Variant report

Variant	rs11042052
Chromosome Location	chr11:8750553-8750554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8750073-8750571	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:8749921-8750599	PFSK-1	brain:	n/a	n/a
3	TCF12	chr11:8750096-8750628	SK-N-SH	brain:	n/a	n/a
4	RXRA	chr11:8750024-8750583	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr11:8749942-8750645	SK-N-SH	brain:	n/a	n/a
6	JUND	chr11:8749989-8750606	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr11:8750120-8750592	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr11:8750027-8750625	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr11:8749998-8750603	SK-N-SH	brain:	n/a	n/a
10	EP300	chr11:8750068-8750650	SK-N-SH	brain:	n/a	chr11:8750454-8750464
11	JUND	chr11:8750086-8750640	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr11:8749961-8750644	SK-N-SH	brain:	n/a	n/a
13	TAF1	chr11:8750231-8750632	PFSK-1	brain:	n/a	n/a
14	PBX3	chr11:8749970-8750559	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8739900..8744386-chr11:8745369..8750564,8	K562	blood:
2	chr11:8711146..8713516-chr11:8750024..8752030,2	K562	blood:
3	chr11:8700027..8703082-chr11:8748797..8752038,3	MCF-7	breast:
4	chr11:8708851..8710617-chr11:8748312..8750777,3	K562	blood:
5	chr11:8704389..8706036-chr11:8750148..8752543,2	K562	blood:
6	chr11:8745341..8747316-chr11:8750121..8752572,2	MCF-7	breast:

No data

Variant related genes	Relation type
ST5	TF binding region
ENSG00000254900	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000200983	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10743086	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10840119	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs10840120	0.89[CEU][hapmap];0.80[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11042064	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs12269980	0.89[CEU][hapmap];0.80[CHB][hapmap]
rs12287694	0.90[CEU][hapmap]
rs12420964	0.89[CEU][hapmap];0.80[CHB][hapmap]
rs16906037	0.90[CEU][hapmap]
rs3763917	0.89[CEU][hapmap];0.80[CHB][hapmap]
rs3763919	0.80[CHB][hapmap]
rs3913547	0.89[CEU][hapmap];0.80[CHB][hapmap];0.86[EUR][1000 genomes]
rs4082668	0.90[CEU][hapmap]
rs4370937	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs55902154	0.83[EUR][1000 genomes]
rs61875931	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6484007	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7105372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8735400-8753400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:8736200-8773800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:8742600-8754000	Weak transcription	Hela-S3	cervix
4	chr11:8744000-8752800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:8744000-8754200	Weak transcription	A549	lung
6	chr11:8744200-8757600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:8744600-8750600	Weak transcription	HepG2	liver
8	chr11:8744800-8751200	Weak transcription	Colonic Mucosa	Colon
9	chr11:8744800-8753000	Weak transcription	Adipose Nuclei	Adipose
10	chr11:8744800-8753400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:8745000-8754400	Weak transcription	Small Intestine	intestine
12	chr11:8745600-8751600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:8745600-8754000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:8746000-8754200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:8746200-8757400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:8746400-8757200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:8746600-8757200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:8746600-8783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:8747800-8750600	Weak transcription	NHEK	skin
20	chr11:8747800-8751800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:8747800-8756400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:8748000-8751600	Genic enhancers	Fetal Stomach	stomach
23	chr11:8748000-8751800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:8748000-8752000	Enhancers	Rectal Smooth Muscle	rectum
25	chr11:8748200-8750600	Genic enhancers	Fetal Muscle Leg	muscle
26	chr11:8748200-8750600	Enhancers	Left Ventricle	heart
27	chr11:8748200-8750800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:8748600-8750600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:8748600-8750800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:8748600-8751000	Enhancers	Fetal Heart	heart
31	chr11:8748600-8751400	Enhancers	Ovary	ovary
32	chr11:8748800-8750600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:8748800-8750600	Enhancers	Osteobl	bone
34	chr11:8748800-8751400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:8748800-8753000	Weak transcription	Aorta	Aorta
36	chr11:8748800-8754600	Weak transcription	Fetal Thymus	thymus
37	chr11:8749000-8750600	Enhancers	Liver	Liver
38	chr11:8749000-8750800	Weak transcription	Esophagus	oesophagus
39	chr11:8749000-8751000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:8749000-8751200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:8749000-8751200	Weak transcription	Lung	lung
42	chr11:8749000-8754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:8749200-8750800	Enhancers	Fetal Brain Male	brain
44	chr11:8749200-8751200	Weak transcription	Gastric	stomach
45	chr11:8749400-8751400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:8749400-8751400	Weak transcription	Right Atrium	heart
47	chr11:8749400-8751600	Genic enhancers	Fetal Lung	lung
48	chr11:8749400-8753400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:8749400-8753600	Weak transcription	HUVEC	blood vessel
50	chr11:8749400-8754400	Weak transcription	Duodenum Mucosa	Duodenum

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