Variant report

Variant	nsv904181
Chromosome Location	chr15:45127793-45216343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45205265-45205621	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:45145528-45145856	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:45181194-45181211	K562	blood:	n/a	n/a
4	ARID3A	chr15:45128282-45128791	HepG2	liver:	n/a	n/a
5	ATF1	chr15:45182020-45182040	K562	blood:	n/a	n/a
6	ATF1	chr15:45168202-45168273	K562	blood:	n/a	n/a
7	ATF1	chr15:45145566-45145860	K562	blood:	n/a	n/a
8	ATF2	chr15:45203414-45203775	GM12878	blood:	n/a	n/a
9	ATF2	chr15:45174555-45175594	GM12878	blood:	n/a	n/a
10	ATF2	chr15:45174666-45175297	GM12878	blood:	n/a	n/a
11	ATF2	chr15:45203385-45203780	GM12878	blood:	n/a	n/a
12	BACH1	chr15:45146115-45146175	K562	blood:	n/a	n/a
13	BATF	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
14	BATF	chr15:45204924-45205158	GM12878	blood:	n/a	chr15:45204943-45204952
15	BATF	chr15:45214951-45215126	GM12878	blood:	n/a	n/a
16	BATF	chr15:45174500-45176189	GM12878	blood:	n/a	n/a
17	BATF	chr15:45203489-45203757	GM12878	blood:	n/a	chr15:45203595-45203606 chr15:45203708-45203717
18	BATF	chr15:45175615-45176106	GM12878	blood:	n/a	n/a
19	BATF	chr15:45145545-45145867	GM12878	blood:	n/a	n/a
20	BATF	chr15:45203408-45203799	GM12878	blood:	n/a	chr15:45203595-45203606 chr15:45203708-45203717
21	BATF	chr15:45191999-45192251	GM12878	blood:	n/a	n/a
22	BATF	chr15:45191947-45192347	GM12878	blood:	n/a	n/a
23	BATF	chr15:45174732-45175340	GM12878	blood:	n/a	n/a
24	BATF	chr15:45131166-45131498	GM12878	blood:	n/a	n/a
25	BCL11A	chr15:45175527-45176004	GM12878	blood:	n/a	n/a
26	BCL11A	chr15:45191932-45192270	GM12878	blood:	n/a	n/a
27	BCL11A	chr15:45131165-45131444	GM12878	blood:	n/a	chr15:45131356-45131365
28	BCL11A	chr15:45175417-45176211	GM12878	blood:	n/a	n/a
29	BCL11A	chr15:45203459-45203776	GM12878	blood:	n/a	chr15:45203595-45203604 chr15:45203594-45203603
30	BCL11A	chr15:45174637-45175348	GM12878	blood:	n/a	n/a
31	BCL11A	chr15:45174655-45175245	GM12878	blood:	n/a	n/a
32	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
33	BCL3	chr15:45174662-45175296	GM12878	blood:	n/a	n/a
34	BCLAF1	chr15:45174315-45175214	GM12878	blood:	n/a	n/a
35	BCLAF1	chr15:45174481-45175331	GM12878	blood:	n/a	n/a
36	BCLAF1	chr15:45145496-45145860	GM12878	blood:	n/a	n/a
37	BCLAF1	chr15:45173453-45173866	GM12878	blood:	n/a	n/a
38	BHLHE40	chr15:45175681-45176068	GM12878	blood:	n/a	n/a
39	BHLHE40	chr15:45145489-45145849	HepG2	liver:	n/a	n/a
40	BHLHE40	chr15:45174566-45175326	GM12878	blood:	n/a	n/a
41	BHLHE40	chr15:45128329-45128658	HepG2	liver:	n/a	chr15:45128479-45128495
42	BHLHE40	chr15:45145583-45145886	GM12878	blood:	n/a	n/a
43	BHLHE40	chr15:45145577-45145857	K562	blood:	n/a	n/a
44	BHLHE40	chr15:45205254-45205588	HepG2	liver:	n/a	n/a
45	BRCA1	chr15:45197020-45197149	Hela-S3	cervix:	n/a	n/a
46	CBX3	chr15:45170134-45170405	K562	blood:	n/a	n/a
47	CBX3	chr15:45170132-45170460	K562	blood:	n/a	n/a
48	CBX3	chr15:45154120-45154506	K562	blood:	n/a	n/a
49	CBX3	chr15:45145434-45145947	K562	blood:	n/a	n/a
50	CBX3	chr15:45153846-45154522	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45145307..45146142-chr15:45409718..45410518,2	K562	blood:
2	chr15:45153661..45154310-chr15:45315073..45315837,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf43-1	chr15:45211574-45211851	NONHSAT042202
2	lnc-C15orf43-2	chr15:45174295-45174981	NONHSAT042199
3	lnc-C15orf43-1	chr15:45212156-45213018	NONHSAT042202

