Variant report

Variant	nsv904211
Chromosome Location	chr15:50874964-50910440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:50885990-50886949	K562	blood:	n/a	n/a
2	ARID3A	chr15:50888476-50888556	K562	blood:	n/a	n/a
3	ATF1	chr15:50886574-50886849	K562	blood:	n/a	n/a
4	CCNT2	chr15:50886474-50886898	K562	blood:	n/a	n/a
5	CEBPB	chr15:50905849-50906159	IMR90	lung:	n/a	n/a
6	CEBPB	chr15:50880400-50880451	A549	lung:	n/a	n/a
7	CEBPB	chr15:50879756-50879976	A549	lung:	n/a	chr15:50879905-50879916
8	CEBPB	chr15:50886533-50886784	K562	blood:	n/a	n/a
9	CEBPB	chr15:50905827-50906151	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr15:50881475-50881754	K562	blood:	n/a	chr15:50881581-50881594 chr15:50881581-50881594
11	CEBPB	chr15:50894829-50895045	A549	lung:	n/a	n/a
12	CEBPB	chr15:50905892-50906190	MCF-7	breast:	n/a	n/a
13	CEBPB	chr15:50905809-50906222	A549	lung:	n/a	n/a
14	CEBPB	chr15:50881597-50881743	IMR90	lung:	n/a	n/a
15	CEBPB	chr15:50894818-50895097	HepG2	liver:	n/a	n/a
16	CEBPB	chr15:50905848-50906147	A549	lung:	n/a	n/a
17	CEBPB	chr15:50905830-50906159	K562	blood:	n/a	n/a
18	CEBPB	chr15:50905825-50906178	HepG2	liver:	n/a	n/a
19	CEBPB	chr15:50889065-50889265	IMR90	lung:	n/a	n/a
20	CEBPB	chr15:50905894-50906111	A549	lung:	n/a	n/a
21	CEBPB	chr15:50881732-50881885	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr15:50879839-50880023	HepG2	liver:	n/a	chr15:50879905-50879916
23	CEBPB	chr15:50905719-50906245	MCF-7	breast:	n/a	n/a
24	CEBPB	chr15:50889075-50889077	K562	blood:	n/a	n/a
25	CEBPB	chr15:50880374-50880513	K562	blood:	n/a	chr15:50880463-50880474
26	CEBPD	chr15:50886481-50887012	K562	blood:	n/a	n/a
27	CEBPD	chr15:50886419-50886927	K562	blood:	n/a	n/a
28	CTCF	chr15:50907990-50907992	GM10248	blood:	n/a	n/a
29	CTCF	chr15:50886367-50886634	K562	blood:	n/a	n/a
30	CUX1	chr15:50886082-50886893	K562	blood:	n/a	n/a
31	EP300	chr15:50886594-50886920	K562	blood:	n/a	n/a
32	EP300	chr15:50908375-50908399	GM12878	blood:	n/a	n/a
33	EP300	chr15:50885694-50886922	K562	blood:	n/a	chr15:50886576-50886590 chr15:50886105-50886119 chr15:50886401-50886415 chr15:50886171-50886180 chr15:50886152-50886161
34	FAM48A	chr15:50889459-50889709	Hela-S3	cervix:	n/a	n/a
35	FOS	chr15:50889093-50889293	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr15:50889204-50889279	MCF10A-Er-Src	breast:	n/a	n/a
37	GABPA	chr15:50886560-50886826	K562	blood:	n/a	n/a
38	GATA1	chr15:50885889-50887348	PBDE	blood:	n/a	n/a
39	GATA1	chr15:50886445-50886849	PBDEFetal	blood:	n/a	n/a
40	GATA1	chr15:50885751-50887419	K562	blood:	n/a	n/a
41	GATA2	chr15:50886465-50886845	K562	blood:	n/a	n/a
42	GATA2	chr15:50886486-50886801	K562	blood:	n/a	n/a
43	GATA3	chr15:50900502-50901256	MCF-7	breast:	n/a	n/a
44	GATA3	chr15:50890934-50891109	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr15:50882587-50882843	T-47D	breast:	n/a	n/a
46	GATA3	chr15:50882540-50882795	MCF-7	breast:	n/a	n/a
47	GATA3	chr15:50902396-50902466	MCF-7	breast:	n/a	n/a
48	HMGN3	chr15:50886582-50886805	K562	blood:	n/a	n/a
49	IRF1	chr15:50886003-50886256	K562	blood:	n/a	chr15:50886104-50886118 chr15:50886167-50886184 chr15:50886163-50886183
50	IRF1	chr15:50886551-50886953	K562	blood:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50871076..50873819-chr15:50876627..50878202,2	MCF-7	breast:
2	chr15:50889745..50892079-chr19:13048030..13049882,2	MCF-7	breast:
3	chr15:50646177..50648161-chr15:50884558..50887057,2	K562	blood:
4	chr15:50644948..50647496-chr15:50903184..50905724,2	MCF-7	breast:
5	chr15:50864188..50868322-chr15:50872346..50875460,4	MCF-7	breast:
6	chr15:50872498..50875116-chr15:50878753..50881368,3	K562	blood:
7	chr15:50891850..50893589-chr15:50903220..50904870,2	MCF-7	breast:
8	chr15:50872361..50874007-chr15:50875166..50877011,2	K562	blood:
9	chr15:50897808..50900573-chr15:50902086..50904020,3	K562	blood:
10	chr15:50890587..50894134-chr15:50900500..50903052,3	MCF-7	breast:
11	chr15:50878762..50881023-chr15:50884773..50886938,2	K562	blood:
12	chr15:50872361..50874197-chr15:50874784..50877011,2	K562	blood:
13	chr15:50646568..50648510-chr15:50882199..50884053,2	MCF-7	breast:
14	chr15:50872498..50875116-chr15:50878753..50881368,3	K562	blood:
15	chr15:50859308..50861522-chr15:50879370..50881097,2	K562	blood:
16	chr15:50900703..50903174-chr15:51177027..51179659,2	K562	blood:
17	chr15:50551676..50553333-chr15:50885793..50888407,2	K562	blood:
18	chr15:50865776..50869008-chr15:50882396..50886787,3	K562	blood:
19	chr15:50885914..50887497-chr15:50920391..50922756,2	K562	blood:
20	chr15:50885676..50889608-chr15:50891608..50893462,3	K562	blood:
21	chr15:50909782..50912270-chr15:50977423..50980353,2	MCF-7	breast:
22	chr15:50889435..50893254-chr15:50893944..50897716,3	K562	blood:
23	chr15:50881070..50883291-chr15:50976406..50979005,2	MCF-7	breast:
24	chr15:50894679..50897378-chr15:50902879..50904659,2	MCF-7	breast:
25	chr15:50894679..50897378-chr15:50902879..50904659,2	MCF-7	breast:
26	chr15:50882354..50884324-chr15:50884736..50886650,2	MCF-7	breast:
27	chr15:50646177..50649955-chr15:50884558..50888661,4	K562	blood:
28	chr15:50646616..50649528-chr15:50876208..50878144,2	MCF-7	breast:
29	chr15:50897808..50900573-chr15:50902086..50904020,3	K562	blood:
30	chr15:50645917..50650602-chr15:50893213..50896172,4	MCF-7	breast:
31	chr15:50882354..50884324-chr15:50884736..50886650,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP50-5	chr15:50883698-50883786	l_1156_chr15:50879698-50884434_liver
2	lnc-USP50-5	chr15:50882478-50883336	l_1156_chr15:50879698-50884434_liver
3	lnc-USP50-5	chr15:50883983-50884434	l_1156_chr15:50879698-50884434_liver
4	lnc-USP50-5	chr15:50879699-50880406	l_1156_chr15:50879698-50884434_liver

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TRPM7	hsa-miR-10a-5p	chr15:50896593-50896615
2	TRPM7	hsa-miR-10a-5p	chr15:50896505-50896530

Variant related genes	Relation type
TRPM7	TF binding region
ENSG00000179218	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000092439	chromatin interactions
ENSG00000244879	chromatin interactions

Extended variants
information (count: 1488 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1488 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3109891	chr15:50874964-50874965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567821219	chr15:50874977-50874978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184476152	chr15:50874981-50874982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77153164	chr15:50874990-50874991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140046872	chr15:50875020-50875021	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189237192	chr15:50875077-50875078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570218029	chr15:50875177-50875178	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537770012	chr15:50875224-50875225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370190327	chr15:50875287-50875288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145567702	chr15:50875322-50875323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570693505	chr15:50875329-50875330	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376180656	chr15:50875333-50875334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148771191	chr15:50875341-50875342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552606225	chr15:50875378-50875379	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368490998	chr15:50875394-50875395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577342400	chr15:50875411-50875412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574205671	chr15:50875473-50875474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28650144	chr15:50875561-50875562	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556940174	chr15:50875614-50875615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62017166	chr15:50875621-50875622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575160726	chr15:50875693-50875694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151051112	chr15:50875749-50875750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539720713	chr15:50875772-50875773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200942060	chr15:50875777-50875778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201352041	chr15:50875779-50875780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199806941	chr15:50875780-50875781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56278507	chr15:50875781-50875782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201347783	chr15:50875782-50875783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398027232	chr15:50875790-50875791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201813583	chr15:50875791-50875792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181916499	chr15:50875824-50875825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113535902	chr15:50875889-50875890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540430319	chr15:50875932-50875933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561294516	chr15:50875943-50875944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140989831	chr15:50875976-50875977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530226105	chr15:50875982-50875983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541828111	chr15:50876056-50876057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377275883	