Variant report

Variant	rs7742369
Chromosome Location	chr6:34165721-34165722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34164913..34168337-chr6:34392237..34394260,3	MCF-7	breast:
2	chr6:34156581..34160896-chr6:34162763..34169787,10	K562	blood:
3	chr6:34162046..34166050-chr6:34204269..34209042,4	MCF-7	breast:
4	chr6:34161256..34167016-chr6:34189422..34193988,6	K562	blood:
5	chr6:34162021..34165758-chr6:34380623..34387316,6	K562	blood:
6	chr6:34160739..34183165-chr6:34199874..34216980,124	K562	blood:
7	chr6:34164779..34167229-chr6:34380902..34383659,2	MCF-7	breast:
8	chr6:34151306..34154507-chr6:34162844..34165811,3	K562	blood:
9	chr6:34163086..34165732-chr6:34214171..34216119,2	MCF-7	breast:
10	chr6:34164046..34167260-chr6:34381691..34384552,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124614	Chromatin interaction
ENSG00000271231	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000186577	Chromatin interaction
ENSG00000270800	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10807136	1.00[JPT][hapmap]
rs10807137	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1150777	0.88[CHB][hapmap];0.95[CHD][hapmap]
rs1150779	0.88[CHB][hapmap];0.95[CHD][hapmap]
rs1150781	0.88[CHB][hapmap]
rs1187115	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1187118	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11967909	0.83[JPT][hapmap]
rs1211163	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214804	0.90[ASN][1000 genomes]
rs1573905	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs1592269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1759627	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1759645	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1759646	0.88[ASN][1000 genomes]
rs1776877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1776897	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1776898	0.90[ASN][1000 genomes]
rs1776901	0.82[ASN][1000 genomes]
rs2780226	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2797963	0.87[ASN][1000 genomes]
rs2797964	0.87[ASN][1000 genomes]
rs4711385	1.00[JPT][hapmap]
rs4713765	1.00[CHB][hapmap]
rs4713766	1.00[JPT][hapmap]
rs56348792	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6457765	0.88[ASN][1000 genomes]
rs6457769	1.00[CHB][hapmap]
rs6909732	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs6918981	0.85[CHD][hapmap]
rs7749848	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7751671	0.81[ASN][1000 genomes]
rs7774122	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9357174	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366846	0.84[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap]
rs9394200	0.88[CHB][hapmap];0.95[CHD][hapmap]
rs9469738	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9469761	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv462902	chr6:34056726-34195011	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv602862	chr6:34056726-34195011	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	esv1816380	chr6:34110880-34206718	Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	20189936	GWAS catalog

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34164600-34166200	Weak transcription	HSMMtube	muscle
2	chr6:34164600-34166200	Enhancers	K562	blood
3	chr6:34164600-34168200	Weak transcription	Hela-S3	cervix
4	chr6:34164600-34168400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:34164600-34170000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:34164800-34168200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:34164800-34168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:34164800-34168200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:34164800-34168200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:34164800-34168200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:34164800-34168200	Weak transcription	Pancreas	Pancrea
12	chr6:34164800-34168400	Weak transcription	Gastric	stomach
13	chr6:34164800-34168400	Weak transcription	NHDF-Ad	bronchial
14	chr6:34164800-34169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:34164800-34169600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:34164800-34169800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:34164800-34169800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:34164800-34169800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:34164800-34169800	Weak transcription	Placenta	Placenta
20	chr6:34164800-34170000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:34164800-34170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:34164800-34172200	Weak transcription	Right Atrium	heart
23	chr6:34165200-34166400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:34165400-34165800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:34165400-34165800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:34165600-34165800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:34165600-34165800	Weak transcription	Lung	lung
28	chr6:34165600-34165800	Bivalent Enhancer	HepG2	liver
29	chr6:34165600-34166000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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