Variant report

Variant	esv3509522
Chromosome Location	chr11:18159957-18188401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:18166100-18166164	GM12878	blood:	n/a	n/a
2	CBX3	chr11:18165709-18166352	HCT-116	colon:	n/a	n/a
3	CHD2	chr11:18169620-18169896	K562	blood:	n/a	n/a
4	CTCF	chr11:18166703-18166827	Gliobla	brain:	n/a	n/a
5	CTCF	chr11:18166560-18166710	HCM	heart:	n/a	n/a
6	CTCF	chr11:18166674-18166868	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:18166640-18166790	A549	lung:	n/a	n/a
8	CTCF	chr11:18166640-18166790	AG09319	gingival:	n/a	n/a
9	CTCF	chr11:18166600-18166750	NHLF	lung:	n/a	n/a
10	CTCF	chr11:18166640-18166790	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr11:18166680-18166830	HRE	kidney:	n/a	n/a
12	CTCF	chr11:18166680-18166830	HFF	foreskin:	n/a	n/a
13	CTCF	chr11:18166386-18167177	A549	lung:	n/a	n/a
14	CTCF	chr11:18166655-18166829	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:18166700-18166850	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr11:18166439-18167039	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr11:18166652-18166816	A549	lung:	n/a	n/a
18	CTCF	chr11:18166683-18166721	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr11:18166680-18166830	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr11:18166700-18166850	HMF	breast:	n/a	n/a
21	CTCF	chr11:18166658-18166985	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:18166620-18166770	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr11:18166660-18166810	NB4	blood:	n/a	n/a
24	CTCF	chr11:18166677-18166882	GM12878	blood:	n/a	n/a
25	CTCF	chr11:18166690-18166802	K562	blood:	n/a	n/a
26	CTCF	chr11:18168566-18168609	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr11:18166660-18166810	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr11:18163213-18163272	GM10248	blood:	n/a	n/a
29	CTCF	chr11:18166568-18166942	HepG2	liver:	n/a	n/a
30	CTCF	chr11:18166716-18166857	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr11:18166680-18166830	GM06990	blood:	n/a	n/a
32	CTCF	chr11:18169900-18170050	K562	blood:	n/a	n/a
33	CTCF	chr11:18166728-18166767	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr11:18166621-18166899	IMR90	lung:	n/a	n/a
35	CTCF	chr11:18166719-18166820	K562	blood:	n/a	n/a
36	CTCF	chr11:18166720-18166870	GM12874	blood:	n/a	n/a
37	CTCF	chr11:18166720-18166870	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr11:18166743-18166794	GM13977	blood:	n/a	n/a
39	CTCF	chr11:18166620-18166770	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:18169760-18169910	GM12873	blood:	n/a	n/a
41	CTCF	chr11:18166660-18166810	AG04450	lung:	n/a	n/a
42	CTCF	chr11:18166583-18166850	HepG2	liver:	n/a	n/a
43	CTCF	chr11:18166760-18166910	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr11:18166711-18166811	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:18166660-18166810	A549	lung:	n/a	n/a
46	CTCF	chr11:18166740-18166890	RPTEC	kidney:	n/a	n/a
47	CTCF	chr11:18166660-18166810	GM12869	blood:	n/a	n/a
48	CTCF	chr11:18166620-18166770	GM12875	blood:	n/a	n/a
49	CTCF	chr11:18166640-18166790	GM12864	blood:	n/a	n/a
50	CTCF	chr11:18166640-18166790	GM12872	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18172905-18172955	AoSMC	blood vessel:	n/a
2	chr11:18172905-18172955	HL-60	blood:	n/a
3	chr11:18172905-18172955	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:18172905-18172955	SK-N-MC	brain:	n/a
5	chr11:18172905-18172955	MCF-7	breast:	n/a
6	chr11:18172905-18172955	HepG2	liver:	n/a
7	chr11:18172905-18172955	T-47D	breast:	n/a
8	chr11:18172905-18172955	AG10803	skin:	n/a
9	chr11:18172905-18172955	PANC-1	pancreas:	n/a
10	chr11:18172905-18172955	LNCaP	prostate:	n/a
11	chr11:18172905-18172955	BJ	skin:	n/a
12	chr11:18172905-18172955	HEEpiC	esophagus:	n/a
13	chr11:18172905-18172955	HCF	heart:	n/a
14	chr11:18172905-18172955	ProgFib	skin:	n/a
15	chr11:18172905-18172955	A549	lung:	n/a
16	chr11:18172905-18172955	NH-A	brain:	n/a
17	chr11:18172905-18172955	HNPCEpiC	eye:	n/a
18	chr11:18172905-18172955	Jurkat	blood:	n/a
19	chr11:18172905-18172955	HCPEpiC	choroid plexus:	n/a
20	chr11:18172905-18172955	U87	brain:	n/a
21	chr11:18172905-18172955	HCM	heart:	n/a
22	chr11:18172905-18172955	HEK293	kidney:	embryo
23	chr11:18172905-18172955	HCT-116	colon:	n/a
24	chr11:18172905-18172955	AG09309	skin:	n/a
25	chr11:18172905-18172955	NT2-D1	testis:	n/a
26	chr11:18172905-18172955	CMK	blood:	n/a
27	chr11:18172905-18172955	NB4	blood:	n/a
28	chr11:18172905-18172955	BE2_C	brain:	n/a
29	chr11:18172905-18172955	IMR90	lung:	fetal
30	chr11:18172905-18172955	GM12892	blood:	n/a
31	chr11:18172905-18172955	Caco-2	colon:	n/a
32	chr11:18172905-18172955	Hepatocyte	liver:	n/a
33	chr11:18172905-18172955	HMEC	breast:	n/a
34	chr11:18172905-18172955	SKMC	muscle:	n/a
35	chr11:18172905-18172955	HRCEpiC	kidney:	n/a
36	chr11:18172905-18172955	SK-N-SH	brain:	n/a
37	chr11:18172905-18172955	NHDF-neo	bronchial:	n/a
38	chr11:18172905-18172955	RPTEC	kidney:	n/a
39	chr11:18172905-18172955	PFSK-1	brain:	n/a
40	chr11:18172905-18172955	GM12891	blood:	n/a
41	chr11:18172905-18172955	HAEpiC	amniotic membrane:	n/a
42	chr11:18172905-18172955	K562	blood:	n/a
43	chr11:18172905-18172955	HUVEC	blood vessel:	n/a
44	chr11:18172905-18172955	ECC-1	luminal epithelium:	n/a
45	chr11:18172905-18172955	GM12878	blood:	n/a
46	chr11:18172905-18172955	ovcar-3	ovarian:	n/a
47	chr11:18172905-18172955	HRE	kidney:	n/a
48	chr11:18172905-18172955	Hela-S3	cervix:	n/a
49	chr11:18172905-18172955	HIPEpiC	eye:	n/a
50	chr11:18172905-18172955	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:18158132..18160556-chr11:18162021..18163694,2	K562	blood:
2	chr11:18013193..18013909-chr11:18166278..18166794,2	MCF-7	breast:
3	chr11:18158132..18160556-chr11:18162021..18163694,2	K562	blood:
4	chr11:18173467..18175393-chr11:18177019..18179182,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRGPRX3-2	chr11:18174824-18175802	NONHSAT018264

