Variant report

Variant	nsv569642
Chromosome Location	chr15:62178695-62243197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:266)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:62199453-62200154	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:62180335-62180383	K562	blood:	n/a	n/a
3	BACH1	chr15:62234203-62234206	K562	blood:	n/a	n/a
4	CBX3	chr15:62185381-62185684	K562	blood:	n/a	n/a
5	CEBPB	chr15:62239060-62239292	IMR90	lung:	n/a	n/a
6	CEBPB	chr15:62227747-62228056	Hela-S3	cervix:	n/a	chr15:62227893-62227904
7	CEBPB	chr15:62227701-62228189	K562	blood:	n/a	chr15:62227893-62227904
8	CEBPB	chr15:62180307-62180564	HepG2	liver:	n/a	chr15:62180454-62180465
9	CEBPB	chr15:62180336-62180636	A549	lung:	n/a	chr15:62180454-62180465
10	CEBPB	chr15:62180324-62180597	Hela-S3	cervix:	n/a	chr15:62180454-62180465
11	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
12	CEBPB	chr15:62180280-62180649	IMR90	lung:	n/a	chr15:62180454-62180465
13	CEBPB	chr15:62197996-62198309	HepG2	liver:	n/a	n/a
14	CEBPB	chr15:62180357-62180498	H1-hESC	embryonic stem cell:	n/a	chr15:62180454-62180465
15	CEBPB	chr15:62180373-62180630	K562	blood:	n/a	chr15:62180454-62180465
16	CEBPB	chr15:62232985-62233209	HepG2	liver:	n/a	n/a
17	CEBPB	chr15:62199668-62200070	HepG2	liver:	n/a	n/a
18	CEBPB	chr15:62182374-62182601	A549	lung:	n/a	n/a
19	CEBPB	chr15:62227818-62228070	A549	lung:	n/a	chr15:62227893-62227904
20	CHD2	chr15:62221823-62221825	GM12878	blood:	n/a	n/a
21	CTCF	chr15:62208360-62208510	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr15:62208340-62208490	HAc	cerebellar:	n/a	n/a
23	CTCF	chr15:62184580-62184730	BE2_C	brain:	n/a	n/a
24	CTCF	chr15:62208380-62208530	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr15:62208280-62208430	BE2_C	brain:	n/a	n/a
26	CTCF	chr15:62208300-62208450	BE2_C	brain:	n/a	n/a
27	CTCF	chr15:62184540-62184690	BE2_C	brain:	n/a	n/a
28	CTCF	chr15:62201440-62201505	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:62208320-62208470	BJ	skin:	n/a	n/a
30	CTCF	chr15:62184513-62184605	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr15:62184480-62184630	HepG2	liver:	n/a	n/a
32	CTCF	chr15:62208380-62208530	AG10803	skin:	n/a	n/a
33	CTCF	chr15:62208360-62208510	AG10803	skin:	n/a	n/a
34	CTCF	chr15:62208360-62208510	BJ	skin:	n/a	n/a
35	CTCF	chr15:62208320-62208470	AG04449	skin:	n/a	n/a
36	CTCF	chr15:62184580-62184730	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr15:62240716-62240764	GM20000	blood:	n/a	n/a
38	CTCF	chr15:62184360-62184809	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr15:62208400-62208550	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr15:62208280-62208430	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr15:62184500-62184650	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr15:62201420-62201570	GM12871	blood:	n/a	n/a
43	CTCF	chr15:62201360-62201510	A549	lung:	n/a	n/a
44	CTCF	chr15:62201413-62201513	MCF-7	breast:	n/a	n/a
45	CTCF	chr15:62201490-62201536	GM20000	blood:	n/a	n/a
46	CTCF	chr15:62208340-62208490	AG04449	skin:	n/a	n/a
47	CTCF	chr15:62201451-62201513	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr15:62208300-62208450	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr15:62201462-62201522	MCF-7	breast:	n/a	n/a
50	CTCF	chr15:62201380-62201530	HepG2	liver:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
2	chr15:62222450..62224583-chr15:62247796..62249719,2	MCF-7	breast:
3	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
4	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:
5	chr15:62195135..62197262-chr15:62198825..62201096,2	MCF-7	breast:
6	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
7	chr15:62178968..62180848-chr15:62186299..62188013,2	K562	blood:
8	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
9	chr15:62170697..62173317-chr15:62182241..62184749,2	MCF-7	breast:
10	chr15:62195135..62197262-chr15:62198825..62201096,2	MCF-7	breast:
11	chr15:62205557..62210722-chr15:62211814..62216434,5	K562	blood:
12	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
13	chr15:62178968..62180848-chr15:62186299..62188013,2	K562	blood:
14	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
15	chr11:22957855..22958444-chr15:62239142..62239729,2	MCF-7	breast:
16	chr15:62157514..62159480-chr15:62215874..62217523,2	K562	blood:
17	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
18	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
19	chr15:62204266..62207135-chr15:62210768..62213468,2	MCF-7	breast:
20	chr15:62242750..62243662-chr5:173738637..173739199,2	MCF-7	breast:
21	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
22	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 2788 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2788 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12439719	chr15:62178695-62178696	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531191008	chr15:62178697-62178698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369727435	chr15:62178703-62178704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549690627	chr15:62178714-62178715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575543001	chr15:62178735-62178736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568006317	chr15:62178744-62178745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138576829	chr15:62178747-62178748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34533814	chr15:62178785-62178786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546293360	chr15:62178797-62178798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571291530	chr15:62178825-62178826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199769822	chr15:62178921-62178922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141548658	chr15:62178972-62178973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544507681	chr15:62178988-62178989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556696470	chr15:62178995-62178996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192620147	chr15:62179040-62179041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536087267	chr15:62179085-62179086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145212991	chr15:62179119-62179120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573092132	