Variant report

Variant	rs4755893
Chromosome Location	chr11:33721175-33721176
allele	C/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	MXI1	chr11:33720823-33721891	HepG2	liver:	n/a	chr11:33721282-33721297
2	CEBPB	chr11:33721113-33721511	HepG2	liver:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
3	USF1	chr11:33720931-33721314	K562	blood:	n/a	n/a
4	HDAC2	chr11:33721089-33721785	HepG2	liver:	n/a	n/a
5	USF2	chr11:33720990-33721710	HepG2	liver:	n/a	n/a
6	MAX	chr11:33720934-33721476	K562	blood:	n/a	n/a
7	POLR2A	chr11:33720881-33722003	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:33720956-33721657	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:33721096-33721788	U87	brain:	n/a	n/a
10	MYC	chr11:33720831-33721783	NB4	blood:	n/a	n/a
11	TBP	chr11:33720853-33721708	HepG2	liver:	n/a	n/a
12	REST	chr11:33721156-33721544	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:33720836-33722023	PANC-1	pancreas:	n/a	n/a
14	MAZ	chr11:33720961-33721794	HepG2	liver:	n/a	n/a
15	CHD2	chr11:33721172-33721860	HepG2	liver:	n/a	chr11:33721611-33721621
16	YY1	chr11:33721068-33721505	HepG2	liver:	n/a	n/a
17	USF1	chr11:33721035-33721205	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:33720749-33723814	HepG2	liver:	n/a	n/a
19	HEY1	chr11:33721033-33721825	HepG2	liver:	n/a	n/a
20	CEBPD	chr11:33721060-33721629	HepG2	liver:	n/a	n/a
21	HEY1	chr11:33720917-33721925	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:33720710-33723657	HepG2	liver:	n/a	n/a
23	JUND	chr11:33720953-33721596	HepG2	liver:	n/a	n/a
24	RXRA	chr11:33721081-33721621	HepG2	liver:	n/a	chr11:33721473-33721486 chr11:33721473-33721486 chr11:33721473-33721486
25	MAFK	chr11:33721033-33721659	HepG2	liver:	n/a	n/a
26	EP300	chr11:33720916-33721710	HepG2	liver:	n/a	n/a
27	HDAC2	chr11:33721049-33721643	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:33721035-33723613	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:33720963-33721644	HepG2	liver:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
30	CEBPB	chr11:33721173-33721484	IMR90	lung:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
31	EP300	chr11:33721055-33721674	HepG2	liver:	n/a	n/a
32	ARID3A	chr11:33720951-33721633	HepG2	liver:	n/a	n/a
33	CEBPB	chr11:33721057-33721662	HepG2	liver:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
34	CEBPB	chr11:33721156-33721478	K562	blood:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
35	CEBPD	chr11:33721148-33721424	HepG2	liver:	n/a	n/a
36	SMARCB1	chr11:33721094-33722731	Hela-S3	cervix:	n/a	n/a
37	RCOR1	chr11:33721071-33721906	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:33721154-33721852	HepG2	liver:	n/a	n/a
39	EP300	chr11:33720892-33721916	HepG2	liver:	n/a	n/a
40	MYC	chr11:33721107-33721445	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:33721095-33724992	IMR90	lung:	n/a	n/a
42	POLR2A	chr11:33720730-33723214	NB4	blood:	n/a	n/a
43	HNF4A	chr11:33721112-33721661	HepG2	liver:	n/a	chr11:33721523-33721535 chr11:33721473-33721486 chr11:33721472-33721487 chr11:33721522-33721537 chr11:33721471-33721489 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721521-33721536 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721473-33721488 chr11:33721474-33721487 chr11:33721522-33721537
44	HNF4A	chr11:33721162-33722624	HepG2	liver:	n/a	chr11:33721523-33721535 chr11:33721473-33721486 chr11:33721472-33721487 chr11:33721522-33721537 chr11:33721471-33721489 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721521-33721536 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721473-33721488 chr11:33721474-33721487 chr11:33721522-33721537
45	ZNF263	chr11:33720962-33721603	HEK293-T-REx	kidney:	n/a	n/a
46	USF1	chr11:33720992-33721271	HepG2	liver:	n/a	n/a
47	MYBL2	chr11:33720973-33721704	HepG2	liver:	n/a	n/a
48	BRCA1	chr11:33721096-33721939	HepG2	liver:	n/a	n/a
49	MAX	chr11:33720712-33723075	NB4	blood:	n/a	chr11:33722471-33722481
50	CEBPB	chr11:33721161-33721507	K562	blood:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326