No data

Variant related genes	Relation type
ENSG00000254857	TF binding region
ENSG00000254857	CpG island
ENSG00000254857	chromatin interactions

Extended variants
information (count: 651 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549006486	chr11:18159996-18159997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371432265	chr11:18160017-18160018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142430787	chr11:18160020-18160021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533852075	chr11:18160108-18160109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549604134	chr11:18160127-18160128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7947019	chr11:18160131-18160132	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs571286534	chr11:18160218-18160219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538308882	chr11:18160220-18160221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2445155	chr11:18160233-18160234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576551828	chr11:18160310-18160311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537696443	chr11:18160324-18160325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547686289	chr11:18160333-18160334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201246737	chr11:18160349-18160350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386751137	chr11:18160351-18160352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76099957	chr11:18160352-18160353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373875747	chr11:18160354-18160355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577615788	chr11:18160361-18160362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142951085	chr11:18160386-18160387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563855198	chr11:18160390-18160391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55750405	chr11:18160457-18160458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150409264	chr11:18160458-18160459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570206869	chr11:18160486-18160487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537528260	chr11:18160511-18160512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556026584	chr11:18160520-18160521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561082799	chr11:18160524-18160525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2468835	chr11:18160765-18160766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546919796	chr11:18160768-18160769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534869424	chr11:18160779-18160780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138310492	chr11:18160796-18160797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576718401	chr11:18160848-18160849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191853400	chr11:18160887-18160888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568960339	chr11:18160890-18160891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569080140	chr11:18160934-18160935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2445156	chr11:18160946-18160947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs555504091	chr11:18160952-18160953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182131082	chr11:18161015-18161016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555538887	chr11:18161017-18161018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536500934	chr11:18161057-18161058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553295032	chr11:18161074-18161075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577958318	chr11:18161095-18161096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113485881	chr11:18161139-18161140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557161661	chr11:18161234-18161235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554642469	chr11:18161313-18161314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185791547	chr11:18161325-18161326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578146619	chr11:18161335-18161336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543167261	chr11:18161341-18161342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370788973	chr11:18161390-18161391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561018351	chr11:18161394-18161395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528305009	chr11:18161434-18161435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190280969	chr11:18161448-18161449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18156400-18161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:18157200-18165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:18164000-18164200	Weak transcription	NHEK	skin
4	chr11:18164000-18166000	Enhancers	HMEC	breast
5	chr11:18164200-18164600	ZNF genes & repeats	NHEK	skin
6	chr11:18164600-18164800	Weak transcription	NHEK	skin
7	chr11:18164800-18166600	Enhancers	NHEK	skin
8	chr11:18165600-18166200	Enhancers	HUVEC	blood vessel
9	chr11:18165600-18166800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:18166000-18166400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:18166000-18166800	ZNF genes & repeats	HMEC	breast
12	chr11:18166800-18168400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:18167400-18167800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:18172400-18173600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr11:18172600-18173400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:18172800-18174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:18175200-18175400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:18177800-18178000	Enhancers	Pancreas	Pancrea
19	chr11:18180600-18180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:18182000-18182200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:18186800-18187200	Active TSS	GM12878-XiMat	blood

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