Variant related genes	Relation type
ENSG00000259479	TF binding region
ENSG00000238845	TF binding region
RNU1-119P	TF binding region
ENSG00000259231	TF binding region
ENSG00000140263	chromatin interactions

Extended variants
information (count: 2419 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2419 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8042485	chr15:45127793-45127794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140476121	chr15:45127821-45127822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372759109	chr15:45127824-45127825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145454050	chr15:45127831-45127832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531902919	chr15:45127869-45127870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540972486	chr15:45127889-45127890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564088120	chr15:45127904-45127905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533049236	chr15:45127915-45127916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549401782	chr15:45127972-45127973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567486169	chr15:45127975-45127976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72422525	chr15:45127976-45127977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564592582	chr15:45127994-45127995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528979854	chr15:45128005-45128006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538019439	chr15:45128014-45128015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28469015	chr15:45128042-45128043	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145882023	chr15:45128061-45128062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547669054	chr15:45128082-45128083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149010395	chr15:45128083-45128084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187872828	chr15:45128095-45128096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143801805	chr15:45128126-45128127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369279643	chr15:45128127-45128128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576477795	chr15:45128141-45128142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111227851	chr15:45128172-45128173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192635801	chr15:45128184-45128185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57143310	chr15:45128190-45128191	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541262825	chr15:45128221-45128222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184944066	chr15:45128224-45128225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144713044	chr15:45128225-45128226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565757681	chr15:45128228-45128229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2468053	chr15:45128234-45128235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528838304	chr15:45128273-45128274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548806153	chr15:45128275-45128276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548405862	chr15:45128293-45128294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559444639	chr15:45128365-45128366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372613444	chr15:45128399-45128400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150714782	chr15:45128405-45128406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569841375	chr15:45128415-45128416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11634934	chr15:45128417-45128418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571034781	chr15:45128465-45128466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540158595	chr15:45128466-45128467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550456789	chr15:45128492-45128493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193174945	chr15:45128493-45128494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74487552	chr15:45128502-45128503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76739818	chr15:45128504-45128505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572538678	chr15:45128522-45128523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534787764	chr15:45128553-45128554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184607821	chr15:45128562-45128563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370208708	chr15:45128591-45128592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373135615	chr15:45128597-45128598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577385538	chr15:45128622-45128623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45120400-45128400	Weak transcription	Spleen	Spleen
2	chr15:45120800-45129400	Enhancers	HepG2	liver
3	chr15:45120800-45131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:45123800-45131000	Weak transcription	NHEK	skin
5	chr15:45124600-45130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:45125800-45128400	Weak transcription	Liver	Liver
7	chr15:45126400-45131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:45126400-45131400	Weak transcription	HMEC	breast
9	chr15:45128400-45128600	Enhancers	Spleen	Spleen
10	chr15:45128400-45129000	Enhancers	Liver	Liver
11	chr15:45129400-45133600	Weak transcription	HepG2	liver
12	chr15:45130400-45130800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:45130800-45132200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:45130800-45132400	Enhancers	HUVEC	blood vessel
15	chr15:45131000-45131400	Enhancers	HSMMtube	muscle
16	chr15:45131000-45131600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:45131000-45131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:45131000-45131600	Enhancers	GM12878-XiMat	blood
19	chr15:45131000-45131800	Enhancers	NHEK	skin
20	chr15:45131000-45132000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:45131000-45132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:45131000-45132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:45131400-45131600	Bivalent Enhancer	HSMMtube	muscle
24	chr15:45131400-45131800	Enhancers	Primary hematopoietic stem cells	blood
25	chr15:45131400-45131800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:45131400-45131800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr15:45131400-45131800	Enhancers	NH-A	brain
28	chr15:45131400-45132200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:45131400-45132200	Enhancers	HMEC	breast
30	chr15:45131600-45133800	Weak transcription	GM12878-XiMat	blood
31	chr15:45131800-45132200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:45132000-45134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:45132200-45135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:45133600-45134400	Enhancers	HepG2	liver
35	chr15:45134000-45134200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:45134000-45134600	Enhancers	Gastric	stomach
37	chr15:45134400-45141000	Weak transcription	HepG2	liver
38	chr15:45135000-45135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:45137400-45138200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr15:45137600-45137800	Enhancers	Pancreas	Pancrea
41	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
42	chr15:45138000-45138200	Enhancers	Duodenum Mucosa	Duodenum
43	chr15:45141000-45142000	Enhancers	Liver	Liver
44	chr15:45141000-45142200	Enhancers	HepG2	liver
45	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
46	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:45141800-45142200	Enhancers	Lung	lung
48	chr15:45142000-45144400	Weak transcription	Liver	Liver
49	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:45142200-45143800	Weak transcription	HepG2	liver

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