Variant report

Variant	nsv522166
Chromosome Location	chr15:58623408-58624328
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	chr15:58623672-58624907	K562	blood:	n/a	n/a
2	ARID3A	chr15:58623578-58625628	HepG2	liver:	n/a	n/a
3	ATF1	chr15:58623866-58624808	K562	blood:	n/a	n/a
4	ATF2	chr15:58624162-58624763	GM12878	blood:	n/a	n/a
5	ATF2	chr15:58623972-58624957	GM12878	blood:	n/a	n/a
6	ATF3	chr15:58624054-58625674	A549	lung:	n/a	n/a
7	ATF3	chr15:58624044-58625777	A549	lung:	n/a	n/a
8	ATF3	chr15:58623771-58625197	K562	blood:	n/a	n/a
9	BACH1	chr15:58623979-58624983	K562	blood:	n/a	chr15:58624537-58624551
10	BATF	chr15:58624074-58624792	GM12878	blood:	n/a	chr15:58624541-58624551
11	BCL11A	chr15:58624266-58624750	GM12878	blood:	n/a	n/a
12	BCL3	chr15:58624004-58626106	A549	lung:	n/a	chr15:58624221-58624230
13	BCL3	chr15:58623798-58625792	A549	lung:	n/a	chr15:58624221-58624230
14	BCLAF1	chr15:58624033-58624826	GM12878	blood:	n/a	chr15:58624221-58624230
15	BCLAF1	chr15:58623947-58625017	K562	blood:	n/a	chr15:58624221-58624230
16	BCLAF1	chr15:58624018-58624837	K562	blood:	n/a	chr15:58624221-58624230
17	BHLHE40	chr15:58623965-58624800	HepG2	liver:	n/a	n/a
18	BHLHE40	chr15:58623847-58625251	K562	blood:	n/a	n/a
19	BHLHE40	chr15:58624167-58624857	GM12878	blood:	n/a	n/a
20	BRCA1	chr15:58623298-58624951	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr15:58623855-58624996	HCT-116	colon:	n/a	n/a
22	CBX3	chr15:58623813-58625343	K562	blood:	n/a	n/a
23	CCNT2	chr15:58623844-58624846	K562	blood:	n/a	n/a
24	CEBPB	chr15:58623606-58623963	K562	blood:	n/a	chr15:58623913-58623926
25	CEBPB	chr15:58623576-58623670	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr15:58623547-58625578	A549	lung:	n/a	chr15:58623913-58623926
27	CEBPB	chr15:58623484-58624723	K562	blood:	n/a	chr15:58623913-58623926
28	CEBPB	chr15:58623531-58624692	IMR90	lung:	n/a	chr15:58623913-58623926
29	CEBPB	chr15:58624052-58624800	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr15:58624102-58624875	GM12878	blood:	n/a	n/a
31	CEBPB	chr15:58623357-58624732	HepG2	liver:	n/a	chr15:58623913-58623926
32	CEBPB	chr15:58622930-58625028	Hela-S3	cervix:	n/a	chr15:58623913-58623926
33	CEBPB	chr15:58623524-58625784	A549	lung:	n/a	chr15:58623913-58623926
34	CEBPB	chr15:58624165-58624806	A549	lung:	n/a	n/a
35	CEBPB	chr15:58623505-58624914	K562	blood:	n/a	chr15:58623913-58623926
36	CEBPD	chr15:58623971-58625183	K562	blood:	n/a	n/a
37	CEBPD	chr15:58624056-58625229	K562	blood:	n/a	n/a
38	CHD1	chr15:58623329-58626007	IMR90	lung:	n/a	n/a
39	CHD2	chr15:58624003-58624776	HepG2	liver:	n/a	n/a
40	CHD2	chr15:58624210-58624832	GM12878	blood:	n/a	n/a
41	CHD2	chr15:58623606-58625363	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr15:58624156-58625238	K562	blood:	n/a	n/a
43	CREB1	chr15:58624108-58624883	HepG2	liver:	n/a	n/a
44	CREB1	chr15:58624164-58624776	A549	lung:	n/a	n/a
45	CREB1	chr15:58624280-58624694	A549	lung:	n/a	n/a
46	CREB1	chr15:58624258-58624843	HepG2	liver:	n/a	n/a
47	CREB1	chr15:58624138-58624864	GM12878	blood:	n/a	n/a
48	CUX1	chr15:58623880-58625008	K562	blood:	n/a	n/a
49	E2F6	chr15:58624304-58625278	K562	blood:	n/a	n/a
50	EBF1	chr15:58624324-58625579	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58623181..58625459-chr15:58764481..58766715,2	MCF-7	breast:
2	chr15:58586503..58588375-chr15:58623839..58625540,2	K562	blood:
3	chr15:58356493..58358577-chr15:58620625..58623547,2	K562	blood:
4	chr15:58622254..58626014-chr15:59062445..59064794,4	K562	blood:
5	chr15:58623889..58626326-chr15:58704441..58709164,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM10-9	chr15:58623378-58623829	NONHSAT044104
2	lnc-ADAM10-9	chr15:58623378-58623578	NONHSAT044107
3	lnc-ADAM10-9	chr15:58623378-58623663	NONHSAT044106

