Variant report

Variant	nsv904236
Chromosome Location	chr15:54820897-54912439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:422)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:54909959-54910868	HepG2	liver:	n/a	n/a
2	ATF1	chr15:54833683-54833883	K562	blood:	n/a	n/a
3	ATF2	chr15:54874932-54875387	GM12878	blood:	n/a	n/a
4	ATF2	chr15:54874932-54875503	GM12878	blood:	n/a	n/a
5	BATF	chr15:54875043-54875462	GM12878	blood:	n/a	n/a
6	BATF	chr15:54908894-54909106	GM12878	blood:	n/a	chr15:54909011-54909022
7	BATF	chr15:54868799-54869119	GM12878	blood:	n/a	chr15:54868969-54868980
8	BATF	chr15:54875811-54876146	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:54874932-54875462	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:54875822-54876112	GM12878	blood:	n/a	n/a
11	BCL11A	chr15:54875088-54875445	GM12878	blood:	n/a	n/a
12	BCL11A	chr15:54875821-54876150	GM12878	blood:	n/a	n/a
13	BCLAF1	chr15:54875022-54875350	GM12878	blood:	n/a	n/a
14	BHLHE40	chr15:54868960-54869025	GM12878	blood:	n/a	n/a
15	BHLHE40	chr15:54874807-54876267	GM12878	blood:	n/a	n/a
16	BHLHE40	chr15:54909020-54909028	GM12878	blood:	n/a	n/a
17	BHLHE40	chr15:54876018-54876211	K562	blood:	n/a	n/a
18	BRCA1	chr15:54877809-54877948	GM12878	blood:	n/a	n/a
19	CEBPB	chr15:54912045-54912305	HepG2	liver:	n/a	chr15:54912151-54912162 chr15:54912150-54912163
20	CEBPB	chr15:54910450-54910580	HepG2	liver:	n/a	n/a
21	CEBPB	chr15:54872029-54872154	A549	lung:	n/a	chr15:54872109-54872120 chr15:54872110-54872121 chr15:54872111-54872120
22	CEBPB	chr15:54852375-54852633	HepG2	liver:	n/a	chr15:54852503-54852514 chr15:54852502-54852513 chr15:54852502-54852515 chr15:54852502-54852515
23	CEBPB	chr15:54823798-54823979	A549	lung:	n/a	chr15:54823943-54823954
24	CEBPB	chr15:54841884-54842166	HepG2	liver:	n/a	chr15:54842008-54842019 chr15:54842006-54842017 chr15:54842006-54842019
25	CEBPB	chr15:54910340-54910679	HepG2	liver:	n/a	n/a
26	CEBPB	chr15:54823786-54824113	HepG2	liver:	n/a	chr15:54823943-54823954
27	CEBPB	chr15:54823919-54823990	K562	blood:	n/a	chr15:54823943-54823954
28	CEBPB	chr15:54872032-54872244	HepG2	liver:	n/a	chr15:54872109-54872120 chr15:54872110-54872121 chr15:54872111-54872120
29	CHD1	chr15:54878696-54879050	GM12878	blood:	n/a	n/a
30	CHD1	chr15:54856178-54856199	GM12878	blood:	n/a	n/a
31	CHD1	chr15:54878209-54878291	GM12878	blood:	n/a	n/a
32	CHD1	chr15:54869120-54869146	GM12878	blood:	n/a	n/a
33	CHD1	chr15:54874915-54878001	GM12878	blood:	n/a	n/a
34	CHD2	chr15:54868972-54869105	GM12878	blood:	n/a	n/a
35	CHD2	chr15:54877231-54877562	GM12878	blood:	n/a	n/a
36	CHD2	chr15:54875857-54876277	GM12878	blood:	n/a	n/a
37	CHD2	chr15:54874691-54875624	GM12878	blood:	n/a	n/a
38	CTCF	chr15:54886420-54886570	GM12874	blood:	n/a	n/a
39	CTCF	chr15:54886476-54886587	MCF-7	breast:	n/a	n/a
40	CTCF	chr15:54886420-54886570	GM12873	blood:	n/a	n/a
41	CTCF	chr15:54886589-54886611	GM19240	blood:	n/a	n/a
42	CTCF	chr15:54886440-54886590	NB4	blood:	n/a	n/a
43	CTCF	chr15:54886520-54886531	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr15:54886375-54886648	HepG2	liver:	n/a	n/a
45	CTCF	chr15:54886480-54886630	RPTEC	kidney:	n/a	n/a
46	CTCF	chr15:54886320-54886470	RPTEC	kidney:	n/a	n/a
