Variant report

Variant	esv3468919
Chromosome Location	chr11:19180942-19183414
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	CTCF	chr11:19182480-19182630	HMEC	breast:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
2	CTCF	chr11:19182452-19182732	GM12878	blood:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
3	CTCF	chr11:19182420-19182570	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:19182534-19182615	GM12878	blood:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
5	CTCF	chr11:19182523-19182664	MCF-7	breast:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
6	CTCF	chr11:19182491-19182695	MCF-7	breast:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
7	CTCF	chr11:19182480-19182630	HA-sp	spinal cord:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
8	CTCF	chr11:19182516-19182662	Hela-S3	cervix:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
9	CTCF	chr11:19182440-19182590	HCM	heart:	n/a	n/a
10	CTCF	chr11:19182440-19182590	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr11:19182447-19182728	K562	blood:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
12	CTCF	chr11:19182500-19182650	SAEC	small airway:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
13	CTCF	chr11:19182460-19182610	HPAF	blood vessel:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
14	CTCF	chr11:19182522-19182607	SK-N-SH_RA	brain:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
15	CTCF	chr11:19182480-19182630	HRPEpiC	eye:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
16	CTCF	chr11:19182480-19182630	K562	blood:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
17	CTCF	chr11:19182504-19182631	HUVEC	blood vessel:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
18	CTCF	chr11:19182518-19182625	LNCaP	prostate:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
19	CTCF	chr11:19182500-19182650	GM06990	blood:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
20	CTCF	chr11:19182523-19182641	HepG2	liver:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
21	CTCF	chr11:19182520-19182670	AG04449	skin:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
22	CTCF	chr11:19182480-19182630	Caco-2	colon:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
23	CTCF	chr11:19182400-19182550	RPTEC	kidney:	n/a	n/a
24	CTCF	chr11:19182400-19182550	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:19182480-19182630	HMF	breast:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
26	CTCF	chr11:19182480-19182630	WERI-Rb-1	eye:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
27	CTCF	chr11:19182481-19182749	MCF-7	breast:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
28	CTCF	chr11:19182500-19182650	RPTEC	kidney:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
29	CTCF	chr11:19182525-19182641	K562	blood:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
30	CTCF	chr11:19182440-19182590	HRE	kidney:	n/a	n/a
31	CTCF	chr11:19182520-19182790	HCT-116	colon:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
32	CTCF	chr11:19182480-19182630	HEEpiC	esophagus:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
33	CTCF	chr11:19182500-19182650	HMEC	breast:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
34	CTCF	chr11:19182512-19182630	Gliobla	brain:	n/a	chr11:19182583-19182599 chr11:19182584-19182605
35	CTCF	chr11:19182572-19182591	Pancreas_OC	pancreas:	n/a	n/a
36	GATA3	chr11:19183071-19183225	SH-SY5Y	brain:	n/a	n/a
37	NFYB	chr11:19181003-19181136	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:19181476-19181546	GM12878	blood:	n/a	n/a
39	RAD21	chr11:19182392-19182929	SK-N-SH	brain:	n/a	chr11:19182583-19182602 chr11:19182496-19182505
40	RAD21	chr11:19182471-19182755	SK-N-SH_RA	brain:	n/a	chr11:19182583-19182602 chr11:19182496-19182505
41	RAD21	chr11:19182361-19182848	MCF-7	breast:	n/a	chr11:19182583-19182602 chr11:19182496-19182505
42	RAD21	chr11:19182438-19182745	Hela-S3	cervix:	n/a	chr11:19182583-19182602 chr11:19182496-19182505
43	RAD21	chr11:19182488-19182661	H1-hESC	embryonic stem cell:	n/a	chr11:19182583-19182602 chr11:19182496-19182505
44	RAD21	chr11:19182341-19182810	HCT-116	colon:	n/a	chr11:19182583-19182602 chr11:19182496-19182505
45	RAD21	chr11:19182420-19182800	MCF-7	breast:	n/a	chr11:19182583-19182602 chr11:19182496-19182505
46	RAD21	chr11:19182430-19182722	SK-N-SH_RA	brain:	n/a	chr11:19182583-19182602 chr11:19182496-19182505
47	TBL1XR1	chr11:19183171-19183218	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:19092526..19093289-chr11:19182527..19183071,2	MCF-7	breast:
2	chr11:19165811..19169038-chr11:19178567..19181274,4	K562	blood:
3	chr11:19173396..19176209-chr11:19178466..19181065,2	K562	blood:

Variant related genes	Relation type
ZDHHC13	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548520764	chr11:19180952-19180953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566746633	chr11:19180964-19180965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182124368	chr11:19181013-19181014	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558826425	chr11:19181033-19181034	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs570620153	chr11:19181122-19181123	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs111370456	chr11:19181155-19181156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186772689	chr11:19181168-19181169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568311064	chr11:19181169-19181170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191538916	chr11:19181190-19181191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35485289	chr11:19181249-19181250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115175282	chr11:19181256-19181257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139301951	chr11:19181281-19181282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554844449	chr11:19181317-19181318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115387952	chr11:19181328-19181329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540517687	chr11:19181419-19181420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55794144	chr11:19181434-19181435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142775355	chr11:19181510-19181511	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs74438118	chr11:19181544-19181545	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs11025038	chr11:19181567-19181568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562967294	chr11:19181570-19181571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12801321	chr11:19181590-19181591	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548560883	chr11:19181595-19181596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184059716	chr11:19181706-19181707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527629735	chr11:19181796-19181797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189796041	chr11:19181827-19181828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11025039	chr11:19181852-19181853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57519151	chr11:19181926-19181927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398097398	chr11:19181928-19181929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532745955	chr11:19181937-19181938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551244800	chr11:19181952-19181953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79313014	chr11:19182025-19182026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538009613	chr11:19182026-19182027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549631096	chr11:19182045-19182046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563020449	chr11:19182082-19182083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568100425	chr11:19182214-19182215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535090728	chr11:19182217-19182218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553393118	chr11:19182271-19182272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3802797	chr11:19182288-19182289	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs3802798	chr11:19182348-19182349	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201594498	chr11:19182357-19182358	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs146045631	chr11:19182428-19182429	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs577385920	chr11:19182499-19182500	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11606142	chr11:19182570-19182571	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534323307	chr11:19182578-19182579	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562847093	chr11:19182697-19182698	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs193162170	chr11:19182710-19182711	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542338078	chr11:19182738-19182739	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560497168	chr11:19182758-19182759	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs527668268	chr11:19182764-19182765	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552203781	chr11:19182771-19182772	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19140000-19186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:19140800-19186800	Weak transcription	Colonic Mucosa	Colon
3	chr11:19143400-19185800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:19143400-19186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:19143400-19201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:19143600-19197400	Weak transcription	Small Intestine	intestine
7	chr11:19153200-19186600	Weak transcription	Aorta	Aorta
8	chr11:19156600-19193200	Weak transcription	Fetal Stomach	stomach
9	chr11:19156800-19193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:19156800-19194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:19157200-19186200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:19161600-19194400	Weak transcription	HSMM	muscle
13	chr11:19162800-19203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:19164000-19200400	Weak transcription	Fetal Brain Male	brain
15	chr11:19166200-19186200	Weak transcription	Brain Anterior Caudate	brain
16	chr11:19166400-19203000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:19166800-19186400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:19167000-19194200	Weak transcription	Fetal Kidney	kidney
19	chr11:19167400-19184800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:19167400-19186600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:19167400-19194200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:19167600-19184200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:19167800-19181600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:19167800-19181800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:19167800-19199400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:19168000-19201600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:19168400-19181400	Strong transcription	Dnd41	blood
28	chr11:19168400-19182200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:19168400-19184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:19168800-19185200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:19169000-19186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:19169000-19189000	Weak transcription	Fetal Intestine Small	intestine
33	chr11:19169000-19194600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:19169200-19181600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:19169200-19185200	Weak transcription	K562	blood
36	chr11:19169400-19197800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:19169400-19200400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:19169600-19186200	Weak transcription	HepG2	liver
39	chr11:19170000-19186200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:19170000-19200200	Strong transcription	Primary B cells from cord blood	blood
41	chr11:19170400-19183600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:19171000-19190200	Weak transcription	NH-A	brain
43	chr11:19171600-19188000	Weak transcription	HMEC	breast
44	chr11:19171600-19192400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:19172000-19185600	Weak transcription	Fetal Thymus	thymus
46	chr11:19172000-19186800	Weak transcription	Hela-S3	cervix
47	chr11:19172200-19208600	Weak transcription	Brain Substantia Nigra	brain
48	chr11:19172600-19186800	Weak transcription	NHDF-Ad	bronchial
49	chr11:19172800-19194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:19172800-19194400	Weak transcription	Brain Germinal Matrix	brain

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