Variant report

Variant	esv2032607
Chromosome Location	chr11:8721612-8721613
allele	n/a
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	CEBPB	chr11:8721459-8722001	HepG2	liver:	n/a	n/a
2	CHD2	chr11:8721488-8722050	HepG2	liver:	n/a	n/a
3	EBF1	chr11:8721497-8721756	GM12878	blood:	n/a	n/a
4	ELF1	chr11:8721457-8721784	HepG2	liver:	n/a	n/a
5	EP300	chr11:8721354-8721814	HepG2	liver:	n/a	n/a
6	EP300	chr11:8721519-8721883	HepG2	liver:	n/a	n/a
7	EP300	chr11:8721395-8721723	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr11:8721399-8721671	SK-N-SH_RA	brain:	n/a	n/a
9	HDAC2	chr11:8721359-8721837	HepG2	liver:	n/a	n/a
10	HSF1	chr11:8721415-8721881	HepG2	liver:	n/a	chr11:8721660-8721675
11	MAX	chr11:8721261-8721990	HepG2	liver:	n/a	chr11:8721610-8721620
12	MAX	chr11:8721545-8721866	HepG2	liver:	n/a	chr11:8721610-8721620
13	MAX	chr11:8721436-8721766	NB4	blood:	n/a	chr11:8721610-8721620
14	MAX	chr11:8721439-8721872	SK-N-SH	brain:	n/a	chr11:8721610-8721620
15	MAX	chr11:8721210-8722039	HepG2	liver:	n/a	chr11:8721610-8721620
16	MAZ	chr11:8721373-8721786	HepG2	liver:	n/a	chr11:8721610-8721620
17	MYBL2	chr11:8721393-8721955	HepG2	liver:	n/a	n/a
18	MYC	chr11:8721493-8721827	NB4	blood:	n/a	chr11:8721610-8721620
19	MYC	chr11:8721472-8721764	HepG2	liver:	n/a	chr11:8721610-8721620
20	NANOG	chr11:8721418-8721682	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:8718535-8722277	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:8703113-8722297	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:8716731-8722284	K562	blood:	n/a	n/a
24	POLR2A	chr11:8721381-8721856	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:8720086-8722180	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:8718605-8722100	A549	lung:	n/a	n/a
27	POLR2A	chr11:8721330-8721705	HCT-116	colon:	n/a	n/a
28	POLR2A	chr11:8721406-8721645	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:8720103-8722012	K562	blood:	n/a	n/a
30	POLR2A	chr11:8716661-8722311	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:8720823-8722295	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:8718876-8722220	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:8721317-8721696	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:8719782-8722199	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:8721389-8721702	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:8721287-8721792	K562	blood:	n/a	n/a
38	POLR2A	chr11:8721192-8721842	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:8720661-8721874	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:8721412-8721870	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:8721574-8721619	MCF10A-Er-Src	breast:	n/a	n/a
42	RAD21	chr11:8721472-8721715	HepG2	liver:	n/a	chr11:8721609-8721619
43	RAD21	chr11:8721403-8721773	SK-N-SH_RA	brain:	n/a	chr11:8721609-8721619
44	RAD21	chr11:8721449-8721795	HepG2	liver:	n/a	chr11:8721609-8721619
45	RAD21	chr11:8721427-8721661	SK-N-SH_RA	brain:	n/a	chr11:8721609-8721619
46	RCOR1	chr11:8721459-8722184	HepG2	liver:	n/a	n/a
47	RFX5	chr11:8721276-8721852	HepG2	liver:	n/a	n/a
48	RXRA	chr11:8721401-8721837	HepG2	liver:	n/a	n/a
49	SMC3	chr11:8721473-8721706	HepG2	liver:	n/a	n/a
50	TCF12	chr11:8721114-8721882	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8720788..8722989-chr11:8731046..8732661,2	MCF-7	breast:
2	chr11:8715747..8718596-chr11:8720024..8721952,2	MCF-7	breast:
3	chr11:8719120..8722068-chr11:8726916..8729011,2	MCF-7	breast:
4	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:
5	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:
6	chr11:8720712..8722850-chr11:8760590..8762242,2	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166441	chromatin interactions
ENSG00000166444	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36089509	chr11:8721612-8721613	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs6483727	chr11:8721613-8721614	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Barrett''s syndrome	19417022	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8711800-8722200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:8711800-8724200	Weak transcription	Thymus	Thymus
3	chr11:8712800-8721800	Strong transcription	Fetal Stomach	stomach
4	chr11:8713000-8722000	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr11:8713200-8730000	Strong transcription	Liver	Liver
6	chr11:8713600-8723400	Strong transcription	Esophagus	oesophagus
7	chr11:8714000-8722000	Strong transcription	Aorta	Aorta
8	chr11:8715400-8721800	Weak transcription	Psoas Muscle	Psoas
9	chr11:8715400-8733600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:8716200-8722000	Weak transcription	K562	blood
11	chr11:8716200-8725000	Weak transcription	Fetal Brain Male	brain
12	chr11:8716800-8722000	Strong transcription	Colonic Mucosa	Colon
13	chr11:8718400-8722200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:8719000-8721800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:8719400-8728600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:8719600-8724000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:8719600-8737000	Weak transcription	Hela-S3	cervix
18	chr11:8719800-8722200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:8719800-8722200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:8719800-8722200	Enhancers	Pancreas	Pancrea
21	chr11:8719800-8724200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:8720000-8722200	Genic enhancers	Stomach Mucosa	stomach
23	chr11:8720000-8738200	Weak transcription	Fetal Kidney	kidney
24	chr11:8720200-8721800	Genic enhancers	Brain Cingulate Gyrus	brain
25	chr11:8720200-8722000	Enhancers	A549	lung
26	chr11:8720200-8722200	Genic enhancers	Gastric	stomach
27	chr11:8720200-8722800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:8720200-8722800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:8720200-8722800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:8720200-8724000	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr11:8720200-8731200	Strong transcription	Fetal Intestine Small	intestine
32	chr11:8720400-8721800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:8720400-8721800	Genic enhancers	Left Ventricle	heart
34	chr11:8720400-8722200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:8720400-8722200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:8720400-8722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:8720400-8722600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:8720400-8722600	Genic enhancers	Spleen	Spleen
39	chr11:8720400-8722800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:8720400-8722800	Enhancers	Brain Substantia Nigra	brain
41	chr11:8720400-8723400	Genic enhancers	Fetal Muscle Leg	muscle
42	chr11:8720400-8723800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:8720400-8728800	Weak transcription	Fetal Heart	heart
44	chr11:8720600-8721800	Enhancers	HMEC	breast
45	chr11:8720600-8722200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:8720600-8722200	Genic enhancers	HSMMtube	muscle
47	chr11:8720600-8722400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:8720600-8722600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:8720600-8723000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:8720600-8723800	Enhancers	HUES64 Cell Line	embryonic stem cell

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