Variant report

Variant	nsv896917
Chromosome Location	chr11:4917089-4935470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:244)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:4933823-4934021	A549	lung:	n/a	n/a
2	CEBPB	chr11:4933949-4933963	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:4933767-4934066	HepG2	liver:	n/a	n/a
4	FOS	chr11:4926466-4926666	MCF10A-Er-Src	breast:	n/a	chr11:4926511-4926521 chr11:4926512-4926520 chr11:4926513-4926520
5	JUND	chr11:4930069-4930298	H1-hESC	embryonic stem cell:	n/a	chr11:4930188-4930195 chr11:4930187-4930197 chr11:4930187-4930197 chr11:4930188-4930196 chr11:4930187-4930197 chr11:4930188-4930196 chr11:4930187-4930197
6	KAP1	chr11:4919333-4920042	K562	blood:	n/a	n/a
7	MAFF	chr11:4926947-4927181	HepG2	liver:	n/a	n/a
8	MAFF	chr11:4926928-4927116	K562	blood:	n/a	n/a
9	MAFK	chr11:4926882-4927214	HepG2	liver:	n/a	n/a
10	MAFK	chr11:4927065-4927100	K562	blood:	n/a	n/a
11	MAFK	chr11:4932386-4932432	HepG2	liver:	n/a	n/a
12	MAFK	chr11:4926916-4927175	HepG2	liver:	n/a	n/a
13	MAFK	chr11:4926919-4927192	IMR90	lung:	n/a	n/a
14	MAZ	chr11:4931959-4932086	HepG2	liver:	n/a	n/a
15	MYC	chr11:4924959-4924960	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr11:4927487-4927607	H1-hESC	embryonic stem cell:	n/a	n/a
17	NRF1	chr11:4932912-4932977	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:4919477-4919554	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:4923178-4923341	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:4920664-4920693	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:4929538-4929615	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:4924851-4925042	MCF10A-Er-Src	breast:	n/a	n/a
23	SETDB1	chr11:4919370-4919850	U2OS	brain:	n/a	n/a
24	STAT3	chr11:4930775-4931160	MCF10A-Er-Src	breast:	n/a	chr11:4930792-4930799
25	STAT3	chr11:4935186-4935386	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr11:4919302-4919692	MCF10A-Er-Src	breast:	n/a	n/a
27	TBL1XR1	chr11:4919644-4919668	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4927915-4927965	AG09309	skin:	n/a
2	chr11:4928760-4928810	AG04450	lung:	fetal
3	chr11:4928572-4928622	HEK293	kidney:	embryo
4	chr11:4927915-4927965	HEEpiC	esophagus:	n/a
5	chr11:4928579-4928629	HUVEC	blood vessel:	n/a
6	chr11:4928760-4928810	A549	lung:	n/a
7	chr11:4928572-4928622	NH-A	brain:	n/a
8	chr11:4927915-4927965	CMK	blood:	n/a
9	chr11:4927915-4927965	HAEpiC	amniotic membrane:	n/a
10	chr11:4928579-4928629	SKMC	muscle:	n/a
11	chr11:4927915-4927965	ovcar-3	ovarian:	n/a
12	chr11:4928760-4928810	HCPEpiC	choroid plexus:	n/a
13	chr11:4928572-4928622	HRPEpiC	eye:	n/a
14	chr11:4928579-4928629	ECC-1	luminal epithelium:	n/a
15	chr11:4928760-4928810	NB4	blood:	n/a
16	chr11:4928760-4928810	HL-60	blood:	n/a
17	chr11:4927915-4927965	ECC-1	luminal epithelium:	n/a
18	chr11:4928760-4928810	HCF	heart:	n/a
19	chr11:4928760-4928810	AoSMC	blood vessel:	n/a
20	chr11:4927915-4927965	AG09319	gingival:	n/a
21	chr11:4927915-4927965	HIPEpiC	eye:	n/a
22	chr11:4928579-4928629	NB4	blood:	n/a
23	chr11:4928572-4928622	GM12891	blood:	n/a
24	chr11:4928579-4928629	HCT-116	colon:	n/a
25	chr11:4928579-4928629	BJ	skin:	n/a
26	chr11:4928760-4928810	NH-A	brain:	n/a
27	chr11:4928579-4928629	Hela-S3	cervix:	n/a
28	chr11:4928579-4928629	Jurkat	blood:	n/a
29	chr11:4928760-4928810	Caco-2	colon:	n/a
30	chr11:4927915-4927965	GM19239	blood:	n/a
31	chr11:4927915-4927965	HMEC	breast:	n/a
32	chr11:4928572-4928622	HAEpiC	amniotic membrane:	n/a
33	chr11:4928760-4928810	Jurkat	blood:	n/a
34	chr11:4928579-4928629	ProgFib	skin:	n/a
35	chr11:4928572-4928622	HCPEpiC	choroid plexus:	n/a
36	chr11:4928572-4928622	SAEC	small airway:	n/a
37	chr11:4928572-4928622	HUVEC	blood vessel:	n/a
38	chr11:4928579-4928629	K562	blood:	n/a
39	chr11:4927915-4927965	MCF-7	breast:	n/a
40	chr11:4928572-4928622	Jurkat	blood:	n/a
41	chr11:4928572-4928622	U87	brain:	n/a
42	chr11:4928572-4928622	HL-60	blood:	n/a
43	chr11:4928572-4928622	HMEC	breast:	n/a
44	chr11:4928579-4928629	GM06990	blood:	n/a
45	chr11:4928579-4928629	HIPEpiC	eye:	n/a
46	chr11:4928572-4928622	GM12878	blood:	n/a
47	chr11:4928760-4928810	SK-N-SH_RA	brain:	n/a
48	chr11:4928572-4928622	GM19239	blood:	n/a
49	chr11:4928760-4928810	HIPEpiC	eye:	n/a
50	chr11:4927915-4927965	HCM	heart:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4912456..4914892-chr11:4916437..4919051,2	K562	blood:
2	11:4922308-4924766..11:5666977-5671653	K562	blood:
3	11:4922308-4924766..11:5714465-5718134	H1-hESC	embryonic stem cell:	embryo
4	chr11:4918642..4921294-chr11:5101983..5104188,2	K562	blood:
5	11:4930618-4934702..11:5714465-5718134	H1-hESC	embryonic stem cell:	embryo
6	11:4930618-4934702..11:4934702-4937867	H1-hESC	embryonic stem cell:	embryo
7	11:4789513-4794705..11:4930618-4934702	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
OR51A7	TF binding region
OR51A7	CpG island
ENSG00000176893	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000196565	chromatin interactions