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000128923	chromatin interactions
ENSG00000128918	chromatin interactions
ENSG00000259285	chromatin interactions
ENSG00000245975	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1552505	chr15:58623408-58623409	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116291964	chr15:58623413-58623414	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs142787250	chr15:58623418-58623419	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs1122207	chr15:58623424-58623425	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536790521	chr15:58623437-58623438	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs150801356	chr15:58623444-58623445	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs12905748	chr15:58623465-58623466	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539440894	chr15:58623502-58623503	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs1122208	chr15:58623525-58623526	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs184337289	chr15:58623530-58623531	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs189036933	chr15:58623535-58623536	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs572000367	chr15:58623553-58623554	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs139176287	chr15:58623560-58623561	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs117161027	chr15:58623600-58623601	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs372514810	chr15:58623611-58623612	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs2016415	chr15:58623632-58623633	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192302455	chr15:58623658-58623659	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs577127060	chr15:58623673-58623674	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs149575330	chr15:58623674-58623675	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs184836994	chr15:58623678-58623679	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs16940059	chr15:58623696-58623697	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368003204	chr15:58623733-58623734	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs561580807	chr15:58623744-58623745	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs76601435	chr15:58623762-58623763	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs550233551	chr15:58623838-58623839	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs144229948	chr15:58623839-58623840	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs190730245	chr15:58623841-58623842	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs546579946	chr15:58623844-58623845	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs566242631	chr15:58623863-58623864	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs2016405	chr15:58623865-58623866	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs535383404	chr15:58623920-58623921	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs80219552	chr15:58623925-58623926	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs186087671	chr15:58623954-58623955	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs537655568	chr15:58623959-58623960	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs557133027	chr15:58623974-58623975	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs78363029	chr15:58624019-58624020	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs76816314	chr15:58624038-58624039	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs553372030	chr15:58624044-58624045	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs189354225	chr15:58624056-58624057	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs559010044	chr15:58624058-58624059	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs116376273	chr15:58624076-58624077	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs61349037	chr15:58624117-58624118	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs201271522	chr15:58624119-58624120	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs397695488	chr15:58624120-58624121	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs541750729	chr15:58624138-58624139	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs561669717	chr15:58624159-58624160	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs12594686	chr15:58624191-58624192	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544012128	chr15:58624196-58624197	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs563980837	chr15:58624242-58624243	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs533096781	chr15:58624258-58624259	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Cancer	21129771	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58621200-58624000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:58621200-58624800	Enhancers	Primary T cells from cord blood	blood
3	chr15:58621400-58624200	Flanking Active TSS	Liver	Liver
4	chr15:58621400-58625200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr15:58621800-58624400	Enhancers	Fetal Kidney	kidney
6	chr15:58621800-58625400	Enhancers	Primary B cells from cord blood	blood
7	chr15:58622000-58623600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:58622000-58623600	Enhancers	Small Intestine	intestine
9	chr15:58622000-58623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:58622000-58623800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr15:58622000-58624000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:58622000-58624000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:58622000-58624000	Enhancers	Stomach Smooth Muscle	stomach
14	chr15:58622000-58624200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr15:58622000-58624400	Flanking Active TSS	Hela-S3	cervix
16	chr15:58622000-58624600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr15:58622000-58624600	Enhancers	Thymus	Thymus
18	chr15:58622000-58625000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr15:58622000-58625200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:58622000-58625200	Enhancers	Colonic Mucosa	Colon
21	chr15:58622000-58625400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:58622000-58625400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:58622000-58625400	Enhancers	Fetal Muscle Leg	muscle
24	chr15:58622000-58625400	Enhancers	Fetal Thymus	thymus
25	chr15:58622000-58625400	Flanking Active TSS	HepG2	liver
26	chr15:58622000-58625600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:58622000-58625600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:58622000-58625800	Enhancers	Esophagus	oesophagus
29	chr15:58622000-58626000	Enhancers	Fetal Stomach	stomach
30	chr15:58622000-58626000	Enhancers	Left Ventricle	heart
31	chr15:58622000-58626000	Enhancers	Pancreas	Pancrea
32	chr15:58622000-58626000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:58622000-58626000	Enhancers	Right Atrium	heart
34	chr15:58622000-58627200	Enhancers	Placenta	Placenta
35	chr15:58622200-58623600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:58622200-58623600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:58622200-58623600	Enhancers	Gastric	stomach
38	chr15:58622200-58623800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:58622200-58623800	Enhancers	Brain Anterior Caudate	brain
40	chr15:58622200-58623800	Enhancers	Lung	lung
41	chr15:58622200-58624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:58622200-58624000	Enhancers	Brain Cingulate Gyrus	brain
43	chr15:58622200-58624000	Enhancers	Brain Hippocampus Middle	brain
44	chr15:58622200-58624000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:58622200-58624600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr15:58622200-58625200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr15:58622200-58625200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr15:58622200-58625200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr15:58622200-58625200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:58622200-58625400	Enhancers	NHEK	skin

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