Variant report

Variant	rs4731581
Chromosome Location	chr7:129132680-129132681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129132630..129134641-chr7:129135721..129138192,2	K562	blood:
2	chr7:129091549..129093191-chr7:129130902..129133735,2	MCF-7	breast:
3	chr7:129131493..129133001-chr7:129248481..129251293,2	K562	blood:
4	chr7:129131412..129134130-chr7:129134441..129137221,2	K562	blood:
5	chr7:129127657..129130703-chr7:129131027..129133692,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10500117	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10954233	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10954234	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11762711	0.91[ASN][1000 genomes]
rs12155142	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12667232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12671604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2305326	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34000750	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34794308	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34916100	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35131522	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35277123	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35544616	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4728165	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4731578	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4731579	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4731580	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731582	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731583	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598412	0.85[JPT][hapmap]
rs62489110	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs692597	0.89[JPT][hapmap]
rs6943021	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs753336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs966481	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
2	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
3	chr7:129103200-129135400	Weak transcription	HepG2	liver
4	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:129112200-129134600	Weak transcription	Fetal Heart	heart
6	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
7	chr7:129124000-129137200	Weak transcription	Esophagus	oesophagus
8	chr7:129126000-129133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:129126000-129136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:129126200-129133000	Weak transcription	NHEK	skin
11	chr7:129126400-129133000	Weak transcription	Brain Anterior Caudate	brain
12	chr7:129127800-129133400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:129128000-129133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:129128000-129133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:129129400-129133000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:129129400-129133200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:129129400-129141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:129129600-129133000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:129129600-129133000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:129129600-129133400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:129129600-129133600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:129129600-129135800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:129129600-129141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:129129800-129133400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:129129800-129135600	Weak transcription	HSMMtube	muscle
26	chr7:129130000-129133000	Weak transcription	NHLF	lung
27	chr7:129130000-129133400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:129130000-129133400	Weak transcription	NH-A	brain
29	chr7:129130000-129135400	Weak transcription	K562	blood
30	chr7:129130200-129133000	Weak transcription	HSMM	muscle
31	chr7:129132000-129134600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:129132000-129134600	Enhancers	NHDF-Ad	bronchial
33	chr7:129132400-129133400	Weak transcription	Osteobl	bone
34	chr7:129132600-129133600	Enhancers	Primary T cells from cord blood	blood
35	chr7:129132600-129134000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:129132600-129134400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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