Variant report

Variant	rs712689
Chromosome Location	chr7:129119234-129119235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10954226	0.81[CEU][hapmap]
rs11982324	0.88[ASN][1000 genomes]
rs12667232	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs12671604	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs1559486	0.82[TSI][hapmap]
rs598412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs624118	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs644723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs657528	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs691124	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs691158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs691435	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs691555	0.87[ASW][hapmap];0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs691807	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs692432	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs692597	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs692625	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs692697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6966595	0.80[TSI][hapmap]
rs712691	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs753336	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs822038	0.80[CHB][hapmap];0.84[TSI][hapmap]
rs822040	0.84[TSI][hapmap]
rs966481	0.91[CHD][hapmap];0.86[JPT][hapmap]

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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
2	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
3	chr7:129097600-129128600	Weak transcription	NH-A	brain
4	chr7:129101600-129128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:129102200-129124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129102400-129120400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
8	chr7:129103200-129129600	Weak transcription	Dnd41	blood
9	chr7:129103200-129135400	Weak transcription	HepG2	liver
10	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:129104800-129121200	Weak transcription	Fetal Stomach	stomach
12	chr7:129105400-129127400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:129106600-129121400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:129107000-129121600	Weak transcription	Right Ventricle	heart
15	chr7:129107400-129124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:129107600-129119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:129108800-129122400	Weak transcription	Left Ventricle	heart
18	chr7:129108800-129128600	Weak transcription	Osteobl	bone
19	chr7:129109200-129125800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:129109600-129120400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:129109800-129120400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:129110400-129121400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:129110800-129119800	Weak transcription	Psoas Muscle	Psoas
24	chr7:129110800-129122600	Weak transcription	Brain Anterior Caudate	brain
25	chr7:129111000-129120000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:129111600-129119800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:129111800-129125400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:129111800-129125800	Weak transcription	HMEC	breast
29	chr7:129111800-129128800	Weak transcription	HSMM	muscle
30	chr7:129112000-129122800	Weak transcription	NHEK	skin
31	chr7:129112200-129120400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:129112200-129120400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:129112200-129129000	Weak transcription	NHDF-Ad	bronchial
34	chr7:129112200-129134600	Weak transcription	Fetal Heart	heart
35	chr7:129112600-129125800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:129115200-129120400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:129116400-129127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:129116600-129122600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:129116600-129125400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:129117200-129124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:129117200-129126200	Strong transcription	K562	blood
42	chr7:129117600-129128000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:129117800-129119800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:129118000-129119800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:129118000-129120600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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