Variant report

Variant	nsv430316
Chromosome Location	chr11:5883444-5954814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:324)
CpG islands
(count:736)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:5912394-5912741	K562	blood:	n/a	n/a
3	ATF1	chr11:5893901-5893919	K562	blood:	n/a	n/a
4	BACH1	chr11:5949390-5949949	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:5949537-5949904	K562	blood:	n/a	n/a
6	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
7	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
8	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
11	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
12	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
13	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
14	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
15	CTCF	chr11:5912514-5912712	K562	blood:	n/a	n/a
16	CTCF	chr11:5912700-5912850	NB4	blood:	n/a	n/a
17	CTCF	chr11:5912760-5912910	GM12865	blood:	n/a	n/a
18	CTCF	chr11:5912484-5912731	HepG2	liver:	n/a	n/a
19	CTCF	chr11:5912560-5912710	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr11:5912540-5912690	K562	blood:	n/a	n/a
21	CTCF	chr11:5912640-5912790	HCT-116	colon:	n/a	n/a
22	CTCF	chr11:5918380-5918530	GM12873	blood:	n/a	n/a
23	CTCF	chr11:5912520-5912670	HMEC	breast:	n/a	n/a
24	CTCF	chr11:5912520-5912670	GM12874	blood:	n/a	n/a
25	CTCF	chr11:5912740-5912890	HAc	cerebellar:	n/a	n/a
26	CTCF	chr11:5912540-5912690	AG09319	gingival:	n/a	n/a
27	CTCF	chr11:5912820-5912970	AG04449	skin:	n/a	n/a
28	CTCF	chr11:5912580-5912730	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:5912540-5912690	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr11:5912920-5913070	GM12864	blood:	n/a	n/a
31	CTCF	chr11:5911866-5913034	A549	lung:	n/a	n/a
32	CTCF	chr11:5912540-5912690	GM06990	blood:	n/a	n/a
33	CTCF	chr11:5912512-5912699	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr11:5912640-5912790	NHLF	lung:	n/a	n/a
35	CTCF	chr11:5912560-5912710	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr11:5912880-5913030	GM12868	blood:	n/a	n/a
37	CTCF	chr11:5912540-5912690	HMF	breast:	n/a	n/a
38	CTCF	chr11:5912848-5912861	Gliobla	brain:	n/a	n/a
39	CTCF	chr11:5912860-5913010	GM12872	blood:	n/a	n/a
40	CTCF	chr11:5912520-5912670	HEK293	kidney:	n/a	n/a
41	CTCF	chr11:5912472-5912756	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr11:5912580-5912730	HPF	lung:	n/a	n/a
43	CTCF	chr11:5912540-5912690	AG09309	skin:	n/a	n/a
44	CTCF	chr11:5912915-5913006	GM13977	blood:	n/a	n/a
45	CTCF	chr11:5912560-5912710	Caco-2	colon:	n/a	n/a
46	CTCF	chr11:5912460-5912750	K562	blood:	n/a	n/a
47	CTCF	chr11:5912720-5912870	WI-38	lung:	n/a	n/a
48	CTCF	chr11:5912580-5912730	HMF	breast:	n/a	n/a
49	CTCF	chr11:5912480-5912630	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr11:5912538-5912688	LNCaP	prostate:	n/a	n/a

