Variant report

Variant	esv19708
Chromosome Location	chr11:6076999-6117545
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	CBX3	chr11:6097757-6098009	K562	blood:	n/a	n/a
2	CBX3	chr11:6097747-6098010	K562	blood:	n/a	n/a
3	CEBPB	chr11:6076913-6077239	H1-hESC	embryonic stem cell:	n/a	chr11:6076938-6076951 chr11:6077005-6077016
4	CEBPB	chr11:6097859-6098067	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr11:6076869-6077315	A549	lung:	n/a	chr11:6076938-6076951 chr11:6077005-6077016
6	CEBPB	chr11:6088579-6088770	HepG2	liver:	n/a	chr11:6088617-6088628
7	CEBPB	chr11:6076861-6077195	IMR90	lung:	n/a	chr11:6076938-6076951 chr11:6077005-6077016
8	CEBPB	chr11:6076871-6077114	K562	blood:	n/a	chr11:6076938-6076951 chr11:6077005-6077016
9	CEBPB	chr11:6084882-6084898	A549	lung:	n/a	n/a
10	CEBPB	chr11:6076851-6077255	HepG2	liver:	n/a	chr11:6076938-6076951 chr11:6077005-6077016
11	CTCF	chr11:6084009-6084278	H1-hESC	embryonic stem cell:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
12	CTCF	chr11:6083980-6084130	Hela-S3	cervix:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
13	CTCF	chr11:6099142-6099222	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:6117420-6117570	GM12874	blood:	n/a	n/a
15	CTCF	chr11:6084020-6084170	GM12868	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
16	CTCF	chr11:6114678-6114743	GM10248	blood:	n/a	n/a
17	CTCF	chr11:6084036-6084161	GM10266	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
18	CTCF	chr11:6084034-6084180	GM19239	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
19	CTCF	chr11:6098880-6099030	GM12865	blood:	n/a	n/a
20	CTCF	chr11:6083780-6083930	GM12875	blood:	n/a	n/a
21	CTCF	chr11:6084052-6084176	GM19240	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
22	CTCF	chr11:6084040-6084190	GM12867	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
23	CTCF	chr11:6114474-6114509	GM13976	blood:	n/a	n/a
24	CTCF	chr11:6084040-6084190	GM12864	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
25	CTCF	chr11:6084000-6084150	GM12872	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
26	CTCF	chr11:6084040-6084190	GM12874	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
27	CTCF	chr11:6084020-6084170	GM12873	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
28	CTCF	chr11:6083917-6084241	K562	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
29	CTCF	chr11:6084092-6084160	Hela-S3	cervix:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
30	CTCF	chr11:6084060-6084210	GM12875	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
31	CTCF	chr11:6084134-6084149	LNCaP	prostate:	n/a	n/a
32	CTCF	chr11:6084088-6084182	Fibrobl	skin:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
33	CTCF	chr11:6084110-6084141	LNCaP	prostate:	n/a	n/a
34	CTCF	chr11:6084000-6084150	WERI-Rb-1	eye:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
35	CTCF	chr11:6084000-6084150	HRE	kidney:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
36	CTCF	chr11:6084000-6084150	GM12878	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
37	CTCF	chr11:6084020-6084170	GM12864	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
38	CTCF	chr11:6084040-6084190	GM12873	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
39	CTCF	chr11:6084055-6084172	GM10248	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
40	CTCF	chr11:6083980-6084130	A549	lung:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
41	CTCF	chr11:6084040-6084190	HEK293	kidney:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
42	CTCF	chr11:6084140-6084290	HCT-116	colon:	n/a	chr11:6084280-6084288
43	CTCF	chr11:6083960-6084110	GM12871	blood:	n/a	chr11:6084098-6084107 chr11:6084100-6084110
44	CTCF	chr11:6103412-6103453	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr11:6084068-6084109	Gliobla	brain:	n/a	chr11:6084098-6084107
46	CTCF	chr11:6084109-6084126	ProgFib	skin:	n/a	n/a
47	CTCF	chr11:6084018-6084184	HepG2	liver:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
48	CTCF	chr11:6099080-6099230	K562	blood:	n/a	n/a
49	CTCF	chr11:6084080-6084230	GM12871	blood:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112
50	CTCF	chr11:6084060-6084210	Caco-2	colon:	n/a	chr11:6084095-6084113 chr11:6084098-6084107 chr11:6084100-6084110 chr11:6084096-6084112

