Variant report

Variant	rs59719562
Chromosome Location	chr6:34527949-34527950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:34527805-34528876	K562	blood:	n/a	n/a
2	MAZ	chr6:34527748-34529101	K562	blood:	n/a	n/a
3	RCOR1	chr6:34527743-34529167	K562	blood:	n/a	n/a
4	MYC	chr6:34527833-34529102	K562	blood:	n/a	n/a
5	RCOR1	chr6:34527733-34529183	K562	blood:	n/a	n/a
6	BHLHE40	chr6:34527683-34529135	K562	blood:	n/a	n/a
7	POLR2A	chr6:34527512-34529039	K562	blood:	n/a	n/a
8	POLR2A	chr6:34527569-34528871	K562	blood:	n/a	n/a
9	EP300	chr6:34527579-34528979	K562	blood:	n/a	n/a
10	UBTF	chr6:34527786-34527960	K562	blood:	n/a	n/a
11	JUND	chr6:34527774-34527969	K562	blood:	n/a	n/a
12	NR2F2	chr6:34527343-34529374	K562	blood:	n/a	n/a
13	EP300	chr6:34527881-34528001	GM12878	blood:	n/a	n/a
14	TAL1	chr6:34527718-34529123	K562	blood:	n/a	chr6:34528237-34528246 chr6:34528618-34528627

No data

(count:8 , 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	chr20:52484501..52486317-chr6:34526583..34529198,2	MCF-7	breast:
5	chr6:34525385..34526922-chr6:34526989..34528671,2	K562	blood:
6	chr6:34216270..34217861-chr6:34527614..34529829,2	MCF-7	breast:
7	chr6:34527602..34533050-chr6:34533572..34539589,8	K562	blood:
8	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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1886980	1.00[AFR][1000 genomes]
rs3778069	0.81[AFR][1000 genomes]
rs55660517	1.00[AFR][1000 genomes]
rs56172934	1.00[AFR][1000 genomes]
rs57705887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57769323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58264490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58302579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59428262	1.00[AFR][1000 genomes]
rs59736988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59738570	0.93[AFR][1000 genomes]
rs60196871	0.93[AFR][1000 genomes]
rs60214378	1.00[AMR][1000 genomes]
rs6910822	0.88[AFR][1000 genomes]
rs6935147	1.00[AFR][1000 genomes]
rs73745005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73745006	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73746683	0.95[AFR][1000 genomes]
rs73746688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7759185	1.00[AFR][1000 genomes]
rs7763757	1.00[AFR][1000 genomes]
rs913016	1.00[AFR][1000 genomes];1.00[AMR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34524400-34528200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:34526800-34528200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:34527400-34528000	Bivalent Enhancer	HepG2	liver
4	chr6:34527400-34528400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:34527400-34528800	Enhancers	Fetal Heart	heart
6	chr6:34527400-34529000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:34527400-34529200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:34527600-34528200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:34527600-34528400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:34527600-34528400	Enhancers	Right Atrium	heart
11	chr6:34527600-34528800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:34527600-34528800	Enhancers	Left Ventricle	heart
13	chr6:34527600-34529000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:34527600-34529000	Enhancers	Right Ventricle	heart
15	chr6:34527600-34529000	Flanking Active TSS	K562	blood
16	chr6:34527600-34529600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:34527600-34529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:34527600-34530400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:34527600-34530400	Enhancers	Gastric	stomach
20	chr6:34527600-34532800	Enhancers	Stomach Mucosa	stomach
21	chr6:34527600-34533800	Enhancers	Placenta	Placenta
22	chr6:34527800-34528000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:34527800-34528200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:34527800-34528400	Enhancers	Esophagus	oesophagus
25	chr6:34527800-34528800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:34527800-34529000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:34527800-34529200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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