Variant report

Variant	esv3349972
Chromosome Location	chr11:10530888-10531135
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	BATF	chr11:10529276-10531911	GM12878	blood:	n/a	n/a
2	BATF	chr11:10529366-10531910	GM12878	blood:	n/a	n/a
3	BCL11A	chr11:10529354-10531922	GM12878	blood:	n/a	n/a
4	BCL11A	chr11:10529372-10531895	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:10529352-10531914	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:10530661-10531372	GM12878	blood:	n/a	n/a
7	CEBPB	chr11:10530695-10531369	K562	blood:	n/a	n/a
8	CEBPB	chr11:10530682-10531381	K562	blood:	n/a	n/a
9	CEBPD	chr11:10529257-10531941	K562	blood:	n/a	n/a
10	CTCF	chr11:10530691-10531312	K562	blood:	n/a	n/a
11	CTCF	chr11:10531056-10531228	Medullo	brain:	n/a	n/a
12	CTCF	chr11:10530997-10531085	Gliobla	brain:	n/a	n/a
13	CTCF	chr11:10530683-10531383	K562	blood:	n/a	n/a
14	CTCF	chr11:10530860-10531010	BE2_C	brain:	n/a	n/a
15	EBF1	chr11:10529370-10531908	GM12878	blood:	n/a	chr11:10529471-10529480
16	EBF1	chr11:10529365-10531811	GM12878	blood:	n/a	chr11:10529471-10529480
17	EP300	chr11:10529350-10531933	GM12878	blood:	n/a	n/a
18	EP300	chr11:10529378-10531372	GM12878	blood:	n/a	n/a
19	FOSL2	chr11:10529328-10531940	HepG2	liver:	n/a	chr11:10531679-10531691 chr11:10531680-10531690 chr11:10531680-10531690 chr11:10531682-10531693 chr11:10531680-10531690 chr11:10531680-10531689 chr11:10531680-10531690
20	FOSL2	chr11:10529257-10531852	HepG2	liver:	n/a	chr11:10531679-10531691 chr11:10531680-10531690 chr11:10531680-10531690 chr11:10531682-10531693 chr11:10531680-10531690 chr11:10531680-10531689 chr11:10531680-10531690
21	FOXA1	chr11:10529297-10531732	HepG2	liver:	n/a	n/a
22	FOXM1	chr11:10529246-10531966	GM12878	blood:	n/a	n/a
23	FOXP2	chr11:10530277-10531391	PFSK-1	brain:	n/a	n/a
24	FOXP2	chr11:10530613-10531736	SK-N-MC	brain:	n/a	n/a
25	GABPA	chr11:10529345-10531920	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr11:10530646-10531357	Hela-S3	cervix:	n/a	n/a
27	GATA2	chr11:10529254-10531935	K562	blood:	n/a	chr11:10529387-10529397
28	HEY1	chr11:10529267-10531936	K562	blood:	n/a	n/a
29	HEY1	chr11:10529576-10531650	HepG2	liver:	n/a	n/a
30	HEY1	chr11:10529350-10531888	HepG2	liver:	n/a	n/a
31	IRF4	chr11:10529252-10531865	GM12878	blood:	n/a	n/a
32	IRF4	chr11:10529196-10531887	GM12878	blood:	n/a	n/a
33	JUND	chr11:10530014-10531357	HepG2	liver:	n/a	n/a
34	JUND	chr11:10529359-10531891	HepG2	liver:	n/a	chr11:10531679-10531691 chr11:10531680-10531690 chr11:10531680-10531690 chr11:10531682-10531693 chr11:10531680-10531690 chr11:10531680-10531689 chr11:10531680-10531690
35	NFIC	chr11:10529168-10531951	GM12878	blood:	n/a	n/a
36	NR2F2	chr11:10529228-10531987	K562	blood:	n/a	n/a
37	PAX5	chr11:10529202-10531992	GM12878	blood:	n/a	n/a
38	PAX5	chr11:10529339-10531375	GM12878	blood:	n/a	n/a
39	PAX5	chr11:10529378-10531371	GM12878	blood:	n/a	n/a
40	PAX5	chr11:10529245-10531899	GM12878	blood:	n/a	n/a
41	PBX3	chr11:10530010-10531821	GM12878	blood:	n/a	n/a
42	PBX3	chr11:10530647-10531360	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:10529295-10531816	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:10529378-10531847	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:10529260-10532015	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:10530987-10531222	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:10529272-10531851	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:10530693-10531249	HepG2	liver:	n/a	n/a
49	POLR2A	chr11:10529334-10531844	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:10530275-10531729	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:10531091-10531141	Hela-S3	cervix:	n/a
2	chr11:10531091-10531141	HCF	heart:	n/a
3	chr11:10531091-10531141	HCM	heart:	n/a
4	chr11:10531091-10531141	H1-hESC	embryonic stem cell:	embryo
5	chr11:10531091-10531141	NB4	blood:	n/a
6	chr11:10531091-10531141	NHBE	bronchial:	n/a
7	chr11:10531091-10531141	A549	lung:	n/a
8	chr11:10531091-10531141	K562	blood:	n/a
9	chr11:10531091-10531141	HUVEC	blood vessel:	n/a
10	chr11:10531091-10531141	HCT-116	colon:	n/a
11	chr11:10531091-10531141	GM12878	blood:	n/a
12	chr11:10531091-10531141	BJ	skin:	n/a
13	chr11:10531091-10531141	HRE	kidney:	n/a
14	chr11:10531091-10531141	HepG2	liver:	n/a
15	chr11:10531091-10531141	AG10803	skin:	n/a
16	chr11:10531091-10531141	Jurkat	blood:	n/a
17	chr11:10531091-10531141	HPAEpiC	pulmonary alveolar:	n/a
18	chr11:10531091-10531141	GM12892	blood:	n/a
19	chr11:10531091-10531141	SAEC	small airway:	n/a
20	chr11:10531091-10531141	HRCEpiC	kidney:	n/a
21	chr11:10531091-10531141	SK-N-SH_RA	brain:	n/a
22	chr11:10531091-10531141	HEK293	kidney:	embryo
23	chr11:10531091-10531141	SKMC	muscle:	n/a
24	chr11:10531091-10531141	HL-60	blood:	n/a
25	chr11:10531091-10531141	LNCaP	prostate:	n/a
26	chr11:10531091-10531141	NH-A	brain:	n/a
27	chr11:10531091-10531141	HMEC	breast:	n/a
28	chr11:10531091-10531141	HAEpiC	amniotic membrane:	n/a
29	chr11:10531091-10531141	BE2_C	brain:	n/a
30	chr11:10531091-10531141	HCPEpiC	choroid plexus:	n/a
31	chr11:10531091-10531141	IMR90	lung:	fetal
32	chr11:10531091-10531141	MCF-7	breast:	n/a
33	chr11:10531091-10531141	ECC-1	luminal epithelium:	n/a
34	chr11:10531091-10531141	SK-N-MC	brain:	n/a
35	chr11:10531091-10531141	AG09319	gingival:	n/a
36	chr11:10531091-10531141	AG04450	lung:	fetal
37	chr11:10531091-10531141	HIPEpiC	eye:	n/a
38	chr11:10531091-10531141	GM19239	blood:	n/a
39	chr11:10531091-10531141	SK-N-SH	brain:	n/a
40	chr11:10531091-10531141	RPTEC	kidney:	n/a
41	chr11:10531091-10531141	T-47D	breast:	n/a
42	chr11:10531091-10531141	NT2-D1	testis:	n/a
43	chr11:10531091-10531141	Caco-2	colon:	n/a
44	chr11:10531091-10531141	CMK	blood:	n/a
45	chr11:10531091-10531141	AG09309	skin:	n/a
46	chr11:10531091-10531141	HEEpiC	esophagus:	n/a
47	chr11:10531091-10531141	HRPEpiC	eye:	n/a
48	chr11:10531091-10531141	GM06990	blood:	n/a
49	chr11:10531091-10531141	NHDF-neo	bronchial:	n/a
50	chr11:10531091-10531141	GM12891	blood:	n/a