(count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5950357-5950407	HCF	heart:	n/a
2	chr11:5951833-5951883	PFSK-1	brain:	n/a
3	chr11:5950798-5950848	HRPEpiC	eye:	n/a
4	chr11:5952089-5952139	AoSMC	blood vessel:	n/a
5	chr11:5950357-5950407	HCF	heart:	n/a
6	chr11:5951833-5951883	PFSK-1	brain:	n/a
7	chr11:5950798-5950848	HRPEpiC	eye:	n/a
8	chr11:5952089-5952139	AoSMC	blood vessel:	n/a
9	chr11:5951316-5951366	NH-A	brain:	n/a
10	chr11:5951360-5951410	SK-N-SH	brain:	n/a
11	chr11:5950798-5950848	HRE	kidney:	n/a
12	chr11:5905892-5905942	SAEC	small airway:	n/a
13	chr11:5950798-5950848	AG09319	gingival:	n/a
14	chr11:5951360-5951410	NT2-D1	testis:	n/a
15	chr11:5905350-5905400	BJ	skin:	n/a
16	chr11:5951956-5952006	HRE	kidney:	n/a
17	chr11:5951048-5951098	HRCEpiC	kidney:	n/a
18	chr11:5951956-5952006	HCF	heart:	n/a
19	chr11:5905892-5905942	Caco-2	colon:	n/a
20	chr11:5905892-5905942	NHBE	bronchial:	n/a
21	chr11:5950357-5950407	SKMC	muscle:	n/a
22	chr11:5952089-5952139	HRPEpiC	eye:	n/a
23	chr11:5951360-5951410	ECC-1	luminal epithelium:	n/a
24	chr11:5951433-5951483	AG10803	skin:	n/a
25	chr11:5905350-5905400	NHBE	bronchial:	n/a
26	chr11:5950798-5950848	U87	brain:	n/a
27	chr11:5950798-5950848	MCF-7	breast:	n/a
28	chr11:5905350-5905400	CMK	blood:	n/a
29	chr11:5951316-5951366	H1-hESC	embryonic stem cell:	embryo
30	chr11:5950357-5950407	GM12878	blood:	n/a
31	chr11:5951048-5951098	NHBE	bronchial:	n/a
32	chr11:5905892-5905942	ovcar-3	ovarian:	n/a
33	chr11:5951316-5951366	GM12892	blood:	n/a
34	chr11:5949877-5949927	MCF-7	breast:	n/a
35	chr11:5951316-5951366	Hepatocyte	liver:	n/a
36	chr11:5952089-5952139	PrEC	prostate:	n/a
37	chr11:5951433-5951483	HNPCEpiC	eye:	n/a
38	chr11:5905350-5905400	U87	brain:	n/a
39	chr11:5951360-5951410	BE2_C	brain:	n/a
40	chr11:5951048-5951098	AG10803	skin:	n/a
41	chr11:5951833-5951883	NHDF-neo	bronchial:	n/a
42	chr11:5951360-5951410	MCF-7	breast:	n/a
43	chr11:5951956-5952006	MCF-7	breast:	n/a
44	chr11:5949877-5949927	A549	lung:	n/a
45	chr11:5951833-5951883	ovcar-3	ovarian:	n/a
46	chr11:5950798-5950848	GM06990	blood:	n/a
47	chr11:5950357-5950407	HEEpiC	esophagus:	n/a
48	chr11:5949877-5949927	SAEC	small airway:	n/a
49	chr11:5951360-5951410	NHBE	bronchial:	n/a
50	chr11:5951433-5951483	HL-60	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5950723..5952254-chr7:153108526..153111145,2	K562	blood:
2	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
3	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
4	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
5	chr11:5952222..5953725-chr7:153106291..153108525,3	K562	blood:
6	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
7	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
8	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
9	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
10	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
11	chr11:5950724..5952240-chr7:153107809..153110032,4	K562	blood:

No data

Variant related genes	Relation type
OR52E7P	TF binding region
OR52E4	TF binding region
TRIM5	TF binding region
OR52E8	TF binding region
OR52E7P	CpG island
OR52E4	CpG island
TRIM5	CpG island
OR52E8	CpG island
ENSG00000233563	chromatin interactions
ENSG00000234722	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000183269	chromatin interactions

Extended variants
information (count: 933 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2880549	chr11:5883446-5883447	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527332213	chr11:5883465-5883466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540871102	chr11:5883488-5883489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35192619	chr11:5883524-5883525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567235128	chr11:5883540-5883541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192592437	chr11:5883547-5883548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549849480	chr11:5883553-5883554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569525450	chr11:5883555-5883556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184263620	chr11:5883594-5883595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34041797	chr11:5883616-5883617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535638306	chr11:5883623-5883624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116077171	chr11:5883624-5883625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376772253	chr11:5883625-5883626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534267382	chr11:5883630-5883631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192903957	chr11:5883664-5883665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538634274	chr11:5884597-5884598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7946516	chr11:5884604-5884605	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572329192	chr11:5884613-5884614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542947690	chr11:5884643-5884644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372480135	chr11:5884685-5884686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554778216	chr11:5884716-5884717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113523914	chr11:5884717-5884718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs151313536	chr11:5884736-5884737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564809506	chr11:5884756-5884757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141879595	chr11:5884787-5884788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540658745	chr11:5884818-5884819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182111874	chr11:5884827-5884828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10769287	chr11:5884845-5884846	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557293344	chr11:5884864-5884865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549285745	chr11:5884871-5884872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12416836	chr11:5884970-5884971	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12416838	chr11:5884999-5885000	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12417782	chr11:5885030-5885031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572783489	chr11:5885044-5885045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372223345	chr11:5885047-5885048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571646192	chr11:5885049-5885050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369919829	chr11:5885068-5885069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370991492	chr11:5885080-5885081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539133187	chr11:5885150-5885151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115306315	chr11:5885163-5885164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566103428	chr11:5885168-5885169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147078748	chr11:5885178-5885179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554890749	chr11:5885206-5885207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186755596	chr11:5885209-5885210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12785567	chr11:5885213-5885214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543239403	chr11:5885215-5885216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12416840	chr11:5885221-5885222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558759652	chr11:5885244-5885245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12417143	chr11:5885279-5885280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149710204	chr11:5885300-5885301	Inactive region	Chromatin interactive region	1 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	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:5944000-5944600	Enhancers	A549	lung
10	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
11	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:5944000-5945200	Enhancers	NHEK	skin
13	chr11:5944000-5945400	Enhancers	HMEC	breast
14	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:5950800-5951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:5952000-5953000	ZNF genes & repeats	Pancreas	Pancrea
17	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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