47	CTCF	chr15:54886435-54886582	A549	lung:	n/a	n/a
48	CTCF	chr15:54886480-54886630	HepG2	liver:	n/a	n/a
49	CTCF	chr15:54886447-54886588	GM19240	blood:	n/a	n/a
50	CTCF	chr15:54886440-54886590	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:54897418-54897468	SK-N-SH	brain:	n/a
2	chr15:54897418-54897468	Hepatocyte	liver:	n/a
3	chr15:54897418-54897468	HMEC	breast:	n/a
4	chr15:54897418-54897468	MCF-7	breast:	n/a
5	chr15:54897418-54897468	Jurkat	blood:	n/a
6	chr15:54897418-54897468	HCM	heart:	n/a
7	chr15:54897418-54897468	PANC-1	pancreas:	n/a
8	chr15:54897418-54897468	HIPEpiC	eye:	n/a
9	chr15:54897418-54897468	HUVEC	blood vessel:	n/a
10	chr15:54897418-54897468	U87	brain:	n/a
11	chr15:54897418-54897468	SAEC	small airway:	n/a
12	chr15:54897418-54897468	AG04449	skin:	fetal
13	chr15:54897418-54897468	GM12892	blood:	n/a
14	chr15:54897418-54897468	HNPCEpiC	eye:	n/a
15	chr15:54897418-54897468	IMR90	lung:	fetal
16	chr15:54897418-54897468	HL-60	blood:	n/a
17	chr15:54897418-54897468	BE2_C	brain:	n/a
18	chr15:54897418-54897468	AG09319	gingival:	n/a
19	chr15:54897418-54897468	GM19239	blood:	n/a
20	chr15:54897418-54897468	HepG2	liver:	n/a
21	chr15:54897418-54897468	AG04450	lung:	fetal
22	chr15:54897418-54897468	PFSK-1	brain:	n/a
23	chr15:54897418-54897468	GM12891	blood:	n/a
24	chr15:54897418-54897468	HPAEpiC	pulmonary alveolar:	n/a
25	chr15:54897418-54897468	HCF	heart:	n/a
26	chr15:54897418-54897468	RPTEC	kidney:	n/a
27	chr15:54897418-54897468	H1-hESC	embryonic stem cell:	embryo
28	chr15:54897418-54897468	GM06990	blood:	n/a
29	chr15:54897418-54897468	K562	blood:	n/a
30	chr15:54897418-54897468	PrEC	prostate:	n/a
31	chr15:54897418-54897468	NT2-D1	testis:	n/a
32	chr15:54897418-54897468	HAEpiC	amniotic membrane:	n/a
33	chr15:54897418-54897468	Hela-S3	cervix:	n/a
34	chr15:54897418-54897468	ProgFib	skin:	n/a
35	chr15:54897418-54897468	NH-A	brain:	n/a
36	chr15:54897418-54897468	GM12878	blood:	n/a
37	chr15:54897418-54897468	HCT-116	colon:	n/a
38	chr15:54897418-54897468	ovcar-3	ovarian:	n/a
39	chr15:54897418-54897468	HEEpiC	esophagus:	n/a
40	chr15:54897418-54897468	HCPEpiC	choroid plexus:	n/a
41	chr15:54897418-54897468	A549	lung:	n/a
42	chr15:54897418-54897468	HEK293	kidney:	embryo
43	chr15:54897418-54897468	T-47D	breast:	n/a
44	chr15:54897418-54897468	AG10803	skin:	n/a
45	chr15:54897418-54897468	CMK	blood:	n/a
46	chr15:54897418-54897468	SKMC	muscle:	n/a
47	chr15:54897418-54897468	Caco-2	colon:	n/a
48	chr15:54897418-54897468	HRPEpiC	eye:	n/a
49	chr15:54897418-54897468	AG09309	skin:	n/a
50	chr15:54897418-54897468	BJ	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:54860759..54863640-chr15:54869706..54871283,2	K562	blood:
2	chr15:54867084..54868948-chr15:54872476..54874542,2	K562	blood:
3	chr15:54860759..54863640-chr15:54869706..54871283,2	K562	blood:
4	chr15:54860759..54864506-chr15:54869181..54871283,4	K562	blood:
5	chr15:54910155..54912492-chr15:54912771..54915484,2	MCF-7	breast:
6	chr15:54812666..54814961-chr15:54822160..54825055,2	MCF-7	breast:
7	chr15:54860759..54864506-chr15:54869181..54871283,4	K562	blood:
8	chr15:54867084..54868948-chr15:54872476..54874542,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSL24D1-4	chr15:54902051-54903329	NONHSAT043976