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:6076616..6078585-chr11:6085137..6086663,2	K562	blood:
2	chr11:6076616..6078585-chr11:6085137..6086663,2	K562	blood:

Variant related genes	Relation type
OR52X1P	TF binding region
OR52L2P	TF binding region

Extended variants
information (count: 1325 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1325 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34707560	chr11:6077006-6077007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529160027	chr11:6077011-6077012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542397998	chr11:6077012-6077013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550315143	chr11:6077050-6077051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142166841	chr11:6077077-6077078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35482593	chr11:6077095-6077096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539509210	chr11:6077128-6077129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532869699	chr11:6077233-6077234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531914568	chr11:6077300-6077301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377204394	chr11:6077320-6077321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551481007	chr11:6077374-6077375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550243301	chr11:6077400-6077401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533811954	chr11:6077428-6077429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192233297	chr11:6077439-6077440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372975173	chr11:6077458-6077459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568721832	chr11:6077480-6077481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536176272	chr11:6077482-6077483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185772438	chr11:6077485-6077486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113136452	chr11:6077494-6077495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34810709	chr11:6077531-6077532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73406093	chr11:6077633-6077634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558280394	chr11:6077634-6077635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572895800	chr11:6077664-6077665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540194087	chr11:6077678-6077679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547176677	chr11:6077692-6077693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74053081	chr11:6077701-6077702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529125918	chr11:6077716-6077717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149596603	chr11:6077743-6077744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144233162	chr11:6077745-6077746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148728822	chr11:6077754-6077755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551178415	chr11:6077778-6077779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568706038	chr11:6077779-6077780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34958277	chr11:6077782-6077783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527382580	chr11:6077785-6077786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7940248	chr11:6077856-6077857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141307178	chr11:6077857-6077858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147436356	chr11:6077869-6077870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557664648	chr11:6077883-6077884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569350109	chr11:6077951-6077952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190244575	chr11:6077971-6077972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181623459	chr11:6077993-6077994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139626440	chr11:6078004-6078005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537472617	chr11:6078017-6078018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572955082	chr11:6078057-6078058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186281781	chr11:6078085-6078086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145218951	chr11:6078143-6078144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74468498	chr11:6078152-6078153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573732949	chr11:6078179-6078180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577674437	chr11:6078223-6078224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112219619	chr11:6078231-6078232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Barrett''s syndrome	19417022	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6076000-6082400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:6082000-6082600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:6082400-6082600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:6082600-6083000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:6083000-6084400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:6084000-6085200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:6086200-6086600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr11:6086600-6090400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:6088000-6088800	Enhancers	Fetal Brain Male	brain
10	chr11:6088200-6088600	Enhancers	Gastric	stomach
11	chr11:6088400-6088600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:6088400-6088800	Enhancers	Spleen	Spleen
13	chr11:6090000-6090400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:6090000-6091200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:6090000-6091200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:6090000-6091800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:6090200-6090400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:6090200-6090800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:6090200-6091000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:6090400-6090800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr11:6090400-6090800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:6090400-6091000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:6090400-6091200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr11:6091000-6091200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:6091200-6091800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:6091200-6095600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:6091800-6096000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:6095000-6096000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:6095600-6096200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:6096000-6096400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr11:6096000-6096600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:6098800-6100400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:6099400-6101000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr11:6105800-6106400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:6112600-6112800	Active TSS	Fetal Heart	heart
36	chr11:6112800-6117200	Weak transcription	Fetal Heart	heart
37	chr11:6114600-6115200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr11:6115000-6116000	Enhancers	Primary T cells from cord blood	blood
39	chr11:6115200-6116000	Enhancers	HUVEC	blood vessel
40	chr11:6115200-6116000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:6115200-6116200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:6115200-6116800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:6115400-6115800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:6115400-6115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:6116000-6116200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr11:6116600-6118800	Enhancers	Placenta	Placenta
47	chr11:6117200-6118400	Enhancers	Fetal Heart	heart
48	chr11:6117400-6117600	Enhancers	Fetal Muscle Leg	muscle
49	chr11:6117400-6117800	Bivalent Enhancer	HUVEC	blood vessel
50	chr11:6117400-6118800	Enhancers	Left Ventricle	heart

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