Variant report

Variant	rs13213889
Chromosome Location	chr6:33756532-33756533
allele	A/G
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	CREB1	chr6:33756523-33757343	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:33755871-33757080	K562	blood:	n/a	n/a
3	YY1	chr6:33755711-33757699	SK-N-SH	brain:	n/a	chr6:33757002-33757014 chr6:33756132-33756143 chr6:33757003-33757013 chr6:33757003-33757025 chr6:33756966-33756980 chr6:33757006-33757014 chr6:33757002-33757018
4	TCF12	chr6:33755925-33757295	ECC-1	luminal epithelium:	n/a	n/a
5	MAZ	chr6:33754791-33757409	IMR90	lung:	n/a	chr6:33756978-33756987
6	CHD1	chr6:33753489-33757327	IMR90	lung:	n/a	n/a
7	POLR2A	chr6:33754637-33757242	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr6:33755375-33757546	GM12878	blood:	n/a	n/a
9	THAP1	chr6:33756530-33757096	K562	blood:	n/a	n/a
10	CREB1	chr6:33756488-33757323	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:33755402-33757555	GM12892	blood:	n/a	n/a
12	ETS1	chr6:33756513-33757346	K562	blood:	n/a	chr6:33756967-33756978
13	POLR2A	chr6:33755726-33757121	HepG2	liver:	n/a	n/a
14	TAF7	chr6:33756373-33757221	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr6:33756487-33757099	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT5A	chr6:33756444-33757168	GM12878	blood:	n/a	n/a
17	TAF1	chr6:33756491-33757219	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr6:33755608-33757706	HL-60	blood:	n/a	n/a
19	POLR2A	chr6:33754123-33757999	HUVEC	blood vessel:	n/a	n/a
20	HMGN3	chr6:33755984-33757164	K562	blood:	n/a	n/a
21	CTCF	chr6:33756400-33756550	GM12870	blood:	n/a	n/a
22	YY1	chr6:33756225-33757612	K562	blood:	n/a	chr6:33757002-33757014 chr6:33757003-33757013 chr6:33757003-33757025 chr6:33756966-33756980 chr6:33757006-33757014 chr6:33757002-33757018
23	MXI1	chr6:33755951-33757227	HepG2	liver:	n/a	n/a
24	MAX	chr6:33755692-33757692	HepG2	liver:	n/a	chr6:33756978-33756987
25	POLR2A	chr6:33754585-33758231	HepG2	liver:	n/a	n/a
26	ZNF263	chr6:33755920-33757230	HEK293-T-REx	kidney:	n/a	n/a
27	KAP1	chr6:33756301-33757428	HEK293	kidney:	n/a	n/a
28	YY1	chr6:33755941-33757702	K562	blood:	n/a	chr6:33757002-33757014 chr6:33756132-33756143 chr6:33757003-33757013 chr6:33757003-33757025 chr6:33756966-33756980 chr6:33757006-33757014 chr6:33757002-33757018
29	ELF1	chr6:33755695-33757292	GM12878	blood:	n/a	n/a
30	HCFC1	chr6:33755934-33757398	K562	blood:	n/a	n/a
31	NFIC	chr6:33756442-33757316	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr6:33755817-33757155	K562	blood:	n/a	chr6:33756978-33756987
33	CHD1	chr6:33756289-33757232	GM12878	blood:	n/a	n/a
34	SIN3AK20	chr6:33755654-33757069	K562	blood:	n/a	n/a
35	POLR2A	chr6:33755761-33757123	GM19099	blood:	n/a	n/a
36	HEY1	chr6:33756473-33757101	K562	blood:	n/a	chr6:33756952-33756967
37	MAZ	chr6:33755716-33757226	K562	blood:	n/a	chr6:33756978-33756987
38	POLR2A	chr6:33756519-33757753	GM12892	blood:	n/a	n/a
39	SIN3A	chr6:33756515-33757120	GM12878	blood:	n/a	chr6:33756961-33756972
40	POLR2A	chr6:33755392-33757228	K562	blood:	n/a	n/a
41	POLR2A	chr6:33755800-33757183	GM18505	blood:	n/a	n/a
42	POLR2A	chr6:33755421-33757205	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr6:33756071-33756572	K562	blood:	n/a	n/a
44	CHD1	chr6:33756488-33756896	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr6:33755673-33757440	HepG2	liver:	n/a	n/a
46	TBP	chr6:33756506-33757206	K562	blood:	n/a	n/a
47	POLR2A	chr6:33755766-33757599	GM12891	blood:	n/a	n/a
48	ELF1	chr6:33756496-33757219	MCF-7	breast:	n/a	n/a
49	POLR2A	chr6:33755750-33757207	ProgFib	skin:	n/a	n/a
50	MXI1	chr6:33755798-33757228	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33677680..33679812-chr6:33755384..33758328,2	MCF-7	breast:
2	chr6:33677771..33685795-chr6:33753004..33758704,10	MCF-7	breast:
3	chr6:33755468..33757115-chr6:34205033..34207556,2	MCF-7	breast:
4	chr6:33754851..33757425-chr6:33862551..33864997,3	MCF-7	breast:
5	chr6:33743352..33745913-chr6:33755354..33756938,3	MCF-7	breast:
6	chr6:33678014..33680671-chr6:33755515..33757218,2	K562	blood:
7	chr6:33550386..33552584-chr6:33755194..33756833,2	MCF-7	breast:

Variant related genes	Relation type
LEMD2	TF binding region
ENSG00000204188	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000161904	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000249346	Chromatin interaction

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

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

rs_ID	r²[population]
rs10456420	0.97[EUR][1000 genomes]
rs10456421	0.91[EUR][1000 genomes]
rs12153877	0.95[EUR][1000 genomes]
rs12189725	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12192035	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12192087	0.89[EUR][1000 genomes]
rs12193658	0.85[EUR][1000 genomes]
rs12195409	0.97[EUR][1000 genomes]
rs12198383	0.92[EUR][1000 genomes]
rs12199132	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203688	0.83[ASN][1000 genomes]
rs12204620	0.97[EUR][1000 genomes]
rs12204992	0.97[EUR][1000 genomes]
rs12205398	0.83[ASN][1000 genomes]
rs12211490	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12211554	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12211565	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12215329	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12660955	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12661400	0.83[ASN][1000 genomes]
rs12662447	0.85[EUR][1000 genomes]
rs13200063	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13204162	0.83[ASN][1000 genomes]
rs13206228	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13207666	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2274459	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2281831	0.83[ASN][1000 genomes]
rs2296749	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34139049	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34339105	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34460651	0.96[EUR][1000 genomes]
rs34472165	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34869648	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34884883	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35274562	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35328423	0.86[EUR][1000 genomes]
rs35366046	0.89[EUR][1000 genomes]
rs35445446	0.91[EUR][1000 genomes]
rs35646598	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35698850	0.83[ASN][1000 genomes]
rs35721478	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35797388	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35964955	0.80[EUR][1000 genomes]
rs36122085	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3793080	0.94[EUR][1000 genomes]
rs3806107	0.94[EUR][1000 genomes]
rs66617522	0.92[EUR][1000 genomes]
rs66670017	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68168863	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6925337	0.92[EUR][1000 genomes]
rs729376	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs751095	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs755239	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs877187	0.85[EUR][1000 genomes];0.86[ASN][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	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription 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	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3436027	chr6:33754374-33758772	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 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	chr6:33755400-33756600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:33755400-33757000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:33755600-33757000	Active TSS	Ovary	ovary
4	chr6:33755600-33757200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:33755600-33757400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:33755800-33757000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:33755800-33757000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:33755800-33757000	Active TSS	Aorta	Aorta
9	chr6:33755800-33757000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:33755800-33757000	Active TSS	Fetal Kidney	kidney
11	chr6:33755800-33757000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:33755800-33757000	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr6:33755800-33757000	Active TSS	Small Intestine	intestine
14	chr6:33755800-33757000	Active TSS	HepG2	liver
15	chr6:33755800-33757200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:33755800-33757200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:33755800-33757200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:33755800-33757200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:33755800-33757200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:33755800-33757200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:33755800-33757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:33755800-33757200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:33755800-33757200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:33755800-33757200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr6:33755800-33757200	Active TSS	Fetal Intestine Large	intestine
26	chr6:33755800-33757200	Active TSS	Fetal Intestine Small	intestine
27	chr6:33755800-33757200	Active TSS	Left Ventricle	heart
28	chr6:33755800-33757200	Active TSS	Lung	lung
29	chr6:33755800-33757200	Active TSS	Thymus	Thymus
30	chr6:33755800-33757200	Active TSS	A549	lung
31	chr6:33755800-33757200	Active TSS	GM12878-XiMat	blood
32	chr6:33755800-33757200	Active TSS	HSMM	muscle
33	chr6:33755800-33757200	Active TSS	HSMMtube	muscle
34	chr6:33755800-33757200	Active TSS	NH-A	brain
35	chr6:33755800-33757200	Active TSS	NHDF-Ad	bronchial
36	chr6:33755800-33757400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:33755800-33757400	Active TSS	Gastric	stomach
38	chr6:33755800-33757400	Active TSS	Psoas Muscle	Psoas
39	chr6:33755800-33757600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:33756000-33756600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:33756000-33756800	Active TSS	Placenta	Placenta
42	chr6:33756000-33757000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:33756000-33757000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:33756000-33757000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:33756000-33757000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:33756000-33757000	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr6:33756000-33757000	Active TSS	Primary T cells fromperipheralblood	blood
48	chr6:33756000-33757000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:33756000-33757000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:33756000-33757000	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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