Variant report

Variant	rs4734397
Chromosome Location	chr8:99350498-99350499
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99348991..99351548-chr8:99381372..99383684,2	MCF-7	breast:
2	chr8:99344736..99347953-chr8:99348247..99350606,3	K562	blood:
3	chr8:99302112..99311881-chr8:99336694..99356691,43	MCF-7	breast:
4	chr8:99304023..99311791-chr8:99340525..99354206,27	MCF-7	breast:
5	chr8:99344129..99347953-chr8:99347984..99350606,4	K562	blood:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10955166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782501	0.93[ASN][1000 genomes]
rs13259687	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16892231	0.96[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35412869	0.84[ASN][1000 genomes]
rs36067643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4131950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131951	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4145238	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4236847	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4273827	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4284021	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4320524	0.87[AMR][1000 genomes]
rs4346964	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4346967	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4366057	0.95[ASN][1000 genomes]
rs4458848	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4644205	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734396	0.90[ASN][1000 genomes]
rs4734398	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4734399	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735553	0.96[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735554	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56084201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468629	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6468632	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7005707	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7829174	0.89[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7831383	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv891217	chr8:99346537-99391285	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3380205	chr8:99350459-99350628	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99344400-99354200	Enhancers	NHDF-Ad	bronchial
2	chr8:99348000-99351000	Enhancers	HSMMtube	muscle
3	chr8:99348200-99351000	Enhancers	HSMM	muscle
4	chr8:99348200-99354600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:99348400-99352000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:99348600-99350600	Weak transcription	Ovary	ovary
7	chr8:99348600-99351000	Enhancers	Osteobl	bone
8	chr8:99348600-99351200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:99348600-99355200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:99348800-99351400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:99348800-99352000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:99349000-99351400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:99349200-99351000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:99349200-99351800	Enhancers	NHLF	lung
15	chr8:99349600-99350800	Enhancers	Right Atrium	heart
16	chr8:99349600-99351200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:99349800-99350800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:99350200-99350800	Enhancers	Adipose Nuclei	Adipose
19	chr8:99350200-99350800	Enhancers	NH-A	brain
20	chr8:99350400-99350800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:99350400-99350800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:99350400-99350800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:99350400-99350800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:99350400-99351200	Enhancers	HMEC	breast

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