Variant related genes	Relation type
MTRNR2L8	TF binding region
MTRNR2L8	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7941691	chr11:10530922-10530923	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60990110	chr11:10530926-10530927	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs56506460	chr11:10530956-10530957	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs56508960	chr11:10530968-10530969	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs56685651	chr11:10531001-10531002	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs9783336	chr11:10531008-10531009	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs75132944	chr11:10531013-10531014	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs55897150	chr11:10531016-10531017	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs57254418	chr11:10531020-10531021	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs55781348	chr11:10531025-10531026	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79106383	chr11:10531029-10531030	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs75677397	chr11:10531030-10531031	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552451976	chr11:10531092-10531093	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs566263680	chr11:10531103-10531104	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs78903849	chr11:10531114-10531115	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs79421587	chr11:10531115-10531116	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs12360576	chr11:10531122-10531123	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
2	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
3	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
4	chr11:10511000-10533200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr11:10512800-10531600	Weak transcription	Stomach Mucosa	stomach
6	chr11:10512800-10540400	Weak transcription	Fetal Lung	lung
7	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
8	chr11:10513000-10531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:10513200-10538000	Weak transcription	Left Ventricle	heart
10	chr11:10513400-10536000	Weak transcription	A549	lung
11	chr11:10514600-10531400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:10514600-10535600	Weak transcription	HSMM	muscle
13	chr11:10515800-10540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:10516000-10544000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:10517200-10531800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:10520000-10543400	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:10520400-10531600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:10522200-10531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:10522200-10531800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:10522200-10541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:10522400-10532400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:10522400-10535600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:10522400-10537800	Weak transcription	Fetal Intestine Large	intestine
24	chr11:10522400-10540600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:10522400-10546200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:10522800-10540600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:10524200-10537800	Weak transcription	Aorta	Aorta
29	chr11:10524600-10536800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:10524600-10540600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:10524600-10544800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:10525600-10533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:10526000-10532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:10526200-10532000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:10526200-10535400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:10526400-10532600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:10526400-10532600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:10526400-10532600	Weak transcription	Esophagus	oesophagus
40	chr11:10526400-10533200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:10526400-10536000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:10526400-10536200	Weak transcription	NHDF-Ad	bronchial
43	chr11:10526400-10537800	Weak transcription	Pancreas	Pancrea
44	chr11:10526400-10548800	Weak transcription	Spleen	Spleen
45	chr11:10526400-10549000	Weak transcription	Ovary	ovary
46	chr11:10526400-10551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
48	chr11:10526600-10532000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:10526800-10537800	Weak transcription	Fetal Intestine Small	intestine
50	chr11:10526800-10548800	Weak transcription	Psoas Muscle	Psoas

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