Variant report

Variant	rs60754257
Chromosome Location	chr6:34687854-34687855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34665467..34667075-chr6:34685677..34688380,2	K562	blood:
2	chr6:34681902..34684168-chr6:34685297..34688228,3	K562	blood:
3	chr6:34673308..34675540-chr6:34685613..34688342,2	MCF-7	breast:
4	chr6:34685141..34688900-chr6:34692903..34695756,4	K562	blood:
5	chr6:34657888..34660088-chr6:34685697..34688432,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186328	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1125342	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16894102	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16894945	0.82[EUR][1000 genomes]
rs16894995	0.82[EUR][1000 genomes]
rs1964810	0.81[EUR][1000 genomes]
rs2236392	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2744953	0.83[ASN][1000 genomes]
rs2764199	0.83[ASN][1000 genomes]
rs2764200	0.82[ASN][1000 genomes]
rs2814954	0.85[ASN][1000 genomes]
rs2814965	0.91[ASN][1000 genomes]
rs3736896	0.87[ASN][1000 genomes]
rs3777751	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3798349	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3798351	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800447	0.81[EUR][1000 genomes]
rs3800455	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800456	0.90[ASN][1000 genomes]
rs41438444	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4711399	0.80[ASN][1000 genomes]
rs4713823	0.82[ASN][1000 genomes]
rs56825685	0.82[EUR][1000 genomes]
rs56842618	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56987113	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57338415	0.82[EUR][1000 genomes]
rs57637041	0.82[EUR][1000 genomes]
rs57645599	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57916801	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58643640	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58654146	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58817410	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58833137	0.80[EUR][1000 genomes]
rs59014029	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59851773	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59884600	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59952325	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60410089	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60439875	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6906500	0.84[ASN][1000 genomes]
rs6932930	0.82[ASN][1000 genomes]
rs6939345	0.87[ASN][1000 genomes]
rs73413893	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73415706	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73415742	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73415758	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73415760	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73415779	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73415781	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73417752	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73417786	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419615	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73419643	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73419650	0.84[EUR][1000 genomes]
rs73419656	0.82[EUR][1000 genomes]
rs73419658	0.82[EUR][1000 genomes]
rs73419660	0.82[EUR][1000 genomes]
rs73419689	0.85[EUR][1000 genomes]
rs7739335	0.82[ASN][1000 genomes]
rs7751664	0.81[ASN][1000 genomes]
rs7752237	0.88[ASN][1000 genomes]
rs7772600	0.90[ASN][1000 genomes]
rs9296126	0.90[ASN][1000 genomes]
rs9368829	0.87[ASN][1000 genomes]
rs9380451	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv508401	chr6:34669708-34710302	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34683800-34688000	Weak transcription	Stomach Mucosa	stomach
2	chr6:34685600-34688200	Weak transcription	HSMM	muscle
3	chr6:34685600-34691000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:34685600-34691200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:34686800-34688400	Enhancers	K562	blood
6	chr6:34687000-34688400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:34687200-34688200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:34687200-34688200	Weak transcription	Fetal Intestine Large	intestine
9	chr6:34687200-34688200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:34687200-34688200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:34687200-34688400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:34687200-34688600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:34687200-34689000	Enhancers	Placenta	Placenta
14	chr6:34687200-34691000	Weak transcription	HSMMtube	muscle
15	chr6:34687200-34691200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:34687400-34688000	Enhancers	Hela-S3	cervix
17	chr6:34687400-34688200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:34687400-34688200	Weak transcription	Fetal Heart	heart
19	chr6:34687400-34688400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:34687400-34688400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:34687400-34688400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:34687400-34688600	Enhancers	NHEK	skin
23	chr6:34687400-34689000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:34687400-34690400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:34687400-34690800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:34687400-34691000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:34687400-34691000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:34687400-34691000	Weak transcription	HMEC	breast
29	chr6:34687400-34691000	Weak transcription	Osteobl	bone
30	chr6:34687600-34688000	Weak transcription	A549	lung
31	chr6:34687600-34688000	Weak transcription	HepG2	liver
32	chr6:34687600-34688200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:34687600-34688200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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