chr15:50876063-50876064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116399009	chr15:50876077-50876078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531598493	chr15:50876083-50876084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552450464	chr15:50876086-50876087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149809985	chr15:50876091-50876092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187203869	chr15:50876095-50876096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192013023	chr15:50876139-50876140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546808584	chr15:50876192-50876193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377374470	chr15:50876222-50876223	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs140540926	chr15:50876277-50876278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs180768778	chr15:50876285-50876286	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs145531510	chr15:50876286-50876287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs568826269	chr15:50876296-50876297	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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
Breast cancer	21785460	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50837000-50882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:50847000-50920600	Weak transcription	Aorta	Aorta
4	chr15:50848800-50894800	Strong transcription	Liver	Liver
5	chr15:50849000-50894600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:50849200-50883600	Weak transcription	Pancreas	Pancrea
7	chr15:50849200-50883600	Weak transcription	Small Intestine	intestine
8	chr15:50850800-50892000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:50851800-50936400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:50852000-50897400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:50852200-50890200	Weak transcription	Psoas Muscle	Psoas
12	chr15:50852200-50896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:50852800-50879000	Strong transcription	Adipose Nuclei	Adipose
14	chr15:50852800-50887200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr15:50852800-50888600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:50852800-50893200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:50855200-50879200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:50855600-50890200	Weak transcription	Fetal Brain Male	brain
20	chr15:50855600-50907200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:50855600-50919600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:50856400-50892600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:50857200-50875600	Strong transcription	NHDF-Ad	bronchial
24	chr15:50857400-50875000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:50857400-50922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:50859400-50892000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:50859600-50888000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:50859600-50916600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr15:50860400-50875600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:50860600-50888000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:50860800-50891800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr15:50861000-50893600	Strong transcription	Placenta	Placenta
33	chr15:50861400-50878800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr15:50861400-50879000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:50861600-50892200	Strong transcription	Dnd41	blood
36	chr15:50862800-50891000	Strong transcription	A549	lung
37	chr15:50863800-50875000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr15:50864000-50907400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:50864200-50893800	Strong transcription	Osteobl	bone
40	chr15:50865800-50884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:50865800-50890000	Weak transcription	Brain Substantia Nigra	brain
42	chr15:50867400-50894800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:50867400-50908200	Weak transcription	Stomach Mucosa	stomach
44	chr15:50867600-50880000	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:50867600-50880800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr15:50868200-50877600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr15:50868600-50876200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:50868800-50875000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:50869200-50892400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:50869400-50882600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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