Variant report

Variant	nsv569648
Chromosome Location	chr15:62239697-62340126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 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	chr15:62281922-62282216	K562	blood:	n/a	n/a
2	BACH1	chr15:62281967-62282167	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr15:62281910-62282262	K562	blood:	n/a	n/a
4	BCL3	chr15:62255882-62256211	GM12878	blood:	n/a	n/a
5	BCLAF1	chr15:62319158-62319771	GM12878	blood:	n/a	chr15:62319715-62319724 chr15:62319302-62319311
6	BHLHE40	chr15:62338355-62338604	GM12878	blood:	n/a	n/a
7	CEBPB	chr15:62275251-62275629	MCF-7	breast:	n/a	chr15:62275465-62275476
8	CEBPB	chr15:62301289-62301563	A549	lung:	n/a	chr15:62301426-62301437 chr15:62301424-62301437 chr15:62301424-62301435
9	CEBPB	chr15:62301279-62301591	HepG2	liver:	n/a	chr15:62301426-62301437 chr15:62301424-62301437 chr15:62301424-62301435
10	CEBPB	chr15:62281886-62282169	K562	blood:	n/a	n/a
11	CEBPB	chr15:62265786-62266041	A549	lung:	n/a	chr15:62265887-62265898 chr15:62265886-62265897 chr15:62265888-62265897
12	CEBPB	chr15:62265849-62266044	K562	blood:	n/a	chr15:62265887-62265898 chr15:62265886-62265897 chr15:62265888-62265897
13	CEBPB	chr15:62302567-62302836	IMR90	lung:	n/a	chr15:62302710-62302721
14	CEBPB	chr15:62265777-62266054	HepG2	liver:	n/a	chr15:62265887-62265898 chr15:62265886-62265897 chr15:62265888-62265897
15	CEBPB	chr15:62275283-62275661	Hela-S3	cervix:	n/a	chr15:62275465-62275476
16	CEBPB	chr15:62302620-62302823	Hela-S3	cervix:	n/a	chr15:62302710-62302721
17	CEBPB	chr15:62275367-62275598	MCF-7	breast:	n/a	chr15:62275465-62275476
18	CEBPB	chr15:62275362-62275602	HepG2	liver:	n/a	chr15:62275465-62275476
19	CEBPB	chr15:62302565-62302878	HepG2	liver:	n/a	chr15:62302710-62302721
20	CEBPB	chr15:62301294-62301592	K562	blood:	n/a	chr15:62301426-62301437 chr15:62301424-62301437 chr15:62301424-62301435
21	CEBPB	chr15:62312273-62312326	K562	blood:	n/a	n/a
22	CEBPB	chr15:62266744-62266785	HepG2	liver:	n/a	n/a
23	CHD1	chr15:62338325-62338537	GM12878	blood:	n/a	n/a
24	CHD2	chr15:62338367-62338529	GM12878	blood:	n/a	n/a
25	CTCF	chr15:62314170-62314566	HepG2	liver:	n/a	n/a
26	CTCF	chr15:62314280-62314430	SAEC	small airway:	n/a	n/a
27	CTCF	chr15:62314260-62314410	HEK293	kidney:	n/a	n/a
28	CTCF	chr15:62314260-62314410	GM12865	blood:	n/a	n/a
29	CTCF	chr15:62314266-62314481	HepG2	liver:	n/a	n/a
30	CTCF	chr15:62289960-62290110	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr15:62314300-62314450	HPF	lung:	n/a	n/a
32	CTCF	chr15:62314260-62314410	GM12875	blood:	n/a	n/a
33	CTCF	chr15:62314280-62314430	HMEC	breast:	n/a	n/a
34	CTCF	chr15:62314324-62314437	GM10266	blood:	n/a	n/a
35	CTCF	chr15:62314320-62314470	GM12869	blood:	n/a	n/a
36	CTCF	chr15:62314380-62314530	GM12878	blood:	n/a	n/a
37	CTCF	chr15:62289960-62290110	HCFaa	heart:	n/a	n/a
38	CTCF	chr15:62314320-62314470	HRE	kidney:	n/a	n/a
39	CTCF	chr15:62314220-62314370	NB4	blood:	n/a	n/a
40	CTCF	chr15:62314280-62314430	GM12873	blood:	n/a	n/a
41	CTCF	chr15:62314280-62314430	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr15:62314300-62314450	BE2_C	brain:	n/a	n/a
43	CTCF	chr15:62314290-62314457	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr15:62314380-62314530	Caco-2	colon:	n/a	n/a
45	CTCF	chr15:62314280-62314430	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr15:62314300-62314450	AG10803	skin:	n/a	n/a
47	CTCF	chr15:62314400-62314550	RPTEC	kidney:	n/a	n/a
48	CTCF	chr15:62314196-62314505	MCF-7	breast:	n/a	n/a
49	CTCF	chr15:62314300-62314450	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr15:62314264-62314473	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:62266682..62269656-chr15:62302600..62304271,2	K562	blood:
2	chr15:62268988..62271189-chr15:62273485..62276457,2	MCF-7	breast:
3	chr15:62259986..62262200-chr15:62266004..62268197,2	K562	blood:
4	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
5	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
6	chr15:62316405..62318620-chr15:62326377..62328272,2	MCF-7	breast:
7	chr15:62299637..62301994-chr15:62304316..62306759,2	K562	blood:
8	chr15:62280133..62283452-chr15:62316207..62318715,3	K562	blood:
9	chr15:62328623..62331543-chr15:62331564..62333336,2	MCF-7	breast:
10	chr11:22957855..22958444-chr15:62239142..62239729,2	MCF-7	breast:
11	chr15:62270934..62272587-chr15:62351243..62353224,2	MCF-7	breast:
12	chr15:62334378..62336089-chr15:62337603..62339508,2	K562	blood:
13	chr15:62249551..62252071-chr15:62252647..62254754,2	MCF-7	breast:
14	chr15:62299637..62301994-chr15:62304316..62306759,2	K562	blood:
15	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:
16	chr15:62248426..62250802-chr15:62259693..62261364,2	K562	blood:
17	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
