Variant report

Variant	nsv1053297
Chromosome Location	chr11:4659187-4670621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:549)
Chromatin interactive
region (count:2)
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	BHLHE40	chr11:4658886-4659215	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:4661402-4661517	K562	blood:	n/a	n/a
3	CHD2	chr11:4664571-4664584	K562	blood:	n/a	n/a
4	CHD2	chr11:4665805-4665840	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:4667940-4668090	GM12867	blood:	n/a	n/a
6	CTCF	chr11:4669319-4669358	GM20000	blood:	n/a	n/a
7	CTCF	chr11:4659080-4659230	GM12867	blood:	n/a	n/a
8	CTCF	chr11:4659779-4659790	GM13976	blood:	n/a	n/a
9	CTCF	chr11:4664480-4664630	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr11:4659040-4659190	AG09319	gingival:	n/a	n/a
11	CUX1	chr11:4664878-4664915	K562	blood:	n/a	n/a
12	EBF1	chr11:4664412-4664670	GM12878	blood:	n/a	chr11:4664544-4664554 chr11:4664544-4664553 chr11:4664544-4664553 chr11:4664542-4664555
13	EBF1	chr11:4663687-4664062	GM12878	blood:	n/a	n/a
14	JUN	chr11:4668373-4668593	HepG2	liver:	n/a	chr11:4668483-4668496
15	JUND	chr11:4668422-4668622	HepG2	liver:	n/a	n/a
16	MAFK	chr11:4661303-4661388	Hela-S3	cervix:	n/a	n/a
17	NRF1	chr11:4659230-4659301	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:4669961-4670161	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:4666621-4666800	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:4666559-4666622	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr11:4660793-4660940	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr11:4664122-4664294	MCF10A-Er-Src	breast:	n/a	n/a
23	TAL1	chr11:4661409-4661531	K562	blood:	n/a	n/a
24	TEAD4	chr11:4662699-4663186	ECC-1	luminal epithelium:	n/a	n/a
25	TEAD4	chr11:4662707-4663073	H1-hESC	embryonic stem cell:	n/a	n/a
26	TEAD4	chr11:4662671-4663106	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF384	chr11:4664987-4664999	GM12878	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4661335-4661385	HRPEpiC	eye:	n/a
2	chr11:4666412-4666462	BJ	skin:	n/a
3	chr11:4661335-4661385	SKMC	muscle:	n/a
4	chr11:4661207-4661257	NH-A	brain:	n/a
5	chr11:4661207-4661257	HRPEpiC	eye:	n/a
6	chr11:4665002-4665052	GM12892	blood:	n/a
7	chr11:4664117-4664167	GM12892	blood:	n/a
8	chr11:4661207-4661257	HRE	kidney:	n/a
9	chr11:4666412-4666462	GM12891	blood:	n/a
10	chr11:4665002-4665052	HCPEpiC	choroid plexus:	n/a
11	chr11:4664117-4664167	SK-N-SH	brain:	n/a
12	chr11:4664220-4664270	NH-A	brain:	n/a
13	chr11:4665165-4665215	HUVEC	blood vessel:	n/a
14	chr11:4661207-4661257	SAEC	small airway:	n/a
15	chr11:4665002-4665052	SAEC	small airway:	n/a
16	chr11:4666412-4666462	HRPEpiC	eye:	n/a
17	chr11:4659811-4659861	AoSMC	blood vessel:	n/a
18	chr11:4666412-4666462	A549	lung:	n/a
19	chr11:4665002-4665052	AG09319	gingival:	n/a
20	chr11:4664220-4664270	HRE	kidney:	n/a
21	chr11:4665165-4665215	MCF-7	breast:	n/a
22	chr11:4665002-4665052	A549	lung:	n/a
23	chr11:4661207-4661257	AG04449	skin:	fetal
24	chr11:4659811-4659861	NHBE	bronchial:	n/a
25	chr11:4664117-4664167	HRE	kidney:	n/a
26	chr11:4665165-4665215	A549	lung:	n/a
27	chr11:4661335-4661385	RPTEC	kidney:	n/a
28	chr11:4666412-4666462	HEEpiC	esophagus:	n/a
29	chr11:4664117-4664167	AG09319	gingival:	n/a
30	chr11:4659811-4659861	HCM	heart:	n/a
31	chr11:4664220-4664270	BJ	skin:	n/a
32	chr11:4664220-4664270	MCF-7	breast:	n/a
33	chr11:4661207-4661257	H1-hESC	embryonic stem cell:	embryo
34	chr11:4665002-4665052	AG10803	skin:	n/a
35	chr11:4664117-4664167	H1-hESC	embryonic stem cell:	embryo
36	chr11:4659811-4659861	HRCEpiC	kidney:	n/a
37	chr11:4664220-4664270	HMEC	breast:	n/a
38	chr11:4664220-4664270	AoSMC	blood vessel:	n/a
39	chr11:4665002-4665052	MCF-7	breast:	n/a
40	chr11:4661335-4661385	HCT-116	colon:	n/a
41	chr11:4666412-4666462	SK-N-SH_RA	brain:	n/a
42	chr11:4666412-4666462	AG10803	skin:	n/a
43	chr11:4661335-4661385	CMK	blood:	n/a
44	chr11:4664220-4664270	HAEpiC	amniotic membrane:	n/a
45	chr11:4664117-4664167	CMK	blood:	n/a
46	chr11:4664117-4664167	NHDF-neo	bronchial:	n/a
47	chr11:4661335-4661385	HCM	heart:	n/a
48	chr11:4666412-4666462	HUVEC	blood vessel:	n/a
49	chr11:4661207-4661257	GM19239	blood:	n/a
50	chr11:4666412-4666462	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4667581..4670496-chr11:4674502..4676349,2	K562	blood:
2	chr11:4658042..4658694-chr11:4667228..4668066,2	K562	blood:

No data

Variant related genes	Relation type
OR51E1	TF binding region
OR51D1	TF binding region
OR51E1	CpG island
OR51D1	CpG island

Extended variants
information (count: 522 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4625457	chr11:4659187-4659188	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548398343	chr11:4659188-4659189	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559330358	chr11:4659190-4659191	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575915275	chr11:4659304-4659305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117517955	chr11:4659343-4659344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543254682	chr11:4659348-4659349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537089682	chr11:4659381-4659382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558822999	chr11:4659383-4659384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570840284	chr11:4659411-4659412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1908177	chr11:4659419-4659420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs149047761	chr11:4659429-4659430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35241644	chr11:4659436-4659437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147098344	chr11:4659449-4659450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557132673	chr11:4659522-4659523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572103958	chr11:4659590-4659591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575307229	chr11:4659650-4659651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545842121	chr11:4659669-4659670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71466192	chr11:4659706-4659707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34272425	chr11:4659707-4659708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398044973	chr11:4659709-4659710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397769189	chr11:4659711-4659712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564356276	chr11:4659713-4659714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373745677	chr11:4659746-4659747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528353667	chr11:4659764-4659765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200553831	chr11:4659778-4659779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540179577	chr11:4659811-4659812	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
27	rs561876510	chr11:4659831-4659832	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
28	rs11033126	chr11:4659858-4659859	Weak transcription	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs548269698	chr11:4659920-4659921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186800769	chr11:4659988-4659989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189975349	chr11:4660004-4660005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75267306	chr11:4660005-4660006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199985597	chr11:4660017-4660018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11033127	chr11:4660020-4660021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368816244	chr11:4660026-4660027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528260789	chr11:4660053-4660054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59519154	chr11:4660074-4660075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11033128	chr11:4660093-4660094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182612486	chr11:4660111-4660112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535720328	chr11:4660112-4660113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376644293	chr11:4660121-4660122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557070970	chr11:4660150-4660151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2412391	chr11:4660179-4660180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533313292	chr11:4660181-4660182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557759024	chr11:4660187-4660188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76080006	chr11:4660194-4660195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76376591	chr11:4660195-4660196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536967472	chr11:4660217-4660218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11606567	chr11:4660220-4660221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11033129	chr11:4660234-4660235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4658200-4659200	Enhancers	Placenta	Placenta
2	chr11:4658800-4659200	Enhancers	Adipose Nuclei	Adipose
3	chr11:4658800-4662600	Weak transcription	Right Ventricle	heart
4	chr11:4658800-4662800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:4658800-4663400	Weak transcription	Right Atrium	heart
6	chr11:4658800-4664000	Weak transcription	Ovary	ovary
7	chr11:4658800-4664400	Weak transcription	Left Ventricle	heart
8	chr11:4658800-4664600	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:4659000-4659200	Enhancers	Fetal Heart	heart
10	chr11:4659000-4663400	Weak transcription	Spleen	Spleen
11	chr11:4659200-4662600	Weak transcription	Fetal Heart	heart
12	chr11:4659200-4664000	Weak transcription	Placenta	Placenta
13	chr11:4660600-4660800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:4660800-4662600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:4662400-4663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:4662400-4664000	Enhancers	Adipose Nuclei	Adipose
17	chr11:4662600-4663400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:4662600-4663600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:4662600-4663600	Enhancers	Fetal Heart	heart
20	chr11:4662600-4663800	Enhancers	Right Ventricle	heart
21	chr11:4662800-4664000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:4663000-4663400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:4663000-4663600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:4663400-4663600	Enhancers	Right Atrium	heart
25	chr11:4663400-4663600	Enhancers	Spleen	Spleen
26	chr11:4663600-4663800	Enhancers	Fetal Muscle Trunk	muscle
27	chr11:4663600-4664400	Weak transcription	Right Atrium	heart
28	chr11:4663600-4664400	Weak transcription	Spleen	Spleen
29	chr11:4663600-4664800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:4663600-4665000	Weak transcription	Fetal Heart	heart
31	chr11:4663600-4665200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:4663800-4664200	Weak transcription	Right Ventricle	heart
33	chr11:4663800-4664600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:4663800-4665200	Enhancers	Fetal Muscle Leg	muscle
35	chr11:4664000-4664200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:4664000-4664600	Active TSS	Adipose Nuclei	Adipose
37	chr11:4664000-4664600	Enhancers	Placenta	Placenta
38	chr11:4664000-4664800	Enhancers	NHDF-Ad	bronchial
39	chr11:4664000-4665200	Enhancers	Ovary	ovary
40	chr11:4664200-4664600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:4664200-4664600	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:4664200-4664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:4664200-4664800	Enhancers	Right Ventricle	heart
44	chr11:4664400-4664600	Enhancers	Left Ventricle	heart
45	chr11:4664400-4664600	Enhancers	Psoas Muscle	Psoas
46	chr11:4664400-4664800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:4664400-4665400	Enhancers	Spleen	Spleen
48	chr11:4664400-4665600	Enhancers	Right Atrium	heart
49	chr11:4664600-4664800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr11:4664600-4665000	Active TSS	Left Ventricle	heart

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