ENSG00000132274	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143659574	chr11:4922321-4922322	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533784431	chr11:4922349-4922350	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555373529	chr11:4922364-4922365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573658398	chr11:4922378-4922379	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs78565511	chr11:4922379-4922380	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549345987	chr11:4922380-4922381	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs55678976	chr11:4922397-4922398	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112382561	chr11:4922412-4922413	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562631816	chr11:4922415-4922416	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs577816243	chr11:4922440-4922441	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186170184	chr11:4922449-4922450	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190754700	chr11:4922452-4922453	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs528532540	chr11:4922459-4922460	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368478294	chr11:4922467-4922468	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs71480739	chr11:4922479-4922480	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561778252	chr11:4922517-4922518	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112902560	chr11:4922532-4922533	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551300995	chr11:4922559-4922560	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34488057	chr11:4922614-4922615	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142793416	chr11:4922622-4922623	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540032152	chr11:4922680-4922681	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183271394	chr11:4922682-4922683	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11034581	chr11:4922739-4922740	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566592977	chr11:4922750-4922751	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs75261887	chr11:4922751-4922752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs555487905	chr11:4922763-4922764	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185675120	chr11:4922786-4922787	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567312599	chr11:4922865-4922866	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60987573	chr11:4922871-4922872	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568719672	chr11:4922881-4922882	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190676276	chr11:4922894-4922895	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556426684	chr11:4922899-4922900	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200805258	chr11:4922909-4922910	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2442407	chr11:4922916-4922917	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575766494	chr11:4922917-4922918	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183227835	chr11:4922955-4922956	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7945056	chr11:4922963-4922964	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571406744	chr11:4922972-4922973	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571890157	chr11:4922993-4922994	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540366105	chr11:4922997-4922998	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7945072	chr11:4923000-4923001	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143389636	chr11:4923022-4923023	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs529289558	chr11:4923030-4923031	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147443785	chr11:4923128-4923129	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7932429	chr11:4923165-4923166	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs199936288	chr11:4923173-4923174	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7935375	chr11:4923182-4923183	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552080680	chr11:4923198-4923199	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567105254	chr11:4923209-4923210	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs527879918	chr11:4923246-4923247	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Esophageal adenocarcinoma	18519675	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4928400-4929200	Weak transcription	Left Ventricle	heart
2	chr11:4929200-4929400	ZNF genes & repeats	Left Ventricle	heart
3	chr11:4930000-4930600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:4930400-4930800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:4930400-4930800	Enhancers	Primary B cells from cord blood	blood
6	chr11:4930400-4931000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:4930600-4931000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:4930800-4931400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:4934200-4936800	Weak transcription	Pancreas	Pancrea

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