Variant report

Variant	rs756137
Chromosome Location	chr6:33755890-33755891
allele	A/C/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	RUNX3	chr6:33755653-33756340	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:33754660-33756447	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr6:33755871-33757080	K562	blood:	n/a	n/a
4	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
5	MAZ	chr6:33754791-33757409	IMR90	lung:	n/a	chr6:33756978-33756987
6	POLR2A	chr6:33755036-33756338	PANC-1	pancreas:	n/a	n/a
7	CHD1	chr6:33753489-33757327	IMR90	lung:	n/a	n/a
8	POLR2A	chr6:33754637-33757242	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr6:33755375-33757546	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:33755859-33756325	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:33754307-33756475	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr6:33755770-33756323	H1-neurons	neurons:	n/a	n/a
13	MAX	chr6:33755863-33756433	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr6:33755402-33757555	GM12892	blood:	n/a	n/a
15	FOXA1	chr6:33755490-33756178	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:33755726-33757121	HepG2	liver:	n/a	n/a
17	RUNX3	chr6:33755605-33756281	GM12878	blood:	n/a	n/a
18	TBP	chr6:33755702-33756238	H1-hESC	embryonic stem cell:	n/a	n/a
19	GABPA	chr6:33755631-33756323	MCF-7	breast:	n/a	chr6:33756135-33756149 chr6:33756138-33756152
20	GABPA	chr6:33755787-33756308	A549	lung:	n/a	chr6:33756135-33756149 chr6:33756138-33756152
21	POLR2A	chr6:33755554-33756478	GM12892	blood:	n/a	n/a
22	NR2F2	chr6:33755548-33755989	K562	blood:	n/a	n/a
23	POLR2A	chr6:33755608-33757706	HL-60	blood:	n/a	n/a
24	PBX3	chr6:33755787-33755950	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:33754123-33757999	HUVEC	blood vessel:	n/a	n/a
26	SMC3	chr6:33755818-33755910	K562	blood:	n/a	n/a
27	YY1	chr6:33755721-33756268	SK-N-SH_RA	brain:	n/a	chr6:33756132-33756143
28	BHLHE40	chr6:33755790-33756195	GM12878	blood:	n/a	n/a
29	GATA2	chr6:33755336-33756232	HUVEC	blood vessel:	n/a	chr6:33755580-33755593 chr6:33755582-33755591
30	ETS1	chr6:33755754-33756229	GM12878	blood:	n/a	chr6:33756062-33756071 chr6:33756062-33756071 chr6:33756062-33756071 chr6:33756063-33756073 chr6:33756059-33756074 chr6:33756062-33756071 chr6:33756058-33756074 chr6:33756062-33756071 chr6:33756062-33756073
31	MAX	chr6:33755692-33757692	HepG2	liver:	n/a	chr6:33756978-33756987
32	POLR2A	chr6:33754585-33758231	HepG2	liver:	n/a	n/a
33	SPI1	chr6:33755697-33756126	HL-60	blood:	n/a	chr6:33755847-33755854
34	POLR2A	chr6:33755761-33756375	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr6:33755797-33756438	MCF-7	breast:	n/a	n/a
36	POLR2A	chr6:33755828-33756355	SK-N-SH	brain:	n/a	n/a
37	ELF1	chr6:33755695-33757292	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:33755856-33756291	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr6:33755817-33757155	K562	blood:	n/a	chr6:33756978-33756987
40	POLR2A	chr6:33755784-33756270	GM12891	blood:	n/a	n/a
41	GABPA	chr6:33755757-33756322	A549	lung:	n/a	chr6:33756135-33756149 chr6:33756138-33756152
42	SIN3AK20	chr6:33755654-33757069	K562	blood:	n/a	n/a
43	POLR2A	chr6:33755761-33757123	GM19099	blood:	n/a	n/a
44	EP300	chr6:33755638-33755964	K562	blood:	n/a	n/a
45	YY1	chr6:33755879-33756310	SK-N-SH_RA	brain:	n/a	chr6:33756132-33756143
46	MAZ	chr6:33755716-33757226	K562	blood:	n/a	chr6:33756978-33756987
47	SIN3AK20	chr6:33755771-33756235	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:33755825-33756357	GM18526	blood:	n/a	n/a
49	POLR2A	chr6:33755392-33757228	K562	blood:	n/a	n/a
50	POLR2A	chr6:33755800-33757183	GM18505	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	chr17:48943386..48944014-chr6:33755667..33756340,2	Hela-S3	cervix:
8	chr6:33550386..33552584-chr6:33755194..33756833,2	MCF-7	breast:
9	chr6:33755622..33756350-chr7:25164616..25165317,2	Hela-S3	cervix:

Variant related genes	Relation type
LEMD2	TF binding region
ENSG00000249346	Chromatin interaction
ENSG00000161904	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000141232	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11752297	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1359781	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2013365	0.91[EUR][1000 genomes]
rs2013381	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2281816	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2296743	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2296746	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2296747	0.92[EUR][1000 genomes]
rs2296748	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2395449	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3763260	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs3793079	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3806108	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3806109	0.84[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3806110	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4342423	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4607416	0.85[JPT][hapmap]
rs4711351	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4713681	0.92[EUR][1000 genomes]
rs4713682	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4713683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713684	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4713686	0.81[JPT][hapmap]
rs6904991	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6920075	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6925273	0.89[EUR][1000 genomes]
rs747695	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs751726	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs751728	0.92[EUR][1000 genomes]
rs755496	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs767895	0.84[CHB][hapmap]
rs9380374	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs9380378	0.90[EUR][1000 genomes]
rs9394165	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9394166	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9394168	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs943477	0.92[AMR][1000 genomes];0.94[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	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	chr6:33753000-33756000	Flanking Active TSS	HUVEC	blood vessel
2	chr6:33754000-33756000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:33754200-33756400	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr6:33754400-33756000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr6:33754400-33756000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr6:33754400-33756200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:33754400-33756200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:33754600-33756000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:33754600-33756000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:33754600-33756000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr6:33754600-33756000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:33754600-33756000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:33754800-33756000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:33754800-33756000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr6:33754800-33756000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:33754800-33756000	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr6:33754800-33756000	Flanking Active TSS	Hela-S3	cervix
18	chr6:33754800-33756000	Flanking Active TSS	NHLF	lung
19	chr6:33754800-33756200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:33754800-33756200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr6:33755000-33756000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:33755000-33756000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr6:33755000-33756000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:33755000-33756000	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr6:33755000-33756000	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr6:33755000-33756000	Flanking Active TSS	HMEC	breast
27	chr6:33755000-33756000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:33755000-33756000	Flanking Active TSS	NHEK	skin
29	chr6:33755000-33756000	Flanking Active TSS	Osteobl	bone
30	chr6:33755000-33756200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr6:33755000-33756200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:33755200-33756000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr6:33755200-33756000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:33755200-33756000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:33755200-33756000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr6:33755200-33756000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:33755200-33756000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr6:33755200-33756000	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
39	chr6:33755200-33756000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:33755200-33756000	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr6:33755200-33756000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr6:33755200-33756000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:33755200-33756200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:33755200-33756200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:33755200-33756200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:33755200-33756200	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr6:33755200-33756200	Flanking Active TSS	Fetal Brain Male	brain
48	chr6:33755200-33756200	Flanking Active TSS	Fetal Brain Female	brain
49	chr6:33755400-33756000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:33755400-33756000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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