Variant report

Variant	rs1569459
Chromosome Location	chr6:166795621-166795622
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr6:166795317-166795644	H1-hESC	embryonic stem cell:	n/a	chr6:166795366-166795373 chr6:166795524-166795531
2	POLR2A	chr6:166795215-166797378	K562	blood:	n/a	n/a
3	ZBTB7A	chr6:166795347-166797515	ECC-1	luminal epithelium:	n/a	chr6:166796136-166796144
4	MAZ	chr6:166795403-166795686	Hela-S3	cervix:	n/a	n/a
5	MAZ	chr6:166795132-166797512	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
6	HDAC2	chr6:166795365-166795752	K562	blood:	n/a	n/a
7	ZNF143	chr6:166795251-166795654	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr6:166795170-166797425	K562	blood:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
9	ZBTB7A	chr6:166795332-166797300	K562	blood:	n/a	chr6:166796136-166796144
10	KAP1	chr6:166795251-166795838	HEK293	kidney:	n/a	n/a
11	ZBTB7A	chr6:166795310-166796512	K562	blood:	n/a	chr6:166796136-166796144
12	CTCF	chr6:166795330-166795950	Fibrobl	skin:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
13	CTCF	chr6:166795346-166795647	H1-hESC	embryonic stem cell:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
14	NFIC	chr6:166794941-166795767	GM12878	blood:	n/a	n/a
15	YY1	chr6:166795320-166795664	ECC-1	luminal epithelium:	n/a	n/a
16	CHD2	chr6:166795231-166795797	GM12878	blood:	n/a	n/a
17	CTCF	chr6:166795260-166796111	K562	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
18	TCF12	chr6:166795169-166795862	ECC-1	luminal epithelium:	n/a	chr6:166795366-166795373 chr6:166795524-166795531
19	SIN3AK20	chr6:166795056-166797610	HCT-116	colon:	n/a	n/a
20	CTCF	chr6:166795337-166795640	GM10266	blood:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
21	RAD21	chr6:166795149-166795730	HepG2	liver:	n/a	chr6:166795473-166795487
22	ATF2	chr6:166795205-166795713	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:166795164-166795652	GM12892	blood:	n/a	n/a
24	YY1	chr6:166795336-166795642	HCT-116	colon:	n/a	n/a
25	RAD21	chr6:166795193-166795640	GM12878	blood:	n/a	chr6:166795473-166795487
26	RELA	chr6:166795011-166795762	GM19099	blood:	n/a	n/a
27	TBP	chr6:166795212-166795896	K562	blood:	n/a	n/a
28	POLR2A	chr6:166795157-166798107	HepG2	liver:	n/a	n/a
29	TCF12	chr6:166795300-166795651	GM12878	blood:	n/a	chr6:166795366-166795373 chr6:166795524-166795531
30	POLR2A	chr6:166795236-166795654	K562	blood:	n/a	n/a
31	MTA3	chr6:166795136-166795769	GM12878	blood:	n/a	n/a
32	SIN3A	chr6:166795266-166797408	GM12878	blood:	n/a	chr6:166796646-166796659 chr6:166796181-166796194 chr6:166796912-166796921
33	ZNF384	chr6:166794539-166795778	K562	blood:	n/a	n/a
34	CTCF	chr6:166795074-166795766	HCT-116	colon:	n/a	chr6:166795471-166795489 chr6:166795473-166795486 chr6:166795473-166795486
35	USF2	chr6:166795402-166795670	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr6:166795156-166797691	HepG2	liver:	n/a	n/a
37	FOXM1	chr6:166795173-166795691	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:166795182-166796062	GM12892	blood:	n/a	n/a
39	GABPA	chr6:166795277-166795638	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr6:166795204-166795744	A549	lung:	n/a	n/a
41	ZEB1	chr6:166795317-166795793	GM12878	blood:	n/a	chr6:166795522-166795533
42	BHLHE40	chr6:166795239-166795687	GM12878	blood:	n/a	n/a
43	BCLAF1	chr6:166795172-166795686	GM12878	blood:	n/a	chr6:166795474-166795487
44	HEY1	chr6:166795235-166795771	K562	blood:	n/a	n/a
45	MBD4	chr6:166795014-166795696	HepG2	liver:	n/a	n/a
46	ELF1	chr6:166795228-166795647	K562	blood:	n/a	n/a
47	JUND	chr6:166794646-166795669	K562	blood:	n/a	n/a
48	MAZ	chr6:166795213-166797490	IMR90	lung:	n/a	chr6:166796913-166796922 chr6:166796910-166796920 chr6:166796909-166796924 chr6:166796911-166796921 chr6:166796907-166796922
49	ZNF263	chr6:166795475-166797140	K562	blood:	n/a	chr6:166796590-166796599
50	HDAC2	chr6:166795250-166795774	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:
2	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
3	chr6:166726357..166727438-chr6:166794885..166795636,3	K562	blood:
4	chr6:166754173..166757774-chr6:166795355..166798060,3	MCF-7	breast:
5	chr6:166726860..166727411-chr6:166795185..166795905,2	MCF-7	breast:
6	chr6:166744077..166744772-chr6:166795075..166795860,2	MCF-7	breast:
7	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
8	chr6:166689127..166689809-chr6:166795241..166795961,2	K562	blood:
9	chr6:166383156..166385383-chr6:166793262..166795662,2	K562	blood:
10	chr6:166743853..166744743-chr6:166794927..166795865,3	K562	blood:

Variant related genes	Relation type
ENSG00000261420	TF binding region
ENSG00000198818	Chromatin interaction
ENSG00000233231	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1546853	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546854	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1546855	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1569460	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1569461	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1977049	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977050	0.98[EUR][1000 genomes]
rs1977051	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1977052	0.98[EUR][1000 genomes]
rs1977053	0.96[EUR][1000 genomes]
rs1977054	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1977056	0.90[EUR][1000 genomes]
rs1997661	0.85[ASN][1000 genomes]
rs2179177	0.93[EUR][1000 genomes]
rs2343591	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3734605	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3757194	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757195	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305699	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4710043	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456078	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6456079	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6456081	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902813	0.85[ASN][1000 genomes]
rs6905635	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6906844	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912695	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6918091	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6918135	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735297	0.85[ASN][1000 genomes]
rs7449629	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744743	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7752716	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9283865	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295338	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9295341	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295342	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295343	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295344	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9295345	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348123	0.92[EUR][1000 genomes]
rs9348124	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348125	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348126	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9355574	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9355575	0.93[EUR][1000 genomes]
rs9356482	0.98[EUR][1000 genomes]
rs9356483	0.97[EUR][1000 genomes]
rs9364845	0.95[EUR][1000 genomes]
rs9364846	0.93[EUR][1000 genomes]
rs9364847	0.94[EUR][1000 genomes]
rs9364848	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366009	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366010	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv3376653	chr6:166783590-166798116	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3422353	chr6:166794787-166797335	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3329582	chr6:166795187-166797735	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3340680	chr6:166795587-166798135	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166794400-166796400	Active TSS	Right Atrium	heart
2	chr6:166794400-166797600	Active TSS	GM12878-XiMat	blood
3	chr6:166794400-166797800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:166794400-166798000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:166794600-166796000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr6:166794600-166796000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:166794600-166796000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:166794600-166797600	Active TSS	Psoas Muscle	Psoas
9	chr6:166794600-166797600	Active TSS	Right Ventricle	heart
10	chr6:166794600-166797800	Active TSS	Brain Angular Gyrus	brain
11	chr6:166794600-166797800	Active TSS	NHEK	skin
12	chr6:166794800-166796000	Active TSS	Fetal Heart	heart
13	chr6:166794800-166796000	Flanking Active TSS	NH-A	brain
14	chr6:166794800-166796200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr6:166794800-166796200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:166794800-166796400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr6:166794800-166797200	Active TSS	Fetal Stomach	stomach
18	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
19	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
25	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
26	chr6:166794800-166797600	Active TSS	K562	blood
27	chr6:166794800-166797600	Active TSS	NHLF	lung
28	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
32	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
33	chr6:166795000-166795800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:166795000-166796000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:166795000-166797200	Active TSS	Primary B cells from peripheral blood	blood
36	chr6:166795000-166797200	Active TSS	Fetal Lung	lung
37	chr6:166795000-166797200	Active TSS	Dnd41	blood
38	chr6:166795000-166797400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr6:166795000-166797400	Active TSS	Fetal Muscle Trunk	muscle
40	chr6:166795000-166797400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:166795000-166797600	Active TSS	Aorta	Aorta
44	chr6:166795000-166797600	Active TSS	Ovary	ovary
45	chr6:166795000-166797600	Active TSS	A549	lung
46	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
47	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine

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