18	chr15:62283744..62286045-chr15:62287984..62289712,2	K562	blood:
19	chr15:62328623..62331543-chr15:62331564..62333336,2	MCF-7	breast:
20	chr15:62279274..62280986-chr15:62358759..62361498,2	MCF-7	breast:
21	chr15:62275008..62277065-chr15:62352447..62354062,2	MCF-7	breast:
22	chr15:62316405..62318620-chr15:62326377..62328272,2	MCF-7	breast:
23	chr15:62248426..62250802-chr15:62259693..62261364,2	K562	blood:
24	chr15:62280133..62283452-chr15:62316207..62318715,3	K562	blood:
25	chr15:62266682..62269656-chr15:62302600..62304271,2	K562	blood:
26	chr15:62268988..62271189-chr15:62273485..62276457,2	MCF-7	breast:
27	chr15:62252284..62254348-chr15:62257141..62258725,2	K562	blood:
28	chr15:62311499..62313000-chr16:85836919..85839810,2	K562	blood:
29	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:
30	chr15:62304589..62306825-chr15:62320734..62322432,2	K562	blood:
31	chr15:62304589..62306825-chr15:62320734..62322432,2	K562	blood:
32	chr15:62259986..62262200-chr15:62266004..62268197,2	K562	blood:
33	chr15:62334378..62336089-chr15:62337603..62339508,2	K562	blood:
34	chr15:62222450..62224583-chr15:62247796..62249719,2	MCF-7	breast:
35	chr15:62283890..62286224-chr15:62350363..62353063,2	K562	blood:
36	chr15:62242750..62243662-chr5:173738637..173739199,2	MCF-7	breast:
37	chr15:62320983..62322579-chr15:62345142..62347207,2	K562	blood:

No data

Variant related genes	Relation type
VPS13C	TF binding region
ENSG00000259251	chromatin interactions
ENSG00000198535	chromatin interactions
ENSG00000129003	chromatin interactions
ENSG00000131143	chromatin interactions

Extended variants
information (count: 4187 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:4187 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7172145	chr15:62239697-62239698	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11371568	chr15:62239784-62239785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200842554	chr15:62239793-62239794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6494300	chr15:62239801-62239802	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544120722	chr15:62239836-62239837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545015984	chr15:62239869-62239870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563232141	chr15:62239894-62239895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139346156	chr15:62239915-62239916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548861429	chr15:62239917-62239918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567472104	chr15:62239931-62239932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528366308	chr15:62239953-62239954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546931703	chr15:62239982-62239983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192132649	chr15:62240016-62240017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7172638	chr15:62240051-62240052	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558180006	chr15:62240090-62240091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570042641	chr15:62240091-62240092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144073398	chr15:62240101-62240102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184981319	chr15:62240168-62240169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146584429	chr15:62240240-62240241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7173533	chr15:62240281-62240282	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553227633	chr15:62240293-62240294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578227945	chr15:62240353-62240354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35472174	chr15:62240395-62240396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140059936	chr15:62240424-62240425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563302268	chr15:62240439-62240440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190819574	chr15:62240448-62240449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530477158	chr15:62240456-62240457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542728092	chr15:62240502-62240503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560992641	chr15:62240590-62240591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193085058	chr15:62240600-62240601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56215106	chr15:62240603-62240604	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372780560	chr15:62240604-62240605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546846091	chr15:62240627-62240628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565176953	chr15:62240687-62240688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184622386	chr15:62240691-62240692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142332351	