No.	Distal block	Cell Line	Cell type
1	chr11:33278338..33280021-chr11:33719224..33721244,2	K562	blood:
2	chr11:33720959..33721744-chr18:47018091..47018871,2	NB4	blood:
3	chr11:33720701..33723094-chr11:33794886..33797220,2	MCF-7	breast:
4	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
5	chr11:33720036..33722677-chr11:33824670..33827365,2	K562	blood:
6	chr11:33181371..33183900-chr11:33718625..33721294,2	K562	blood:
7	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
8	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
9	chr11:33718791..33721671-chr11:33742848..33744995,2	K562	blood:

Variant related genes	Relation type
ENSG00000255202	TF binding region
ENSG00000255169	Chromatin interaction
ENSG00000265681	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000254508	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000247151	Chromatin interaction
ENSG00000271982	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000110422	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1047581	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032350	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032363	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[ASN][1000 genomes]
rs11032374	0.82[ASN][1000 genomes]
rs1112840	0.82[ASN][1000 genomes]
rs12360810	0.89[ASN][1000 genomes]
rs12364970	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1402953	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[ASN][1000 genomes]
rs1546727	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2901375	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3181274	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs34944910	0.82[ASN][1000 genomes]
rs35162575	0.82[ASN][1000 genomes]
rs36093484	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755894	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56113937	0.89[ASN][1000 genomes]
rs56399849	0.89[ASN][1000 genomes]
rs7117382	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs7131663	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7357	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap]
rs842	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.95[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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33709200-33721800	Enhancers	HMEC	breast
2	chr11:33709600-33722200	Enhancers	Stomach Mucosa	stomach
3	chr11:33713400-33721800	Enhancers	NHEK	skin
4	chr11:33714000-33721600	Weak transcription	Aorta	Aorta
5	chr11:33714600-33721600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:33714800-33721200	Weak transcription	Fetal Intestine Large	intestine
7	chr11:33716400-33721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:33716600-33721600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:33716800-33721200	Weak transcription	NHLF	lung
10	chr11:33716800-33721600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:33717200-33721200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:33717200-33721200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:33717200-33721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:33717200-33721600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:33717400-33721400	Weak transcription	Liver	Liver
16	chr11:33717800-33721400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:33717800-33721800	Enhancers	Placenta	Placenta
18	chr11:33718000-33721400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:33718000-33721600	Enhancers	Gastric	stomach
20	chr11:33718000-33722200	Weak transcription	Fetal Kidney	kidney
21	chr11:33718200-33721200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:33718200-33721200	Weak transcription	Fetal Brain Male	brain
23	chr11:33718200-33721400	Weak transcription	Brain Anterior Caudate	brain
24	chr11:33718200-33722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:33718400-33721600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:33718400-33725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:33718600-33721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:33718600-33721600	Enhancers	NHDF-Ad	bronchial
29	chr11:33718600-33722000	Enhancers	Pancreas	Pancrea
30	chr11:33718800-33721600	Enhancers	Osteobl	bone
31	chr11:33719000-33721600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:33719000-33721600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:33719000-33721600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:33719200-33721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:33719200-33721400	Weak transcription	Adipose Nuclei	Adipose
36	chr11:33719400-33721600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:33719600-33721200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:33719600-33721200	Weak transcription	Brain Germinal Matrix	brain
39	chr11:33719600-33721400	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:33719600-33721600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:33719600-33722600	Enhancers	HUVEC	blood vessel
42	chr11:33719800-33721200	Weak transcription	Lung	lung
43	chr11:33719800-33721400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:33719800-33721600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:33719800-33721600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr11:33720000-33721200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:33720000-33721200	Weak transcription	Right Atrium	heart
48	chr11:33720000-33721200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:33720000-33721200	Weak transcription	NH-A	brain
50	chr11:33720000-33721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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