Variant report

Variant	nsv1039690
Chromosome Location	chr11:59124719-59178832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:161)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:161 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:59147689-59148680	GM12878	blood:	n/a	n/a
2	ATF2	chr11:59147656-59148686	GM12878	blood:	n/a	n/a
3	BACH1	chr11:59125808-59125885	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr11:59147987-59148480	GM12878	blood:	n/a	n/a
5	BATF	chr11:59148012-59148596	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:59148034-59148305	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:59147923-59148577	GM12878	blood:	n/a	n/a
8	BCL3	chr11:59148052-59148518	GM12878	blood:	n/a	n/a
9	BCLAF1	chr11:59147928-59148414	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:59147866-59148621	GM12878	blood:	n/a	n/a
11	CBX3	chr11:59171004-59171456	HCT-116	colon:	n/a	n/a
12	CEBPB	chr11:59124630-59124719	A549	lung:	n/a	n/a
13	CEBPB	chr11:59137945-59138122	A549	lung:	n/a	n/a
14	CREB1	chr11:59147885-59148671	GM12878	blood:	n/a	n/a
15	CTCF	chr11:59168740-59168890	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:59168700-59168850	HMF	breast:	n/a	n/a
17	CTCF	chr11:59168720-59168870	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr11:59168765-59168861	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr11:59140200-59140350	GM12866	blood:	n/a	n/a
20	CTCF	chr11:59137508-59137546	Medullo	brain:	n/a	n/a
21	CTCF	chr11:59168800-59168950	NHEK	skin:	n/a	n/a
22	CTCF	chr11:59168780-59168930	HMEC	breast:	n/a	n/a
23	CTCF	chr11:59168720-59168870	RPTEC	kidney:	n/a	n/a
24	CTCF	chr11:59168880-59169030	GM12866	blood:	n/a	n/a
25	CTCF	chr11:59168815-59168845	ProgFib	skin:	n/a	n/a
26	CTCF	chr11:59168840-59168990	HCT-116	colon:	n/a	n/a
27	CTCF	chr11:59139900-59140050	GM12865	blood:	n/a	n/a
28	CTCF	chr11:59169000-59169150	NHEK	skin:	n/a	n/a
29	CTCF	chr11:59139880-59140030	GM06990	blood:	n/a	n/a
30	CTCF	chr11:59168740-59168890	GM12872	blood:	n/a	n/a
31	CTCF	chr11:59139980-59140130	GM12868	blood:	n/a	n/a
32	CTCF	chr11:59168740-59168890	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:59168680-59168830	GM06990	blood:	n/a	n/a
34	CTCF	chr11:59168740-59168890	HCFaa	heart:	n/a	n/a
35	CTCF	chr11:59139960-59140110	GM12873	blood:	n/a	n/a
36	CTCF	chr11:59168755-59168856	LNCaP	prostate:	n/a	n/a
37	CTCF	chr11:59168740-59168890	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr11:59168660-59168810	GM12865	blood:	n/a	n/a
39	CTCF	chr11:59168760-59168910	HepG2	liver:	n/a	n/a
40	CTCF	chr11:59139900-59140050	GM12873	blood:	n/a	n/a
41	CTCF	chr11:59168747-59168791	K562	blood:	n/a	n/a
42	CTCF	chr11:59168780-59168930	HCT-116	colon:	n/a	n/a
43	CTCF	chr11:59168680-59168830	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr11:59168660-59168810	GM12872	blood:	n/a	n/a
45	CTCF	chr11:59153880-59154030	GM12873	blood:	n/a	n/a
46	CTCF	chr11:59168720-59168870	GM12871	blood:	n/a	n/a
47	CTCF	chr11:59139880-59140030	GM12873	blood:	n/a	n/a
48	CTCF	chr11:59168720-59168870	K562	blood:	n/a	n/a
49	CTCF	chr11:59168767-59168851	GM12878	blood:	n/a	n/a
50	CTCF	chr11:59168740-59168890	HMEC	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59132298-59132348	SK-N-MC	brain:	n/a
2	chr11:59131003-59131053	HL-60	blood:	n/a
3	chr11:59132298-59132348	GM06990	blood:	n/a
4	chr11:59132298-59132348	IMR90	lung:	fetal
5	chr11:59132298-59132348	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:59132298-59132348	HCM	heart:	n/a
7	chr11:59131003-59131053	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:59132298-59132348	AoSMC	blood vessel:	n/a
9	chr11:59131003-59131053	GM12878	blood:	n/a
10	chr11:59132298-59132348	HAEpiC	amniotic membrane:	n/a
11	chr11:59131003-59131053	Hepatocyte	liver:	n/a
12	chr11:59132298-59132348	HCT-116	colon:	n/a
13	chr11:59132298-59132348	GM12891	blood:	n/a
14	chr11:59132298-59132348	Caco-2	colon:	n/a
15	chr11:59132298-59132348	HIPEpiC	eye:	n/a
16	chr11:59131003-59131053	NHBE	bronchial:	n/a
17	chr11:59131003-59131053	HCT-116	colon:	n/a
18	chr11:59132298-59132348	NB4	blood:	n/a
19	chr11:59132298-59132348	PrEC	prostate:	n/a
20	chr11:59132298-59132348	AG04449	skin:	fetal
21	chr11:59131003-59131053	SK-N-SH	brain:	n/a
22	chr11:59131003-59131053	AG04450	lung:	fetal
23	chr11:59132298-59132348	HUVEC	blood vessel:	n/a
24	chr11:59131003-59131053	MCF-7	breast:	n/a
25	chr11:59131003-59131053	SKMC	muscle:	n/a
26	chr11:59131003-59131053	NT2-D1	testis:	n/a
27	chr11:59131003-59131053	RPTEC	kidney:	n/a
28	chr11:59132298-59132348	ECC-1	luminal epithelium:	n/a
29	chr11:59132298-59132348	HMEC	breast:	n/a
30	chr11:59132298-59132348	RPTEC	kidney:	n/a
31	chr11:59132298-59132348	AG10803	skin:	n/a
32	chr11:59131003-59131053	HCPEpiC	choroid plexus:	n/a
33	chr11:59132298-59132348	K562	blood:	n/a
34	chr11:59132298-59132348	HRPEpiC	eye:	n/a
35	chr11:59131003-59131053	ovcar-3	ovarian:	n/a
36	chr11:59132298-59132348	PFSK-1	brain:	n/a
37	chr11:59131003-59131053	CMK	blood:	n/a
38	chr11:59132298-59132348	Jurkat	blood:	n/a
39	chr11:59132298-59132348	SAEC	small airway:	n/a
40	chr11:59132298-59132348	Hepatocyte	liver:	n/a
41	chr11:59131003-59131053	HUVEC	blood vessel:	n/a
42	chr11:59131003-59131053	SK-N-SH_RA	brain:	n/a
43	chr11:59131003-59131053	U87	brain:	n/a
44	chr11:59132298-59132348	HL-60	blood:	n/a
45	chr11:59132298-59132348	NHBE	bronchial:	n/a
46	chr11:59132298-59132348	U87	brain:	n/a
47	chr11:59131003-59131053	HepG2	liver:	n/a
48	chr11:59132298-59132348	HepG2	liver:	n/a
49	chr11:59131003-59131053	HRPEpiC	eye:	n/a
50	chr11:59131003-59131053	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59123282..59125322-chr11:59129227..59131831,2	K562	blood:
2	chr11:59123282..59125322-chr11:59129227..59131831,2	K562	blood:

No data

Variant related genes	Relation type
OR5AN1	TF binding region
OR5BB1P	TF binding region
OR5AN1	CpG island
OR5BB1P	CpG island

Extended variants
information (count: 489 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544083380	chr11:59127973-59127974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556296759	chr11:59127983-59127984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs577876809	chr11:59127984-59127985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs544888049	chr11:59128029-59128030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186421632	chr11:59128035-59128036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs34730029	chr11:59128042-59128043	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs118139676	chr11:59128073-59128074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560652735	chr11:59128076-59128077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190537605	chr11:59128095-59128096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372673110	chr11:59128097-59128098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs377195599	chr11:59128126-59128127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76221427	chr11:59128458-59128459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372290242	chr11:59128459-59128460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs150179835	chr11:59128470-59128471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs80306590	chr11:59128471-59128472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs12418613	chr11:59128478-59128479	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185978588	chr11:59128482-59128483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs138655688	chr11:59128485-59128486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs140360581	chr11:59128486-59128487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs7121582	chr11:59128518-59128519	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs374885245	chr11:59131016-59131017	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs368982285	chr11:59131026-59131027	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs550393958	chr11:59131262-59131263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs145456563	chr11:59131350-59131351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs138278868	chr11:59131357-59131358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558697096	chr11:59131363-59131364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577134089	chr11:59131367-59131368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373922801	chr11:59131392-59131393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs139420612	chr11:59135020-59135021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77232851	chr11:59135051-59135052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554230594	chr11:59135067-59135068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144171529	chr11:59135084-59135085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573574315	chr11:59135112-59135113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543521847	chr11:59135124-59135125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556842572	chr11:59135134-59135135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578209900	chr11:59135154-59135155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1608210	chr11:59135172-59135173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560843115	chr11:59135175-59135176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527951717	chr11:59135179-59135180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543024103	chr11:59135189-59135190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561113995	chr11:59135228-59135229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531722368	chr11:59135237-59135238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549861971	chr11:59135241-59135242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560992829	chr11:59135288-59135289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180807840	chr11:59135304-59135305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375759960	chr11:59135306-59135307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532176824	chr11:59135313-59135314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547244401	chr11:59135399-59135400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565978358	chr11:59135405-59135406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146479791	chr11:59135425-59135426	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59135000-59137200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:59135200-59135800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:59135200-59137400	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:59135400-59136400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:59135400-59136600	Enhancers	Fetal Thymus	thymus
6	chr11:59135400-59137000	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:59135400-59137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:59135400-59137200	Enhancers	Primary B cells from cord blood	blood
9	chr11:59135600-59136000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:59135600-59136400	Enhancers	Thymus	Thymus
11	chr11:59135600-59136400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr11:59135800-59136800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:59136800-59137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:59139200-59140400	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:59144800-59145600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr11:59145000-59145400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:59147000-59147600	Enhancers	Primary B cells from peripheral blood	blood
18	chr11:59147200-59147800	Enhancers	Primary B cells from cord blood	blood
19	chr11:59147200-59147800	Enhancers	GM12878-XiMat	blood
20	chr11:59147200-59147800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr11:59147800-59148000	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:59147800-59148200	Active TSS	Primary B cells from cord blood	blood
23	chr11:59147800-59148600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr11:59148000-59148400	Active TSS	GM12878-XiMat	blood
25	chr11:59148200-59148800	Enhancers	Primary B cells from cord blood	blood
26	chr11:59148400-59148800	Flanking Active TSS	GM12878-XiMat	blood
27	chr11:59148800-59149000	Enhancers	GM12878-XiMat	blood
28	chr11:59162000-59162200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:59162200-59162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:59162800-59163600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:59167800-59168200	Enhancers	Liver	Liver
32	chr11:59168200-59168600	Flanking Active TSS	Liver	Liver
33	chr11:59168600-59169600	Enhancers	Liver	Liver

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