Variant report

Variant	rs4734390
Chromosome Location	chr8:99196924-99196925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99193362..99195766-chr8:99196470..99198946,2	MCF-7	breast:
2	chr8:99189856..99193042-chr8:99195160..99197940,6	MCF-7	breast:
3	chr8:99188577..99190258-chr8:99195594..99198169,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10093356	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10093623	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10093678	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10093856	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10095790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10095850	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs10095887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100633	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10108460	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1109159	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11987536	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550682	0.87[JPT][hapmap]
rs12677283	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12680361	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12680980	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13271095	0.87[JPT][hapmap]
rs1542289	0.95[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896763	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896768	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896802	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2331809	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28485842	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2877460	0.90[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2877495	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3779721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734388	0.83[ASN][1000 genomes]
rs4734389	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735535	0.82[ASN][1000 genomes]
rs4735539	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735542	0.83[JPT][hapmap]
rs55908268	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56906975	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57644890	0.87[EUR][1000 genomes]
rs60414868	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6468620	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6468624	0.86[JPT][hapmap]
rs6982810	0.83[JPT][hapmap]
rs7009145	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680644	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs736191	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs896417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891216	chr8:99153160-99209248	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv14716	chr8:99169690-99199971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99197600	Weak transcription	Esophagus	oesophagus
2	chr8:99191600-99203000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
4	chr8:99192200-99201000	Weak transcription	Fetal Heart	heart
5	chr8:99192200-99205800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:99192200-99210600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:99192200-99214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:99192600-99197400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:99192800-99210400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:99193400-99206400	Weak transcription	Pancreas	Pancrea
11	chr8:99194400-99198000	Weak transcription	Lung	lung
12	chr8:99194800-99216600	Weak transcription	Colonic Mucosa	Colon
13	chr8:99195600-99197800	Enhancers	Fetal Stomach	stomach
14	chr8:99195800-99197800	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:99195800-99198600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:99196000-99197000	Enhancers	Fetal Muscle Leg	muscle
17	chr8:99196200-99197000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:99196200-99197000	Enhancers	Fetal Lung	lung
19	chr8:99196200-99197200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:99196200-99197200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:99196200-99197200	Enhancers	Adipose Nuclei	Adipose
22	chr8:99196200-99197400	Enhancers	Aorta	Aorta
23	chr8:99196200-99198000	Enhancers	Osteobl	bone
24	chr8:99196200-99198200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:99196200-99198200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:99196200-99198200	Enhancers	NHDF-Ad	bronchial
27	chr8:99196200-99198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:99196400-99197000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:99196400-99197000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:99196400-99197000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:99196400-99197000	Enhancers	HSMMtube	muscle
32	chr8:99196400-99197200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:99196400-99198200	Enhancers	Right Ventricle	heart
34	chr8:99196400-99204800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:99196600-99197000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:99196600-99197000	Enhancers	Fetal Intestine Large	intestine
37	chr8:99196600-99197000	Enhancers	Placenta	Placenta
38	chr8:99196600-99197400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:99196600-99197800	Enhancers	Right Atrium	heart
40	chr8:99196600-99197800	Enhancers	NHLF	lung
41	chr8:99196600-99198200	Enhancers	Left Ventricle	heart
42	chr8:99196600-99198400	Enhancers	Ovary	ovary
43	chr8:99196800-99197000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:99196800-99197000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:99196800-99197000	Enhancers	Stomach Smooth Muscle	stomach

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