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699726	0.96[ASN][1000 genomes]
rs4699730	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4699738	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6813962	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818077	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824253	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7669776	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7673323	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs975833	0.82[EUR][1000 genomes]
rs9995799	0.93[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv879657	chr4:100082154-100139366	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100102200-100123400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:100108400-100141600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:100114200-100126400	Weak transcription	Aorta	Aorta
4	chr4:100115200-100129800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:100120200-100124000	Enhancers	HepG2	liver
6	chr4:100120600-100124600	Enhancers	Fetal Intestine Large	intestine
7	chr4:100120600-100127600	Enhancers	Fetal Intestine Small	intestine
8	chr4:100121400-100124200	Enhancers	Liver	Liver
9	chr4:100121600-100126200	Enhancers	Fetal Lung	lung
10	chr4:100122200-100123200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:100122400-100123400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:100122600-100127000	Enhancers	Adipose Nuclei	Adipose
13	chr4:100122800-100124200	Enhancers	Stomach Mucosa	stomach
14	chr4:100122800-100124400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:100123000-100123400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:100123000-100123600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:100123000-100123800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:100123000-100124000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:100123000-100124000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr4:100123000-100125200	Enhancers	NHDF-Ad	bronchial
21	chr4:100123000-100127600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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