chr15:62179169-62179170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112512984	chr15:62179183-62179184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541384520	chr15:62179211-62179212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184817689	chr15:62179222-62179223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189171431	chr15:62179230-62179231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138132649	chr15:62179243-62179244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545182293	chr15:62179309-62179310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563813936	chr15:62179317-62179318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139641843	chr15:62179334-62179335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182380654	chr15:62179335-62179336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531125085	chr15:62179473-62179474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373636453	chr15:62179580-62179581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189349140	chr15:62179588-62179589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34585045	chr15:62179604-62179605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528802917	chr15:62179605-62179606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546528549	chr15:62179661-62179662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149526420	chr15:62179669-62179670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532171394	chr15:62179705-62179706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532045994	chr15:62179747-62179748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550256025	chr15:62179765-62179766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568636795	chr15:62179770-62179771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144136376	chr15:62179779-62179780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148677483	chr15:62179806-62179807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566733728	chr15:62179838-62179839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563339128	chr15:62179851-62179852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113266807	chr15:62179870-62179871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533850265	chr15:62179897-62179898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553292556	chr15:62179913-62179914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180921068	chr15:62179976-62179977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539083071	chr15:62179986-62179987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111448744	chr15:62179993-62179994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557469311	chr15:62180011-62180012	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575823847	chr15:62180071-62180072	Weak transcription Strong transcription Genic enhancers	n/a	n/a	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:1591 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62138800-62184200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:62139200-62182200	Weak transcription	Brain Substantia Nigra	brain
3	chr15:62139800-62185200	Weak transcription	NHLF	lung
4	chr15:62140000-62184800	Weak transcription	Right Ventricle	heart
5	chr15:62140200-62180000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:62142000-62209400	Weak transcription	Colonic Mucosa	Colon
7	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
8	chr15:62142600-62209200	Weak transcription	K562	blood
9	chr15:62143800-62182200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
11	chr15:62144000-62194600	Weak transcription	Fetal Lung	lung
12	chr15:62144800-62184000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:62145200-62182000	Weak transcription	NHEK	skin
14	chr15:62145800-62182000	Weak transcription	Small Intestine	intestine
15	chr15:62146800-62230000	Weak transcription	Pancreas	Pancrea
16	chr15:62147000-62181800	Weak transcription	Brain Anterior Caudate	brain
17	chr15:62147000-62184000	Weak transcription	Lung	lung
18	chr15:62147800-62184000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:62149000-62198000	Weak transcription	Fetal Kidney	kidney
20	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
21	chr15:62150200-62184200	Weak transcription	Aorta	Aorta
22	chr15:62150200-62185400	Weak transcription	Fetal Heart	heart
23	chr15:62150800-62182000	Weak transcription	HSMMtube	muscle
24	chr15:62150800-62183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr15:62153200-62185400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr15:62153800-62185000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:62154200-62198200	Weak transcription	NH-A	brain
28	chr15:62154400-62184200	Weak transcription	Fetal Intestine Small	intestine
29	chr15:62154600-62183800	Weak transcription	Brain Angular Gyrus	brain
30	chr15:62154800-62184200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:62155000-62184600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:62161800-62184200	Weak transcription	Fetal Brain Female	brain
33	chr15:62162600-62195200	Weak transcription	Fetal Stomach	stomach
34	chr15:62163000-62181800	Weak transcription	A549	lung
35	chr15:62163000-62182400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:62163000-62184800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr15:62163000-62198400	Weak transcription	Osteobl	bone
38	chr15:62163200-62180200	Weak transcription	NHDF-Ad	bronchial
39	chr15:62163400-62184000	Weak transcription	Fetal Muscle Leg	muscle
40	chr15:62163600-62184800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:62163800-62181600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:62163800-62181800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:62163800-62184200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:62163800-62185400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:62164000-62179000	Weak transcription	Hela-S3	cervix
46	chr15:62165400-62179000	Weak transcription	HSMM	muscle
47	chr15:62165400-62185000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:62165600-62180000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:62165600-62185400	Weak transcription	Gastric	stomach
50	chr15:62165600-62198400	Weak transcription	Thymus	Thymus

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