chr15:62240692-62240693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151255510	chr15:62240718-62240719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7167511	chr15:62240787-62240788	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563304822	chr15:62240794-62240795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188201279	chr15:62240807-62240808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75986709	chr15:62240883-62240884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201117373	chr15:62240894-62240895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150494216	chr15:62240915-62240916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180764128	chr15:62240919-62240920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113870661	chr15:62240946-62240947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552346053	chr15:62240983-62240984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565487062	chr15:62240984-62240985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62007764	chr15:62241054-62241055	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs185771909	chr15:62241087-62241088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532844978	chr15:62241096-62241097	Weak transcription Strong 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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2047 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
2	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
3	chr15:62185600-62262200	Weak transcription	Gastric	stomach
4	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
5	chr15:62185800-62300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:62187200-62246000	Weak transcription	A549	lung
7	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:62194600-62266800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:62195600-62285400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr15:62206600-62242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:62207800-62263200	Weak transcription	Fetal Brain Female	brain
12	chr15:62208200-62263200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:62208200-62290200	Weak transcription	Aorta	Aorta
14	chr15:62208400-62253200	Weak transcription	Thymus	Thymus
15	chr15:62209800-62250600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:62209800-62252400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:62210000-62242800	Weak transcription	Brain Substantia Nigra	brain
18	chr15:62214800-62240200	Weak transcription	HMEC	breast
19	chr15:62214800-62250800	Weak transcription	NH-A	brain
20	chr15:62214800-62253600	Weak transcription	HepG2	liver
21	chr15:62214800-62265600	Weak transcription	Fetal Kidney	kidney
22	chr15:62219600-62253000	Weak transcription	Fetal Intestine Small	intestine
23	chr15:62221400-62327600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:62221600-62244400	Weak transcription	Small Intestine	intestine
25	chr15:62221600-62245800	Weak transcription	Fetal Thymus	thymus
26	chr15:62221600-62253000	Weak transcription	Fetal Stomach	stomach
27	chr15:62222600-62253600	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:62223400-62266600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:62227200-62243000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:62228200-62255800	Weak transcription	HSMMtube	muscle
31	chr15:62229200-62246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:62229400-62280200	Weak transcription	K562	blood
33	chr15:62229800-62260800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr15:62230600-62240000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:62230800-62317200	Weak transcription	Pancreas	Pancrea
36	chr15:62233200-62243000	Strong transcription	Adipose Nuclei	Adipose
37	chr15:62234000-62242000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr15:62234200-62240400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:62234200-62240600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:62234200-62258600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:62234800-62257000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:62235400-62244000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr15:62235600-62247600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:62235600-62277400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr15:62235800-62285000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:62236000-62255800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:62236000-62267000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:62236200-62242800	Strong transcription	HSMM	muscle
49	chr15:62236200-62245000	Strong transcription	Liver	Liver
50	chr15:62236200-62267000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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