Variant report

Variant	nsv825770
Chromosome Location	chr11:16908083-16912537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:16911465-16911833	HepG2	liver:	n/a	n/a
2	CBX3	chr11:16911400-16911870	HCT-116	colon:	n/a	n/a
3	CBX3	chr11:16911320-16911941	HCT-116	colon:	n/a	n/a
4	CBX3	chr11:16910518-16910816	K562	blood:	n/a	n/a
5	FOS	chr11:16912025-16912362	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr11:16912011-16912359	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:16912007-16912387	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:16911878-16912357	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL2	chr11:16910509-16910887	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:16911880-16912168	T-47D	breast:	n/a	n/a
11	FOXA2	chr11:16908271-16908464	HepG2	liver:	n/a	n/a
12	GATA2	chr11:16910480-16910806	K562	blood:	n/a	n/a
13	GATA3	chr11:16911812-16912288	T-47D	breast:	n/a	n/a
14	GATA3	chr11:16911837-16912252	T-47D	breast:	n/a	n/a
15	IRF1	chr11:16911944-16911986	K562	blood:	n/a	n/a
16	IRF1	chr11:16911957-16912137	K562	blood:	n/a	n/a
17	JUN	chr11:16912234-16912300	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr11:16910584-16910774	HepG2	liver:	n/a	n/a
19	KAP1	chr11:16911299-16911868	HEK293	kidney:	n/a	n/a
20	MAFF	chr11:16911430-16911663	HepG2	liver:	n/a	chr11:16911495-16911513
21	MAFK	chr11:16911460-16911664	HepG2	liver:	n/a	chr11:16911496-16911511
22	MAFK	chr11:16911414-16911647	HepG2	liver:	n/a	chr11:16911496-16911511
23	NR2F2	chr11:16910027-16910320	K562	blood:	n/a	n/a
24	NR3C1	chr11:16910473-16910967	A549	lung:	n/a	n/a
25	NR3C1	chr11:16910448-16910875	A549	lung:	n/a	n/a
26	PAX5	chr11:16908984-16909186	GM12878	blood:	n/a	n/a
27	RXRA	chr11:16910529-16910857	HepG2	liver:	n/a	n/a
28	SETDB1	chr11:16911175-16912088	U2OS	brain:	n/a	n/a
29	SP1	chr11:16910493-16911020	HepG2	liver:	n/a	n/a
30	STAT3	chr11:16912060-16912438	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr11:16912187-16912334	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr11:16911995-16912484	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:16911907-16912477	MCF10A-Er-Src	breast:	n/a	n/a
34	USF1	chr11:16911410-16911824	A549	lung:	n/a	n/a
35	USF1	chr11:16910634-16910758	HepG2	liver:	n/a	n/a
36	USF1	chr11:16910602-16910806	HepG2	liver:	n/a	n/a
37	ZNF143	chr11:16911502-16911674	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:16909174-16909224	HepG2	liver:	n/a
2	chr11:16909174-16909224	GM12891	blood:	n/a
3	chr11:16909174-16909224	SK-N-SH_RA	brain:	n/a
4	chr11:16909174-16909224	GM12878	blood:	n/a
5	chr11:16909174-16909224	PrEC	prostate:	n/a
6	chr11:16909174-16909224	HRE	kidney:	n/a
7	chr11:16909174-16909224	HRCEpiC	kidney:	n/a
8	chr11:16909174-16909224	Jurkat	blood:	n/a
9	chr11:16909174-16909224	BJ	skin:	n/a
10	chr11:16909174-16909224	PFSK-1	brain:	n/a
11	chr11:16909174-16909224	GM19239	blood:	n/a
12	chr11:16909174-16909224	SAEC	small airway:	n/a
13	chr11:16909174-16909224	AG04449	skin:	fetal
14	chr11:16909174-16909224	HL-60	blood:	n/a
15	chr11:16909174-16909224	BE2_C	brain:	n/a
16	chr11:16909174-16909224	Hela-S3	cervix:	n/a
17	chr11:16909174-16909224	NHBE	bronchial:	n/a
18	chr11:16909174-16909224	LNCaP	prostate:	n/a
19	chr11:16909174-16909224	T-47D	breast:	n/a
20	chr11:16909174-16909224	Hepatocyte	liver:	n/a
21	chr11:16909174-16909224	ovcar-3	ovarian:	n/a
22	chr11:16909174-16909224	NB4	blood:	n/a
23	chr11:16909174-16909224	U87	brain:	n/a
24	chr11:16909174-16909224	HCF	heart:	n/a
25	chr11:16909174-16909224	ProgFib	skin:	n/a
26	chr11:16909174-16909224	HCT-116	colon:	n/a
27	chr11:16909174-16909224	HNPCEpiC	eye:	n/a
28	chr11:16909174-16909224	A549	lung:	n/a
29	chr11:16909174-16909224	HAEpiC	amniotic membrane:	n/a
30	chr11:16909174-16909224	K562	blood:	n/a
31	chr11:16909174-16909224	AG09319	gingival:	n/a
32	chr11:16909174-16909224	GM12892	blood:	n/a
33	chr11:16909174-16909224	AG10803	skin:	n/a
34	chr11:16909174-16909224	SK-N-MC	brain:	n/a
35	chr11:16909174-16909224	NHDF-neo	bronchial:	n/a
36	chr11:16909174-16909224	Caco-2	colon:	n/a
37	chr11:16909174-16909224	HEEpiC	esophagus:	n/a
38	chr11:16909174-16909224	NT2-D1	testis:	n/a
39	chr11:16909174-16909224	SK-N-SH	brain:	n/a
40	chr11:16909174-16909224	CMK	blood:	n/a
41	chr11:16909174-16909224	HIPEpiC	eye:	n/a
42	chr11:16909174-16909224	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:16909174-16909224	MCF10A-Er-Src	breast:	n/a
44	chr11:16909174-16909224	GM06990	blood:	n/a
45	chr11:16909174-16909224	HRPEpiC	eye:	n/a
46	chr11:16909174-16909224	ECC-1	luminal epithelium:	n/a
47	chr11:16909174-16909224	SKMC	muscle:	n/a
48	chr11:16909174-16909224	RPTEC	kidney:	n/a
49	chr11:16909174-16909224	MCF-7	breast:	n/a
50	chr11:16909174-16909224	NH-A	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16910866..16914588-chr11:16915188..16918653,3	MCF-7	breast:
2	chr11:16912383..16915251-chr11:16918244..16921230,3	K562	blood:
3	chr11:16912383..16915657-chr11:16918244..16920114,3	K562	blood:
4	chr11:16903057..16904969-chr11:16906210..16908722,2	K562	blood:

No data

Variant related genes	Relation type
PLEKHA7	TF binding region
PLEKHA7	CpG island
ENSG00000166689	chromatin interactions

Extended variants
information (count: 265 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542436013	chr11:16908090-16908091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181287541	chr11:16908122-16908123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527958206	chr11:16908158-16908159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545820502	chr11:16908182-16908183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563942201	chr11:16908206-16908207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540228960	chr11:16908215-16908216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140504999	chr11:16908231-16908232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531181800	chr11:16908245-16908246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199606168	chr11:16908257-16908258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566460590	chr11:16908258-16908259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs80084320	chr11:16908260-16908261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76331726	chr11:16908261-16908262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35564863	chr11:16908276-16908277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61882032	chr11:16908280-16908281	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186386098	chr11:16908316-16908317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145238867	chr11:16908324-16908325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540930103	chr11:16908326-16908327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547167469	chr11:16908467-16908468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543172592	chr11:16908476-16908477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565997080	chr11:16908539-16908540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12785711	chr11:16908549-16908550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558001717	chr11:16908560-16908561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114969501	chr11:16908563-16908564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11024070	chr11:16908587-16908588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538199305	chr11:16908607-16908608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556732498	chr11:16908638-16908639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529886298	chr11:16908656-16908657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574985443	chr11:16908672-16908673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189763586	chr11:16908700-16908701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554058914	chr11:16908745-16908746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182304057	chr11:16908747-16908748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184985913	chr11:16908776-16908777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532262566	chr11:16908792-16908793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191079924	chr11:16908798-16908799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531215795	chr11:16908810-16908811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573881034	chr11:16908829-16908830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67257616	chr11:16908849-16908850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560295821	chr11:16908869-16908870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530198413	chr11:16908877-16908878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561474019	chr11:16908880-16908881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563735882	chr11:16908881-16908882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28540642	chr11:16908906-16908907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1635178	chr11:16908929-16908930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111636164	chr11:16908947-16908948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61496580	chr11:16908952-16908953	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113928197	chr11:16908972-16908973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533101023	chr11:16908993-16908994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193018446	chr11:16909012-16909013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569954013	chr11:16909017-16909018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538291514	chr11:16909030-16909031	ZNF genes & repeats Weak transcription	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
small cell lung cancer	20016488	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
T-cell prolymphocytic leukemia	19278963	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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16898400-16908400	Weak transcription	HepG2	liver
2	chr11:16903200-16908800	Weak transcription	Fetal Intestine Small	intestine
3	chr11:16903600-16908800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:16903600-16914400	Weak transcription	Right Atrium	heart
5	chr11:16905200-16909000	Weak transcription	Esophagus	oesophagus
6	chr11:16905200-16909200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:16905200-16909200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:16905200-16913600	Weak transcription	Gastric	stomach
9	chr11:16905200-16913600	Weak transcription	Pancreas	Pancrea
10	chr11:16908000-16911600	Weak transcription	Fetal Heart	heart
11	chr11:16908400-16908600	Enhancers	HepG2	liver
12	chr11:16908600-16909000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:16908800-16909400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr11:16908800-16910000	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr11:16909000-16909200	ZNF genes & repeats	Esophagus	oesophagus
16	chr11:16909200-16909800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:16909200-16910000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:16909600-16909800	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr11:16909600-16910000	Enhancers	Lung	lung
20	chr11:16910000-16913600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:16910000-16917800	Weak transcription	Lung	lung
22	chr11:16911000-16911200	Weak transcription	A549	lung
23	chr11:16911200-16911400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:16911200-16912200	ZNF genes & repeats	A549	lung
25	chr11:16911200-16916000	Enhancers	Stomach Mucosa	stomach
26	chr11:16911400-16912000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:16911600-16912200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:16911600-16913000	Enhancers	Fetal Heart	heart
29	chr11:16911600-16914800	Weak transcription	Fetal Intestine Small	intestine
30	chr11:16911800-16912400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:16911800-16912400	Enhancers	Liver	Liver
32	chr11:16912000-16912200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:16912200-16912600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:16912200-16914400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:16912200-16923600	Weak transcription	A549	lung
36	chr11:16912400-16914000	Enhancers	Placenta	Placenta
37	chr11:16912400-16919400	Weak transcription	Liver	Liver

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