Variant report

Variant	nsv569644
Chromosome Location	chr15:62202482-62247067
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	BACH1	chr15:62234203-62234206	K562	blood:	n/a	n/a
2	CEBPB	chr15:62225483-62225689	K562	blood:	n/a	chr15:62225584-62225597 chr15:62225586-62225597 chr15:62225531-62225544 chr15:62225584-62225597 chr15:62225584-62225597 chr15:62225586-62225597
3	CEBPB	chr15:62239060-62239292	IMR90	lung:	n/a	n/a
4	CEBPB	chr15:62232985-62233209	HepG2	liver:	n/a	n/a
5	CEBPB	chr15:62227701-62228189	K562	blood:	n/a	chr15:62227893-62227904
6	CEBPB	chr15:62227818-62228070	A549	lung:	n/a	chr15:62227893-62227904
7	CEBPB	chr15:62227747-62228056	Hela-S3	cervix:	n/a	chr15:62227893-62227904
8	CHD2	chr15:62221823-62221825	GM12878	blood:	n/a	n/a
9	CTCF	chr15:62208400-62208550	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr15:62208280-62208430	BE2_C	brain:	n/a	n/a
11	CTCF	chr15:62208360-62208510	BJ	skin:	n/a	n/a
12	CTCF	chr15:62208360-62208510	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr15:62208280-62208430	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr15:62208380-62208530	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr15:62208340-62208490	HMF	breast:	n/a	n/a
16	CTCF	chr15:62208360-62208510	AG10803	skin:	n/a	n/a
17	CTCF	chr15:62208360-62208510	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr15:62208320-62208470	BJ	skin:	n/a	n/a
19	CTCF	chr15:62208300-62208450	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr15:62240716-62240764	GM20000	blood:	n/a	n/a
21	CTCF	chr15:62208380-62208530	AG10803	skin:	n/a	n/a
22	CTCF	chr15:62208340-62208490	AG04449	skin:	n/a	n/a
23	CTCF	chr15:62208340-62208490	HAc	cerebellar:	n/a	n/a
24	CTCF	chr15:62208300-62208450	BE2_C	brain:	n/a	n/a
25	CTCF	chr15:62208320-62208470	AG04449	skin:	n/a	n/a
26	E2F4	chr15:62227748-62228018	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr15:62238951-62239488	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr15:62208306-62208691	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr15:62229165-62229278	K562	blood:	n/a	n/a
30	EP300	chr15:62216723-62216825	K562	blood:	n/a	n/a
31	EP300	chr15:62207894-62208181	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr15:62228966-62229351	SK-N-SH_RA	brain:	n/a	chr15:62229110-62229120
33	EP300	chr15:62207933-62208217	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr15:62208326-62208685	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr15:62207453-62208947	SK-N-SH	brain:	n/a	n/a
36	EP300	chr15:62228760-62229719	SK-N-SH	brain:	n/a	chr15:62229110-62229120
37	EP300	chr15:62229089-62229302	SK-N-SH_RA	brain:	n/a	chr15:62229110-62229120
38	FOS	chr15:62213297-62213598	MCF10A-Er-Src	breast:	n/a	chr15:62213542-62213550 chr15:62213438-62213447 chr15:62213543-62213554 chr15:62213542-62213549 chr15:62213439-62213448
39	FOS	chr15:62227815-62228051	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr15:62239004-62239346	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr15:62227806-62228017	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr15:62213304-62213654	HUVEC	blood vessel:	n/a	chr15:62213542-62213550 chr15:62213438-62213447 chr15:62213543-62213554 chr15:62213542-62213549 chr15:62213439-62213448
43	FOS	chr15:62213319-62213614	MCF10A-Er-Src	breast:	n/a	chr15:62213542-62213550 chr15:62213438-62213447 chr15:62213543-62213554 chr15:62213542-62213549 chr15:62213439-62213448
44	FOS	chr15:62227817-62228032	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr15:62239077-62239284	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr15:62213292-62213663	MCF10A-Er-Src	breast:	n/a	chr15:62213542-62213550 chr15:62213438-62213447 chr15:62213543-62213554 chr15:62213542-62213549 chr15:62213439-62213448
47	FOS	chr15:62213293-62213663	MCF10A-Er-Src	breast:	n/a	chr15:62213542-62213550 chr15:62213438-62213447 chr15:62213543-62213554 chr15:62213542-62213549 chr15:62213439-62213448
48	FOS	chr15:62239027-62239375	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr15:62227788-62228008	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr15:62239030-62239352	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
2	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
3	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
4	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
5	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
6	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
7	chr15:62242750..62243662-chr5:173738637..173739199,2	MCF-7	breast:
8	chr15:62205557..62210722-chr15:62211814..62216434,5	K562	blood:
9	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
10	chr15:62222450..62224583-chr15:62247796..62249719,2	MCF-7	breast:
11	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
12	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
13	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
14	chr11:22957855..22958444-chr15:62239142..62239729,2	MCF-7	breast:
15	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:
16	chr15:62157514..62159480-chr15:62215874..62217523,2	K562	blood:
17	chr15:62204266..62207135-chr15:62210768..62213468,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2CD4A-10	chr15:62206624-62206875	NONHSAT044263

