Variant report

Variant	nsv1041249
Chromosome Location	chr11:19229878-19248268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:19240392-19240659	K562	blood:	n/a	n/a
2	CEBPB	chr11:19233317-19233517	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:19240412-19240681	H1-hESC	embryonic stem cell:	n/a	chr11:19240552-19240563
4	CEBPB	chr11:19240443-19240627	K562	blood:	n/a	chr11:19240552-19240563
5	CEBPB	chr11:19240237-19240743	K562	blood:	n/a	chr11:19240552-19240563
6	CEBPB	chr11:19240379-19240720	HepG2	liver:	n/a	chr11:19240552-19240563
7	CEBPB	chr11:19240420-19240657	MCF-7	breast:	n/a	chr11:19240552-19240563
8	CEBPB	chr11:19240362-19240746	Hela-S3	cervix:	n/a	chr11:19240552-19240563
9	CEBPB	chr11:19240434-19240662	K562	blood:	n/a	chr11:19240552-19240563
10	CTCF	chr11:19231280-19231430	Caco-2	colon:	n/a	n/a
11	CTCF	chr11:19231300-19231450	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr11:19231260-19231410	AG10803	skin:	n/a	n/a
13	CTCF	chr11:19231300-19231450	HCFaa	heart:	n/a	n/a
14	CTCF	chr11:19231364-19231472	Fibrobl	skin:	n/a	n/a
15	CTCF	chr11:19231240-19231390	AG04449	skin:	n/a	n/a
16	CTCF	chr11:19231300-19231450	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr11:19245331-19245401	LNCaP	prostate:	n/a	n/a
18	CTCF	chr11:19243380-19243530	Caco-2	colon:	n/a	n/a
19	CTCF	chr11:19231340-19231490	BJ	skin:	n/a	n/a
20	CTCF	chr11:19231346-19231396	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr11:19231260-19231410	HEK293	kidney:	n/a	n/a
22	CTCF	chr11:19231360-19231510	HCT-116	colon:	n/a	n/a
23	CTCF	chr11:19240332-19240382	GM20000	blood:	n/a	n/a
24	CTCF	chr11:19231280-19231430	NHEK	skin:	n/a	n/a
25	CTCF	chr11:19231260-19231410	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr11:19231220-19231370	HVMF	connective:	n/a	n/a
27	CTCF	chr11:19231328-19231408	NHEK	skin:	n/a	n/a
28	CTCF	chr11:19231380-19231530	NHEK	skin:	n/a	n/a
29	CTCF	chr11:19231345-19231423	Gliobla	brain:	n/a	n/a
30	E2F4	chr11:19238309-19238943	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr11:19238311-19238644	T-47D	breast:	n/a	n/a
32	EP300	chr11:19240480-19240674	Hela-S3	cervix:	n/a	n/a
33	EP300	chr11:19238176-19238718	T-47D	breast:	n/a	n/a
34	FOS	chr11:19238278-19238864	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:19238262-19238912	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:19240622-19240656	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr11:19240627-19240635	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:19238237-19238868	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr11:19236216-19236348	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:19236282-19236338	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr11:19236165-19236406	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr11:19238345-19238884	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr11:19240588-19240860	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr11:19236150-19236435	MCF10A-Er-Src	breast:	n/a	n/a
45	FOXA1	chr11:19238144-19238668	T-47D	breast:	n/a	n/a
46	FOXA1	chr11:19238315-19238636	T-47D	breast:	n/a	n/a
47	GATA3	chr11:19238118-19238668	T-47D	breast:	n/a	n/a
48	GATA3	chr11:19238094-19238710	T-47D	breast:	n/a	n/a
49	JUND	chr11:19246669-19246895	HepG2	liver:	n/a	n/a
50	MAFF	chr11:19236281-19236459	HepG2	liver:	n/a	chr11:19236338-19236356

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:19185857..19188354-chr11:19242363..19244563,2	K562	blood:
2	chr11:19238815..19240726-chr11:19260591..19263384,2	K562	blood:
3	chr11:19237086..19239197-chr11:19252480..19254711,3	K562	blood:
4	chr11:19234188..19237761-chr11:19241094..19244305,3	K562	blood:
5	chr11:19246445..19248111-chr11:19248180..19250188,2	MCF-7	breast:
6	chr11:19235182..19237615-chr11:19290610..19292400,2	K562	blood:
7	chr11:19234188..19237761-chr11:19241094..19244305,3	K562	blood:
8	chr11:19234036..19235800-chr11:19239215..19241038,2	K562	blood:
9	chr11:19234036..19235800-chr11:19239215..19241038,2	K562	blood:
10	chr11:19238470..19240059-chr11:19258627..19260241,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC13-1	chr11:19246381-19246527	ENSG00000255308.1

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	E2F8	hsa-miR-19b-3p	chr11:19245808-19245830
2	E2F8	hsa-miR-19b-3p	chr11:19245814-19245807
3	E2F8	hsa-miR-19b-3p	chr11:19245696-19245717

Variant related genes	Relation type
CSRP3	TF binding region
E2F8	TF binding region
ENSG00000129173	chromatin interactions

