Variant report

Variant	rs13205191
Chromosome Location	chr6:56800792-56800793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56799165..56801512-chr6:56813694..56816410,2	K562	blood:
2	chr6:56799400..56801740-chr6:56804250..56805836,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1016048	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs10498814	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12175661	0.96[EUR][1000 genomes]
rs16888222	0.83[JPT][hapmap]
rs16888268	0.96[EUR][1000 genomes]
rs17758527	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17758663	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes]
rs1839837	0.96[EUR][1000 genomes]
rs1870638	0.83[JPT][hapmap]
rs1903331	0.92[ASN][1000 genomes]
rs2122958	0.82[JPT][hapmap]
rs2306011	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs28498151	0.96[EUR][1000 genomes]
rs35942895	0.93[ASN][1000 genomes]
rs4576249	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs57994994	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58099889	0.96[EUR][1000 genomes]
rs58332182	0.87[EUR][1000 genomes]
rs59106338	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60401134	0.96[EUR][1000 genomes]
rs60910121	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411412	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411417	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411418	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411419	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62411425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62411430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62417377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62417378	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62417385	0.94[EUR][1000 genomes]
rs6901192	0.81[JPT][hapmap]
rs7744240	0.82[JPT][hapmap]
rs7744799	0.83[JPT][hapmap]
rs7760435	0.83[CHB][hapmap]
rs9296855	0.82[JPT][hapmap]
rs9349842	0.96[EUR][1000 genomes]
rs9357936	0.96[EUR][1000 genomes]
rs9367700	0.96[EUR][1000 genomes]
rs9367701	0.96[EUR][1000 genomes]
rs9367702	0.96[EUR][1000 genomes]
rs9370550	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs9370552	0.81[JPT][hapmap]
rs9370553	0.96[EUR][1000 genomes]
rs9370554	0.96[EUR][1000 genomes]
rs9382669	0.83[CHB][hapmap]
rs9382670	0.83[CHB][hapmap]
rs9382673	0.96[EUR][1000 genomes]
rs9396238	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[EUR][1000 genomes]
rs9396240	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs9396245	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs9396246	0.83[CHB][hapmap]
rs9396251	0.92[EUR][1000 genomes]
rs9396252	1.00[CEU][hapmap]
rs9396254	0.96[EUR][1000 genomes]
rs9464411	0.96[EUR][1000 genomes]
rs9464412	0.96[EUR][1000 genomes]
rs9464413	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs9475757	0.96[EUR][1000 genomes]
rs9475758	0.83[CHB][hapmap]
rs9475761	0.96[EUR][1000 genomes]
rs9475762	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs9475763	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56792800-56802400	Weak transcription	A549	lung
2	chr6:56793000-56802600	Weak transcription	HSMM	muscle
3	chr6:56793200-56802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:56793200-56803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:56793200-56803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:56793200-56803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:56793200-56803200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:56796200-56803800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:56796800-56803800	Weak transcription	HSMMtube	muscle
10	chr6:56797600-56801600	Weak transcription	NHLF	lung
11	chr6:56798200-56801400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:56798600-56801800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:56798800-56801200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:56798800-56803400	Weak transcription	K562	blood
15	chr6:56799200-56801200	Weak transcription	GM12878-XiMat	blood
16	chr6:56799200-56802400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:56799200-56802400	Weak transcription	Hela-S3	cervix
18	chr6:56799400-56801400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:56799800-56801600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:56800000-56801000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:56800200-56801000	Weak transcription	NHDF-Ad	bronchial
22	chr6:56800200-56801600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:56800200-56802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:56800400-56802000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:56800400-56802600	Weak transcription	NH-A	brain
26	chr6:56800400-56802600	Weak transcription	Osteobl	bone
27	chr6:56800400-56803000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:56800600-56801000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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