Variant report

Variant	nsv1035551
Chromosome Location	chr11:4659858-4671465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:551)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:4661402-4661517	K562	blood:	n/a	n/a
2	CHD2	chr11:4664571-4664584	K562	blood:	n/a	n/a
3	CHD2	chr11:4665805-4665840	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:4667940-4668090	GM12867	blood:	n/a	n/a
5	CTCF	chr11:4664480-4664630	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr11:4669319-4669358	GM20000	blood:	n/a	n/a
7	CUX1	chr11:4664878-4664915	K562	blood:	n/a	n/a
8	EBF1	chr11:4663687-4664062	GM12878	blood:	n/a	n/a
9	EBF1	chr11:4664412-4664670	GM12878	blood:	n/a	chr11:4664544-4664554 chr11:4664544-4664553 chr11:4664544-4664553 chr11:4664542-4664555
10	JUN	chr11:4668373-4668593	HepG2	liver:	n/a	chr11:4668483-4668496
11	JUND	chr11:4668422-4668622	HepG2	liver:	n/a	n/a
12	MAFK	chr11:4661303-4661388	Hela-S3	cervix:	n/a	n/a
13	NFYB	chr11:4670625-4670825	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:4666559-4666622	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:4669961-4670161	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:4666621-4666800	GM12878	blood:	n/a	n/a
17	STAT3	chr11:4660793-4660940	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr11:4664122-4664294	MCF10A-Er-Src	breast:	n/a	n/a
19	TAL1	chr11:4661409-4661531	K562	blood:	n/a	n/a
20	TEAD4	chr11:4662707-4663073	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr11:4662671-4663106	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr11:4662699-4663186	ECC-1	luminal epithelium:	n/a	n/a
23	ZNF384	chr11:4664987-4664999	GM12878	blood:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4664117-4664167	K562	blood:	n/a
2	chr11:4666412-4666462	AoSMC	blood vessel:	n/a
3	chr11:4664117-4664167	K562	blood:	n/a
4	chr11:4666412-4666462	AoSMC	blood vessel:	n/a
5	chr11:4664117-4664167	HEK293	kidney:	embryo
6	chr11:4659811-4659861	AG09309	skin:	n/a
7	chr11:4666412-4666462	SAEC	small airway:	n/a
8	chr11:4659811-4659861	GM12891	blood:	n/a
9	chr11:4665165-4665215	K562	blood:	n/a
10	chr11:4666412-4666462	HAEpiC	amniotic membrane:	n/a
11	chr11:4660300-4660350	T-47D	breast:	n/a
12	chr11:4665165-4665215	SAEC	small airway:	n/a
13	chr11:4665165-4665215	HRCEpiC	kidney:	n/a
14	chr11:4664117-4664167	AG04449	skin:	fetal
15	chr11:4665002-4665052	AoSMC	blood vessel:	n/a
16	chr11:4664117-4664167	BE2_C	brain:	n/a
17	chr11:4661207-4661257	HRE	kidney:	n/a
18	chr11:4660300-4660350	NB4	blood:	n/a
19	chr11:4661207-4661257	U87	brain:	n/a
20	chr11:4660300-4660350	GM12891	blood:	n/a
21	chr11:4664220-4664270	NT2-D1	testis:	n/a
22	chr11:4664220-4664270	HMEC	breast:	n/a
23	chr11:4664117-4664167	Hepatocyte	liver:	n/a
24	chr11:4664117-4664167	HRE	kidney:	n/a
25	chr11:4659811-4659861	AG04450	lung:	fetal
26	chr11:4659811-4659861	HEK293	kidney:	embryo
27	chr11:4665002-4665052	HL-60	blood:	n/a
28	chr11:4661207-4661257	HCPEpiC	choroid plexus:	n/a
29	chr11:4665002-4665052	HUVEC	blood vessel:	n/a
30	chr11:4664220-4664270	BJ	skin:	n/a
31	chr11:4665002-4665052	PANC-1	pancreas:	n/a
32	chr11:4665002-4665052	HRE	kidney:	n/a
33	chr11:4665165-4665215	LNCaP	prostate:	n/a
34	chr11:4664220-4664270	RPTEC	kidney:	n/a
35	chr11:4664220-4664270	AG04450	lung:	fetal
36	chr11:4666412-4666462	HCT-116	colon:	n/a
37	chr11:4665165-4665215	ECC-1	luminal epithelium:	n/a
38	chr11:4664220-4664270	GM06990	blood:	n/a
39	chr11:4664220-4664270	SK-N-SH_RA	brain:	n/a
40	chr11:4666412-4666462	HepG2	liver:	n/a
41	chr11:4661207-4661257	NHBE	bronchial:	n/a
42	chr11:4660300-4660350	HRE	kidney:	n/a
43	chr11:4664220-4664270	AG09319	gingival:	n/a
44	chr11:4660300-4660350	HCT-116	colon:	n/a
45	chr11:4659811-4659861	NHDF-neo	bronchial:	n/a
46	chr11:4661207-4661257	HMEC	breast:	n/a
47	chr11:4659811-4659861	MCF-7	breast:	n/a
48	chr11:4660300-4660350	HCM	heart:	n/a
49	chr11:4661335-4661385	U87	brain:	n/a
50	chr11:4665165-4665215	MCF10A-Er-Src	breast:	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: 537 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:537 , 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	rs11033126	chr11:4659858-4659859	Weak transcription	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548269698	chr11:4659920-4659921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186800769	chr11:4659988-4659989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189975349	chr11:4660004-4660005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75267306	chr11:4660005-4660006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199985597	chr11:4660017-4660018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11033127	chr11:4660020-4660021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368816244	chr11:4660026-4660027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528260789	chr11:4660053-4660054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59519154	chr11:4660074-4660075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11033128	chr11:4660093-4660094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182612486	chr11:4660111-4660112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535720328	chr11:4660112-4660113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376644293	chr11:4660121-4660122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557070970	chr11:4660150-4660151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2412391	chr11:4660179-4660180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533313292	chr11:4660181-4660182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557759024	chr11:4660187-4660188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76080006	chr11:4660194-4660195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76376591	chr11:4660195-4660196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536967472	