Extended variants
information (count: 706 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7104244	chr11:19229878-19229879	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181729348	chr11:19229907-19229908	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576414330	chr11:19229980-19229981	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537029533	chr11:19229988-19229989	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144107238	chr11:19229993-19229994	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187213283	chr11:19230040-19230041	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190800835	chr11:19230042-19230043	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375084305	chr11:19230059-19230060	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72904181	chr11:19230095-19230096	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372692056	chr11:19230124-19230125	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577835289	chr11:19230125-19230126	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180846482	chr11:19230140-19230141	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117845442	chr11:19230151-19230152	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530558921	chr11:19230159-19230160	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11025056	chr11:19230165-19230166	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186203355	chr11:19230189-19230190	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190188545	chr11:19230267-19230268	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146475801	chr11:19230289-19230290	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565899153	chr11:19230290-19230291	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35530213	chr11:19230306-19230307	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539627582	chr11:19230310-19230311	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551877167	chr11:19230328-19230329	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140990138	chr11:19230354-19230355	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182738963	chr11:19230356-19230357	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555756967	chr11:19230389-19230390	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573985792	chr11:19230433-19230434	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375569024	chr11:19230463-19230464	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185990552	chr11:19230499-19230500	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553220250	chr11:19230538-19230539	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs11025057	chr11:19230539-19230540	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs544857216	chr11:19230542-19230543	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563447486	chr11:19230551-19230552	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541907389	chr11:19230572-19230573	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs143303934	chr11:19230619-19230620	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs151273066	chr11:19230620-19230621	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560517514	chr11:19230637-19230638	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs7108302	chr11:19230641-19230642	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560198324	chr11:19230701-19230702	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140467328	chr11:19230703-19230704	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559594008	chr11:19230731-19230732	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190662226	chr11:19230744-19230745	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150391788	chr11:19230817-19230818	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570142115	chr11:19230818-19230819	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530861910	chr11:19230852-19230853	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs527264813	chr11:19230855-19230856	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs183902538	chr11:19230917-19230918	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535000318	chr11:19230990-19230991	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553332643	chr11:19231012-19231013	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs55714085	chr11:19231050-19231051	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545799982	chr11:19231062-19231063	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	n/a	n/a	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:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19222600-19231000	Weak transcription	Gastric	stomach
2	chr11:19223600-19230600	Weak transcription	Psoas Muscle	Psoas
3	chr11:19224200-19230000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:19224800-19230400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:19225000-19230400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:19227000-19230400	Enhancers	Fetal Heart	heart
7	chr11:19228600-19231200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:19229200-19231000	Weak transcription	Right Atrium	heart
9	chr11:19229200-19231200	Weak transcription	Right Ventricle	heart
10	chr11:19229400-19240200	Weak transcription	Left Ventricle	heart
11	chr11:19229400-19244800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:19229600-19230000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:19229600-19245000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:19229800-19230600	Enhancers	Fetal Brain Male	brain
15	chr11:19230000-19231000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:19230400-19230600	Bivalent Enhancer	HSMMtube	muscle
17	chr11:19230400-19230800	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:19230400-19231200	Flanking Active TSS	Fetal Heart	heart
19	chr11:19230400-19231400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:19230400-19231600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:19230400-19231600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:19230600-19230800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr11:19230600-19230800	Enhancers	HSMMtube	muscle
24	chr11:19230600-19231200	Enhancers	Psoas Muscle	Psoas
25	chr11:19230600-19231600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:19230600-19231600	Enhancers	Fetal Lung	lung
27	chr11:19230600-19231800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:19230800-19231200	Flanking Active TSS	HSMMtube	muscle
29	chr11:19230800-19231600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:19230800-19231600	Enhancers	Fetal Muscle Leg	muscle
31	chr11:19230800-19231600	Bivalent Enhancer	HSMM	muscle
32	chr11:19231000-19231200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:19231000-19231600	Enhancers	Placenta	Placenta
34	chr11:19231000-19231600	Enhancers	Gastric	stomach
35	chr11:19231000-19232000	Active TSS	Right Atrium	heart
36	chr11:19231200-19231400	Enhancers	Fetal Heart	heart
37	chr11:19231200-19231400	Enhancers	NHEK	skin
38	chr11:19231200-19231400	Bivalent Enhancer	Osteobl	bone
39	chr11:19231200-19231600	Enhancers	HSMMtube	muscle
40	chr11:19231200-19231800	Active TSS	Right Ventricle	heart
41	chr11:19231400-19231800	Flanking Active TSS	Fetal Heart	heart
42	chr11:19231600-19239000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:19231800-19233800	Enhancers	Fetal Heart	heart
44	chr11:19232000-19242800	Weak transcription	Right Atrium	heart
45	chr11:19233800-19234800	Weak transcription	Fetal Heart	heart
46	chr11:19234800-19235400	Enhancers	Fetal Heart	heart
47	chr11:19235400-19239000	Weak transcription	Fetal Heart	heart
48	chr11:19237200-19237400	Enhancers	HSMM	muscle
49	chr11:19238000-19239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:19238000-19240000	Enhancers	HMEC	breast

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