Variant report

Variant	rs2272067
Chromosome Location	chr11:33796413-33796414
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	POLR2A	chr11:33795818-33796662	GM12878	blood:	n/a	n/a
2	MXI1	chr11:33794764-33797035	SK-N-SH	brain:	n/a	chr11:33795490-33795499
3	HCFC1	chr11:33794953-33797412	Hela-S3	cervix:	n/a	n/a
4	EBF1	chr11:33796103-33796443	GM12878	blood:	n/a	chr11:33796190-33796201 chr11:33796191-33796200
5	HMGN3	chr11:33795457-33796603	K562	blood:	n/a	n/a
6	TAF1	chr11:33795628-33796444	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr11:33795572-33796514	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:33795759-33796585	ProgFib	skin:	n/a	n/a
9	POLR2A	chr11:33795703-33796469	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:33795621-33796812	SK-N-MC	brain:	n/a	n/a
11	TAF1	chr11:33795870-33796443	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:33795378-33796439	GM18505	blood:	n/a	n/a
13	MAFK	chr11:33796256-33796740	IMR90	lung:	n/a	n/a
14	CEBPB	chr11:33795929-33796434	MCF-7	breast:	n/a	chr11:33796330-33796341
15	REST	chr11:33795347-33796672	H1-neurons	neurons:	n/a	chr11:33795620-33795633 chr11:33795727-33795740
16	POLR2A	chr11:33795564-33796413	PFSK-1	brain:	n/a	n/a
17	YY1	chr11:33795345-33796467	HepG2	liver:	n/a	chr11:33796033-33796053
18	POLR2A	chr11:33795821-33796439	U87	brain:	n/a	n/a
19	POLR2A	chr11:33795593-33796604	GM19193	blood:	n/a	n/a
20	POLR2A	chr11:33795790-33796444	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr11:33795656-33796938	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:33795638-33796541	U87	brain:	n/a	n/a
23	MAX	chr11:33794828-33796614	A549	lung:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
24	TAF1	chr11:33795816-33796453	SK-N-SH	brain:	n/a	n/a
25	JUND	chr11:33796221-33796492	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:33795779-33796432	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr11:33795447-33796442	H1-hESC	embryonic stem cell:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
28	POLR2A	chr11:33795658-33796452	GM15510	blood:	n/a	n/a
29	ZBTB7A	chr11:33795264-33796461	ECC-1	luminal epithelium:	n/a	n/a
30	MAZ	chr11:33794961-33796438	GM12878	blood:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
31	MAZ	chr11:33795518-33796484	HepG2	liver:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
32	MAFK	chr11:33796362-33796723	K562	blood:	n/a	n/a
33	POLR2A	chr11:33795632-33796492	GM18951	blood:	n/a	n/a
34	E2F6	chr11:33796062-33796576	A549	lung:	n/a	chr11:33796201-33796210
35	STAT1	chr11:33796117-33796456	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:33795386-33796486	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr11:33795549-33796453	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr11:33795556-33796430	GM12892	blood:	n/a	n/a
39	CHD2	chr11:33796025-33796436	K562	blood:	n/a	n/a
40	SIN3AK20	chr11:33796089-33796498	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr11:33795738-33796541	HUVEC	blood vessel:	n/a	n/a
42	MAX	chr11:33795974-33796488	SK-N-SH	brain:	n/a	chr11:33796160-33796170
43	POLR2A	chr11:33795773-33796441	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr11:33796097-33796420	H1-hESC	embryonic stem cell:	n/a	n/a
45	RCOR1	chr11:33795796-33796491	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:33795658-33796591	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr11:33796116-33796491	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:33795810-33796561	GM19099	blood:	n/a	n/a
49	TAF1	chr11:33795480-33796528	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:33795844-33796444	GM10847	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:201979413..201979986-chr11:33795913..33796432,2	HCT-116	colon:
2	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
3	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:
4	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
5	chr11:33720701..33723094-chr11:33794886..33797220,2	MCF-7	breast:

Variant related genes	Relation type
FBXO3	TF binding region
ENSG00000255272	TF binding region
ENSG00000163435	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000234678	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1000677	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs10836113	0.95[EUR][1000 genomes]
rs11032376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032379	0.97[EUR][1000 genomes]
rs11032382	0.97[EUR][1000 genomes]
rs11032396	0.95[EUR][1000 genomes]
rs12576094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464485	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17038	0.80[JPT][hapmap]
rs1915891	0.92[EUR][1000 genomes]
rs2140067	0.97[EUR][1000 genomes]
rs2177121	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2177122	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4756033	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs57800019	0.89[EUR][1000 genomes]
rs6484666	0.88[CEU][hapmap]
rs6484672	0.80[JPT][hapmap]
rs72638193	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950864	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs869904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33794600-33796600	Active TSS	A549	lung
2	chr11:33794600-33796800	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:33794800-33796600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:33794800-33796800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:33795000-33796600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:33795000-33796600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:33795000-33796600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:33795000-33796600	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr11:33795000-33796600	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr11:33795000-33796600	Active TSS	Brain Angular Gyrus	brain
11	chr11:33795000-33796600	Active TSS	Gastric	stomach
12	chr11:33795000-33796600	Active TSS	Placenta Amnion	Placenta Amnion
13	chr11:33795000-33796800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:33795000-33796800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:33795000-33796800	Active TSS	Right Atrium	heart
16	chr11:33795000-33797000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:33795000-33797000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:33795000-33797000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:33795000-33797000	Active TSS	Ovary	ovary
20	chr11:33795000-33797200	Active TSS	Aorta	Aorta
21	chr11:33795200-33796600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:33795200-33796600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:33795200-33796600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:33795200-33796600	Active TSS	Brain Anterior Caudate	brain
25	chr11:33795200-33796600	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:33795200-33796600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:33795200-33796600	Active TSS	Brain Substantia Nigra	brain
28	chr11:33795200-33796600	Active TSS	Fetal Heart	heart
29	chr11:33795200-33796600	Active TSS	Lung	lung
30	chr11:33795200-33796600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:33795200-33796600	Active TSS	Spleen	Spleen
32	chr11:33795200-33796600	Active TSS	HSMMtube	muscle
33	chr11:33795200-33796600	Active TSS	NHDF-Ad	bronchial
34	chr11:33795200-33796600	Active TSS	NHLF	lung
35	chr11:33795200-33796800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:33795200-33796800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr11:33795200-33796800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:33795200-33796800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:33795200-33796800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:33795200-33796800	Active TSS	Small Intestine	intestine
41	chr11:33795200-33797000	Active TSS	Fetal Brain Male	brain
42	chr11:33795400-33796600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:33795400-33796600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:33795400-33796600	Active TSS	Colon Smooth Muscle	Colon
45	chr11:33795400-33796600	Active TSS	Duodenum Mucosa	Duodenum
46	chr11:33795400-33796600	Active TSS	Fetal Lung	lung
47	chr11:33795400-33796600	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr11:33795400-33796600	Active TSS	Stomach Smooth Muscle	stomach
49	chr11:33795400-33796600	Active TSS	K562	blood
50	chr11:33795400-33796800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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