Variant related genes	Relation type
VPS13C	TF binding region
RN7SL613P	TF binding region
ENSG00000264376	chromatin interactions
ENSG00000129003	chromatin interactions

Extended variants
information (count: 1949 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1949 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10851704	chr15:62202482-62202483	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149819831	chr15:62202487-62202488	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200341577	chr15:62202497-62202498	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200603241	chr15:62202514-62202515	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs576672395	chr15:62202520-62202521	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs377327854	chr15:62202537-62202538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370467909	chr15:62202538-62202539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373962550	chr15:62202544-62202545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143204565	chr15:62202545-62202546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574394208	chr15:62202591-62202592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532055563	chr15:62202601-62202602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559297209	chr15:62202625-62202626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10851705	chr15:62202638-62202639	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545072460	chr15:62202647-62202648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563060948	chr15:62202676-62202677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80310505	chr15:62202722-62202723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190956898	chr15:62202799-62202800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368017957	chr15:62202807-62202808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546628184	chr15:62202837-62202838	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs72747879	chr15:62202848-62202849	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371475243	chr15:62202874-62202875	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs75101458	chr15:62202949-62202950	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs148208769	chr15:62202975-62202976	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116009354	chr15:62203060-62203061	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs537609311	chr15:62203072-62203073	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs4775451	chr15:62203080-62203081	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574181410	chr15:62203088-62203089	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs182467307	chr15:62203108-62203109	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553430736	chr15:62203128-62203129	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115630378	chr15:62203155-62203156	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575419512	chr15:62203236-62203237	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372317735	chr15:62203331-62203332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141150821	chr15:62203347-62203348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186643706	chr15:62203401-62203402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150710586	chr15:62203407-62203408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116213281	chr15:62203427-62203428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542346612	chr15:62203610-62203611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560724540	chr15:62203739-62203740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79159785	chr15:62203764-62203765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190084927	chr15:62203797-62203798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35787945	chr15:62203821-62203822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367873827	chr15:62203841-62203842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371781705	chr15:62203855-62203856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78579533	chr15:62203878-62203879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12906423	chr15:62203884-62203885	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183050606	chr15:62203889-62203890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537521872	chr15:62203916-62203917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187510499	chr15:62203921-62203922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545467240	chr15:62203931-62203932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78703863	chr15:62203950-62203951	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1096 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62142000-62209400	Weak transcription	Colonic Mucosa	Colon
2	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
3	chr15:62142600-62209200	Weak transcription	K562	blood
4	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
5	chr15:62146800-62230000	Weak transcription	Pancreas	Pancrea
6	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
7	chr15:62184600-62236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:62185000-62221000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:62185600-62207000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:62185600-62207200	Weak transcription	Hela-S3	cervix
11	chr15:62185600-62208000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:62185600-62208000	Weak transcription	Aorta	Aorta
13	chr15:62185600-62209200	Weak transcription	NHLF	lung
14	chr15:62185600-62262200	Weak transcription	Gastric	stomach
15	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
16	chr15:62185800-62300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:62186000-62208000	Weak transcription	Fetal Heart	heart
18	chr15:62187200-62246000	Weak transcription	A549	lung
19	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:62193200-62207200	Weak transcription	HMEC	breast
21	chr15:62193800-62208200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:62194600-62207400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:62194600-62210200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:62194600-62235400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:62194600-62266800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr15:62194800-62207200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:62194800-62225600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:62195000-62204400	Strong transcription	Dnd41	blood
29	chr15:62195000-62215000	Strong transcription	Adipose Nuclei	Adipose
30	chr15:62195000-62219800	Strong transcription	Primary B cells from cord blood	blood
31	chr15:62195200-62203800	Strong transcription	Placenta	Placenta
32	chr15:62195200-62217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:62195400-62206000	Weak transcription	Ovary	ovary
34	chr15:62195400-62206400	Weak transcription	Fetal Stomach	stomach
35	chr15:62195400-62215200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:62195400-62234200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr15:62195400-62235800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:62195600-62206400	Weak transcription	Fetal Intestine Small	intestine
39	chr15:62195600-62285400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr15:62195800-62203400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:62195800-62204200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr15:62196000-62214800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:62196200-62214600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr15:62196400-62207200	Weak transcription	NHEK	skin
45	chr15:62196400-62210000	Strong transcription	Primary T cells from cord blood	blood
46	chr15:62196400-62225200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:62196600-62207200	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:62196800-62215000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:62197000-62207800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:62197000-62208200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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