Variant report

Variant	rs34703847
Chromosome Location	chr6:56586928-56586929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11961141	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11961342	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11968575	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11970648	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13192478	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13192567	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13198399	0.93[EUR][1000 genomes]
rs13198938	0.93[EUR][1000 genomes]
rs13203000	0.93[EUR][1000 genomes]
rs13210876	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13213878	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13217390	0.93[EUR][1000 genomes]
rs13219546	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13219942	0.92[EUR][1000 genomes]
rs16888118	0.84[AFR][1000 genomes]
rs16888135	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2967960	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2967963	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3002003	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3002004	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3002006	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3002007	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3002008	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3002009	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3002010	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3002011	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34429594	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34455199	0.93[EUR][1000 genomes]
rs34463732	0.85[EUR][1000 genomes]
rs34465210	0.93[EUR][1000 genomes]
rs34566275	0.93[EUR][1000 genomes]
rs34587484	0.93[EUR][1000 genomes]
rs34623351	0.93[EUR][1000 genomes]
rs34803237	0.93[EUR][1000 genomes]
rs34812826	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34824960	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34832779	0.92[EUR][1000 genomes]
rs35089136	0.89[ASN][1000 genomes]
rs35326806	0.92[EUR][1000 genomes]
rs35494794	0.92[EUR][1000 genomes]
rs35876418	0.93[EUR][1000 genomes]
rs35920751	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36068365	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4073960	0.84[AFR][1000 genomes]
rs41267675	0.93[EUR][1000 genomes]
rs4275049	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4574644	0.89[ASN][1000 genomes]
rs4640889	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56094263	0.89[ASN][1000 genomes]
rs59085778	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59162324	0.89[ASN][1000 genomes]
rs59247267	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60498201	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62412544	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62412556	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6901176	0.85[AFR][1000 genomes]
rs6926134	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6938003	0.93[AMR][1000 genomes];0.92[EUR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56570200-56590000	Weak transcription	Right Atrium	heart
2	chr6:56579400-56592000	Weak transcription	Lung	lung
3	chr6:56580800-56592000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:56580800-56595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:56581000-56589200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:56581000-56589200	Weak transcription	HSMMtube	muscle
7	chr6:56581000-56590000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:56581200-56587800	Weak transcription	Fetal Heart	heart
9	chr6:56581200-56589000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:56581200-56590200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:56581400-56588600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:56581400-56588600	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:56581400-56589200	Weak transcription	Brain Angular Gyrus	brain
14	chr6:56581400-56589200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:56581400-56592000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:56581600-56588600	Weak transcription	Brain Substantia Nigra	brain
17	chr6:56581600-56588600	Weak transcription	Psoas Muscle	Psoas
18	chr6:56581600-56588800	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:56581600-56588800	Weak transcription	NHDF-Ad	bronchial
20	chr6:56581600-56589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:56581600-56589200	Weak transcription	NHLF	lung
22	chr6:56581600-56597800	Weak transcription	Fetal Brain Male	brain
23	chr6:56582400-56588600	Weak transcription	Brain Anterior Caudate	brain
24	chr6:56582600-56589200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:56582600-56589200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:56582600-56611600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:56583000-56589200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:56583600-56591200	Weak transcription	NHEK	skin
29	chr6:56583800-56590800	Weak transcription	HMEC	breast
30	chr6:56584400-56588400	Weak transcription	Osteobl	bone
31	chr6:56584400-56588600	Weak transcription	NH-A	brain
32	chr6:56584400-56589000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:56584600-56589200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:56584600-56593600	Weak transcription	HUVEC	blood vessel
35	chr6:56584800-56599800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:56585000-56588000	Weak transcription	Left Ventricle	heart
37	chr6:56585200-56588800	Weak transcription	HepG2	liver
38	chr6:56586000-56587600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:56586000-56590000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:56586200-56587200	ZNF genes & repeats	GM12878-XiMat	blood
41	chr6:56586200-56589400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:56586200-56590000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:56586400-56587000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:56586400-56595600	Weak transcription	Adipose Nuclei	Adipose
45	chr6:56586600-56587000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:56586600-56587800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr6:56586600-56588200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr6:56586600-56588600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:56586600-56588600	Strong transcription	HSMM	muscle
50	chr6:56586800-56587400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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