No data

Variant related genes	Relation type
UNC13C	TF binding region
UNC13C	CpG island

Extended variants
information (count: 3722 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3722 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs605869	chr15:54820897-54820898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557969613	chr15:54820918-54820919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75233796	chr15:54820933-54820934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572422455	chr15:54820966-54820967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541361761	chr15:54820990-54820991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138555685	chr15:54820991-54820992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566601432	chr15:54821095-54821096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186350173	chr15:54821101-54821102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550205507	chr15:54821105-54821106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563631390	chr15:54821192-54821193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112558186	chr15:54821204-54821205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531504276	chr15:54821211-54821212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551300481	chr15:54821289-54821290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190865213	chr15:54821353-54821354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72738435	chr15:54821384-54821385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547760422	chr15:54821402-54821403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567261440	chr15:54821414-54821415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536264132	chr15:54821434-54821435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556177452	chr15:54821445-54821446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576079915	chr15:54821480-54821481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149274312	chr15:54821495-54821496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143474880	chr15:54821581-54821582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137894295	chr15:54821634-54821635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573584630	chr15:54821649-54821650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182627447	chr15:54821660-54821661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561289152	chr15:54821675-54821676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574443480	chr15:54821731-54821732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142313836	chr15:54821751-54821752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114309054	chr15:54821895-54821896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532482754	chr15:54821899-54821900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546305916	chr15:54821926-54821927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565068575	chr15:54822057-54822058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144275701	chr15:54822068-54822069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527522329	chr15:54822134-54822135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541915024	chr15:54822166-54822167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543833862	chr15:54822203-54822204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547673512	chr15:54822238-54822239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77140214	chr15:54822254-54822255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78541676	chr15:54822314-54822315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112949448	chr15:54822319-54822320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542510704	chr15:54822411-54822412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117024629	chr15:54822460-54822461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569668049	chr15:54822464-54822465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74016652	chr15:54822512-54822513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146402881	chr15:54822537-54822538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139746772	chr15:54822540-54822541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534890030	chr15:54822583-54822584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554811546	chr15:54822585-54822586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375652133	chr15:54822599-54822600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143005969	chr15:54822650-54822651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21215367	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54811000-54869600	Weak transcription	Aorta	Aorta
2	chr15:54818400-54825600	Weak transcription	Fetal Lung	lung
3	chr15:54825600-54828400	Strong transcription	Fetal Lung	lung
4	chr15:54828400-54829400	Weak transcription	Fetal Lung	lung
5	chr15:54829400-54830000	ZNF genes & repeats	Fetal Lung	lung
6	chr15:54839200-54839800	Enhancers	Fetal Lung	lung
7	chr15:54839800-54858800	Weak transcription	Fetal Lung	lung
8	chr15:54841200-54841600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr15:54851400-54852000	Enhancers	Adipose Nuclei	Adipose
10	chr15:54851400-54852200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:54851600-54852000	Enhancers	Primary hematopoietic stem cells	blood
12	chr15:54851600-54852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:54851600-54852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:54852000-54855600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:54852400-54855600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:54852600-54856000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:54855600-54856000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:54855600-54857400	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:54856000-54856400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:54856000-54856800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr15:54856000-54857200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:54856400-54857200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:54857200-54858200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:54857200-54859000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:54857400-54863800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:54858200-54860200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:54858800-54860200	Enhancers	Fetal Lung	lung
28	chr15:54859000-54860200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:54859400-54859600	Enhancers	Fetal Muscle Leg	muscle
30	chr15:54860200-54863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:54860200-54863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:54863800-54864200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:54863800-54864400	Enhancers	Primary hematopoietic stem cells	blood
34	chr15:54863800-54864400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr15:54863800-54864400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:54867600-54871200	Enhancers	Fetal Lung	lung
37	chr15:54868200-54868600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr15:54868600-54869600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr15:54868800-54870000	Enhancers	Adipose Nuclei	Adipose
40	chr15:54869600-54870000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr15:54869600-54870000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr15:54869600-54870000	Enhancers	Aorta	Aorta
43	chr15:54869600-54870000	Enhancers	Fetal Muscle Trunk	muscle
44	chr15:54869600-54870000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:54869600-54870200	Enhancers	Fetal Muscle Leg	muscle
46	chr15:54870000-54870800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr15:54870000-54879800	Weak transcription	Aorta	Aorta
48	chr15:54870200-54870600	Weak transcription	Fetal Muscle Leg	muscle
49	chr15:54870600-54871200	Enhancers	Fetal Muscle Leg	muscle
50	chr15:54870800-54871200	Enhancers	Placenta Amnion	Placenta Amnion

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