Variant report

Variant	rs7762752
Chromosome Location	chr6:34528340-34528341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr6:34528152-34528596	K562	blood:	n/a	n/a
2	IRF1	chr6:34528258-34528813	K562	blood:	n/a	chr6:34528752-34528766
3	ZNF263	chr6:34528219-34529168	HEK293-T-REx	kidney:	n/a	chr6:34528291-34528300
4	MYC	chr6:34528326-34528575	K562	blood:	n/a	n/a
5	UBTF	chr6:34528201-34528877	K562	blood:	n/a	n/a
6	TBP	chr6:34527805-34528876	K562	blood:	n/a	n/a
7	HDAC2	chr6:34528207-34528980	K562	blood:	n/a	n/a
8	CTCF	chr6:34528327-34529018	K562	blood:	n/a	chr6:34528811-34528824
9	FOXP2	chr6:34528238-34529036	PFSK-1	brain:	n/a	n/a
10	TRIM28	chr6:34528089-34528961	K562	blood:	n/a	n/a
11	GABPA	chr6:34528300-34528801	K562	blood:	n/a	n/a
12	CBX3	chr6:34528238-34529132	K562	blood:	n/a	n/a
13	YY1	chr6:34528315-34528926	HepG2	liver:	n/a	n/a
14	REST	chr6:34528260-34528960	K562	blood:	n/a	chr6:34528853-34528862
15	ZMIZ1	chr6:34528295-34529087	K562	blood:	n/a	n/a
16	GATA2	chr6:34528257-34528695	K562	blood:	n/a	chr6:34528569-34528578 chr6:34528566-34528575
17	MAZ	chr6:34527748-34529101	K562	blood:	n/a	n/a
18	BACH1	chr6:34528081-34528565	K562	blood:	n/a	n/a
19	POLR2A	chr6:34528162-34528720	K562	blood:	n/a	n/a
20	EGR1	chr6:34528296-34528656	K562	blood:	n/a	n/a
21	UBTF	chr6:34528222-34528614	K562	blood:	n/a	n/a
22	STAT5A	chr6:34528179-34528728	K562	blood:	n/a	chr6:34528590-34528598
23	CHD2	chr6:34528258-34528859	K562	blood:	n/a	n/a
24	USF1	chr6:34528225-34528755	K562	blood:	n/a	n/a
25	MAX	chr6:34528202-34528647	K562	blood:	n/a	n/a
26	RCOR1	chr6:34527743-34529167	K562	blood:	n/a	n/a
27	MYC	chr6:34527833-34529102	K562	blood:	n/a	n/a
28	POLR2A	chr6:34528180-34528846	K562	blood:	n/a	n/a
29	HCFC1	chr6:34528219-34529001	K562	blood:	n/a	n/a
30	RCOR1	chr6:34527733-34529183	K562	blood:	n/a	n/a
31	BHLHE40	chr6:34527683-34529135	K562	blood:	n/a	n/a
32	ETS1	chr6:34528276-34528676	K562	blood:	n/a	n/a
33	POLR2A	chr6:34528276-34528664	K562	blood:	n/a	n/a
34	TAF1	chr6:34528253-34528627	K562	blood:	n/a	n/a
35	ZBTB7A	chr6:34528199-34529046	K562	blood:	n/a	n/a
36	GATA2	chr6:34528186-34528712	K562	blood:	n/a	chr6:34528569-34528578 chr6:34528566-34528575
37	HDAC2	chr6:34528284-34528720	HepG2	liver:	n/a	n/a
38	ATF1	chr6:34528256-34528770	K562	blood:	n/a	n/a
39	HDAC2	chr6:34528154-34528840	K562	blood:	n/a	chr6:34528191-34528205
40	CEBPB	chr6:34528245-34528702	K562	blood:	n/a	n/a
41	EGR1	chr6:34528263-34528830	K562	blood:	n/a	n/a
42	POLR2A	chr6:34527512-34529039	K562	blood:	n/a	n/a
43	YY1	chr6:34528285-34528975	K562	blood:	n/a	n/a
44	TAF1	chr6:34528210-34528658	K562	blood:	n/a	n/a
45	E2F6	chr6:34528236-34528785	K562	blood:	n/a	n/a
46	CCNT2	chr6:34528207-34528986	K562	blood:	n/a	chr6:34528756-34528765
47	POLR2A	chr6:34527569-34528871	K562	blood:	n/a	n/a
48	EP300	chr6:34528163-34528689	K562	blood:	n/a	n/a
49	E2F4	chr6:34528220-34529141	K562	blood:	n/a	n/a
50	POLR2A	chr6:34528189-34528770	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:34520436..34525113-chr6:34525166..34530447,6	K562	blood:
2	chr6:34527055..34529917-chr6:34543453..34544974,2	MCF-7	breast:
3	chr6:34527129..34530623-chr6:34530939..34533511,3	K562	blood:
4	chr6:34427383..34427978-chr6:34528004..34528902,2	MCF-7	breast:
5	chr20:52484501..52486317-chr6:34526583..34529198,2	MCF-7	breast:
6	chr6:34496932..34498060-chr6:34528153..34529212,4	MCF-7	breast:
7	chr6:34525385..34526922-chr6:34526989..34528671,2	K562	blood:
8	chr6:34216270..34217861-chr6:34527614..34529829,2	MCF-7	breast:
9	chr6:34527602..34533050-chr6:34533572..34539589,8	K562	blood:
10	chr6:34527129..34529225-chr6:34531595..34533511,2	K562	blood:

No data

Variant related genes	Relation type
SPDEF	TF binding region
ENSG00000186577	Chromatin interaction
ENSG00000124664	Chromatin interaction
ENSG00000196114	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12111029	1.00[ASN][1000 genomes]
rs57106758	1.00[ASN][1000 genomes]
rs58971485	1.00[ASN][1000 genomes]
rs59183825	1.00[ASN][1000 genomes]
rs59240548	1.00[ASN][1000 genomes]
rs60220209	1.00[ASN][1000 genomes]
rs61510762	1.00[ASN][1000 genomes]
rs6913723	1.00[ASN][1000 genomes]
rs6919218	1.00[ASN][1000 genomes]
rs6924259	1.00[ASN][1000 genomes]
rs6931073	1.00[ASN][1000 genomes]
rs6931985	1.00[ASN][1000 genomes]
rs6936924	1.00[ASN][1000 genomes]
rs6938501	1.00[ASN][1000 genomes]
rs6939293	1.00[ASN][1000 genomes]
rs6939783	1.00[ASN][1000 genomes]
rs73409960	1.00[ASN][1000 genomes]
rs73409969	1.00[ASN][1000 genomes]
rs73409978	1.00[ASN][1000 genomes]
rs73409982	1.00[ASN][1000 genomes]
rs73409987	1.00[ASN][1000 genomes]
rs73409995	1.00[ASN][1000 genomes]
rs73409996	1.00[ASN][1000 genomes]
rs73410000	1.00[ASN][1000 genomes]
rs73411915	1.00[ASN][1000 genomes]
rs73411935	1.00[ASN][1000 genomes]
rs73411944	1.00[ASN][1000 genomes]
rs73411956	1.00[ASN][1000 genomes]
rs73411957	1.00[ASN][1000 genomes]
rs73411971	1.00[ASN][1000 genomes]
rs73411982	1.00[ASN][1000 genomes]
rs73411992	1.00[ASN][1000 genomes]
rs73411995	1.00[ASN][1000 genomes]
rs73413804	1.00[ASN][1000 genomes]
rs73413808	1.00[ASN][1000 genomes]
rs73413811	1.00[ASN][1000 genomes]
rs73413812	1.00[ASN][1000 genomes]
rs73413815	1.00[ASN][1000 genomes]
rs73413824	1.00[ASN][1000 genomes]
rs73413828	1.00[ASN][1000 genomes]
rs73413843	1.00[ASN][1000 genomes]
rs73413845	1.00[ASN][1000 genomes]
rs73413847	1.00[ASN][1000 genomes]
rs73413854	1.00[ASN][1000 genomes]
rs73413869	1.00[ASN][1000 genomes]
rs73413870	1.00[ASN][1000 genomes]
rs73413875	1.00[ASN][1000 genomes]
rs73413879	1.00[ASN][1000 genomes]
rs73413885	1.00[ASN][1000 genomes]
rs73746653	1.00[ASN][1000 genomes]
rs7742598	1.00[ASN][1000 genomes]
rs7766657	1.00[ASN][1000 genomes]
rs9942450	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	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
11	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv885790	chr6:34483015-34542662	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv1801907	chr6:34492567-34545860	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv1016788	chr6:34496002-34529165	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
17	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
18	nsv1023870	chr6:34509776-34544041	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
19	nsv1015306	chr6:34509776-34549107	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv1032763	chr6:34509776-34552797	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
21	nsv1025472	chr6:34509776-34555969	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv1021859	chr6:34515436-34535289	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
23	nsv1033534	chr6:34516588-34555969	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
24	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34527400-34528400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:34527400-34528800	Enhancers	Fetal Heart	heart
3	chr6:34527400-34529000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:34527400-34529200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:34527600-34528400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:34527600-34528400	Enhancers	Right Atrium	heart
7	chr6:34527600-34528800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:34527600-34528800	Enhancers	Left Ventricle	heart
9	chr6:34527600-34529000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:34527600-34529000	Enhancers	Right Ventricle	heart
11	chr6:34527600-34529000	Flanking Active TSS	K562	blood
12	chr6:34527600-34529600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:34527600-34529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:34527600-34530400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:34527600-34530400	Enhancers	Gastric	stomach
16	chr6:34527600-34532800	Enhancers	Stomach Mucosa	stomach
17	chr6:34527600-34533800	Enhancers	Placenta	Placenta
18	chr6:34527800-34528400	Enhancers	Esophagus	oesophagus
19	chr6:34527800-34528800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:34527800-34529000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:34527800-34529200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:34528000-34528800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:34528000-34528800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:34528000-34529000	Enhancers	Fetal Intestine Small	intestine
25	chr6:34528000-34529000	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr6:34528000-34529200	Enhancers	A549	lung
27	chr6:34528000-34529400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:34528200-34528800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:34528200-34528800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:34528200-34528800	Enhancers	Fetal Intestine Large	intestine
31	chr6:34528200-34529000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr6:34528200-34529200	Enhancers	NHLF	lung
33	chr6:34528200-34529400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:34528200-34529400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:34528200-34530200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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