chr11:4660217-4660218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11606567	chr11:4660220-4660221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11033129	chr11:4660234-4660235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540481593	chr11:4660235-4660236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563581916	chr11:4660253-4660254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4910520	chr11:4660258-4660259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4910521	chr11:4660263-4660264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11824787	chr11:4660272-4660273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191222753	chr11:4660274-4660275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376511405	chr11:4660282-4660283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142657979	chr11:4660300-4660301	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs559089054	chr11:4660301-4660302	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs552253607	chr11:4660303-4660304	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs4910655	chr11:4660316-4660317	Weak transcription	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182726589	chr11:4660319-4660320	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
36	rs146899543	chr11:4660340-4660341	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
37	rs535183052	chr11:4660343-4660344	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
38	rs148367856	chr11:4660371-4660372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189041167	chr11:4660388-4660389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7937228	chr11:4660476-4660477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs78385157	chr11:4660506-4660507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117925506	chr11:4660616-4660617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575043511	chr11:4660643-4660644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557897840	chr11:4660712-4660713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10836399	chr11:4660721-4660722	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs533601023	chr11:4660723-4660724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141426406	chr11:4660740-4660741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573890031	chr11:4660777-4660778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544117542	chr11:4660840-4660841	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs562293500	chr11:4660856-4660857	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4658800-4662600	Weak transcription	Right Ventricle	heart
2	chr11:4658800-4662800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:4658800-4663400	Weak transcription	Right Atrium	heart
4	chr11:4658800-4664000	Weak transcription	Ovary	ovary
5	chr11:4658800-4664400	Weak transcription	Left Ventricle	heart
6	chr11:4658800-4664600	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:4659000-4663400	Weak transcription	Spleen	Spleen
8	chr11:4659200-4662600	Weak transcription	Fetal Heart	heart
9	chr11:4659200-4664000	Weak transcription	Placenta	Placenta
10	chr11:4660600-4660800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:4660800-4662600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:4662400-4663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:4662400-4664000	Enhancers	Adipose Nuclei	Adipose
14	chr11:4662600-4663400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:4662600-4663600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:4662600-4663600	Enhancers	Fetal Heart	heart
17	chr11:4662600-4663800	Enhancers	Right Ventricle	heart
18	chr11:4662800-4664000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:4663000-4663400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:4663000-4663600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:4663400-4663600	Enhancers	Right Atrium	heart
22	chr11:4663400-4663600	Enhancers	Spleen	Spleen
23	chr11:4663600-4663800	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:4663600-4664400	Weak transcription	Right Atrium	heart
25	chr11:4663600-4664400	Weak transcription	Spleen	Spleen
26	chr11:4663600-4664800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:4663600-4665000	Weak transcription	Fetal Heart	heart
28	chr11:4663600-4665200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:4663800-4664200	Weak transcription	Right Ventricle	heart
30	chr11:4663800-4664600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:4663800-4665200	Enhancers	Fetal Muscle Leg	muscle
32	chr11:4664000-4664200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:4664000-4664600	Active TSS	Adipose Nuclei	Adipose
34	chr11:4664000-4664600	Enhancers	Placenta	Placenta
35	chr11:4664000-4664800	Enhancers	NHDF-Ad	bronchial
36	chr11:4664000-4665200	Enhancers	Ovary	ovary
37	chr11:4664200-4664600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:4664200-4664600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:4664200-4664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:4664200-4664800	Enhancers	Right Ventricle	heart
41	chr11:4664400-4664600	Enhancers	Left Ventricle	heart
42	chr11:4664400-4664600	Enhancers	Psoas Muscle	Psoas
43	chr11:4664400-4664800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:4664400-4665400	Enhancers	Spleen	Spleen
45	chr11:4664400-4665600	Enhancers	Right Atrium	heart
46	chr11:4664600-4664800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:4664600-4665000	Active TSS	Left Ventricle	heart
48	chr11:4664600-4665000	Active TSS	Rectal Smooth Muscle	rectum
49	chr11:4664600-4665200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr11:4664600-4665800	Active TSS	Fetal Muscle Trunk	muscle

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