Variant report

Variant	nsv819986
Chromosome Location	chr15:56208434-56209256
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	CEBPB	chr15:56208137-56208534	IMR90	lung:	n/a	n/a
2	CTCF	chr15:56207813-56210860	A549	lung:	n/a	chr15:56210210-56210228 chr15:56210216-56210225 chr15:56210212-56210225
3	ELF1	chr15:56209198-56209852	SK-N-SH	brain:	n/a	chr15:56209544-56209555
4	FOS	chr15:56208080-56208684	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr15:56208124-56208547	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr15:56207451-56208554	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr15:56209231-56209597	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr15:56209137-56209660	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr15:56209161-56209692	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr15:56209176-56209606	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL2	chr15:56208967-56209781	SK-N-SH	brain:	n/a	n/a
12	FOSL2	chr15:56208977-56209679	A549	lung:	n/a	n/a
13	GATA3	chr15:56209002-56209794	SK-N-SH	brain:	n/a	n/a
14	MAFK	chr15:56208832-56209524	IMR90	lung:	n/a	n/a
15	MYC	chr15:56208830-56209499	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr15:56208161-56208450	MCF10A-Er-Src	breast:	n/a	n/a
17	NR3C1	chr15:56208122-56208500	A549	lung:	n/a	n/a
18	NR3C1	chr15:56208042-56208595	A549	lung:	n/a	n/a
19	NR3C1	chr15:56207938-56208653	A549	lung:	n/a	n/a
20	NR3C1	chr15:56208090-56208563	A549	lung:	n/a	n/a
21	NR3C1	chr15:56208048-56208577	A549	lung:	n/a	n/a
22	NR3C1	chr15:56207998-56208580	A549	lung:	n/a	n/a
23	PBX3	chr15:56209015-56209549	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr15:56208392-56209563	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr15:56209070-56209517	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr15:56209209-56209348	ProgFib	skin:	n/a	n/a
27	POLR2A	chr15:56208803-56209657	U87	brain:	n/a	n/a
28	POLR2A	chr15:56209096-56209507	IMR90	lung:	n/a	n/a
29	POLR2A	chr15:56209044-56209566	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr15:56207960-56208710	U87	brain:	n/a	n/a
31	POLR2A	chr15:56209190-56209522	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr15:56209131-56209495	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr15:56208428-56208600	A549	lung:	n/a	n/a
34	POLR2A	chr15:56208830-56209657	U87	brain:	n/a	n/a
35	POLR2A	chr15:56208233-56208458	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr15:56207315-56208497	U87	brain:	n/a	n/a
37	POLR2A	chr15:56207960-56208692	U87	brain:	n/a	n/a
38	POLR2A	chr15:56209178-56209475	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:56208821-56209581	U87	brain:	n/a	n/a
40	STAT3	chr15:56208899-56209037	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr15:56209106-56209558	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr15:56209252-56209565	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr15:56208142-56208478	MCF10A-Er-Src	breast:	n/a	chr15:56208340-56208351
44	TAF1	chr15:56209164-56209387	Hela-S3	cervix:	n/a	n/a
45	TAF1	chr15:56209133-56209462	SK-N-SH	brain:	n/a	n/a
46	TBP	chr15:56209212-56209575	Hela-S3	cervix:	n/a	n/a
47	TCF12	chr15:56208949-56209757	SK-N-SH	brain:	n/a	n/a
48	TCF12	chr15:56208460-56209717	A549	lung:	n/a	n/a
49	TCF12	chr15:56208835-56209657	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
NEDD4	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368960297	chr15:56208441-56208442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371369154	chr15:56208459-56208460	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113176671	chr15:56208463-56208464	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143372577	chr15:56208476-56208477	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566693662	chr15:56208489-56208490	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375873855	chr15:56208497-56208498	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs367875084	chr15:56208498-56208499	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371735605	chr15:56208504-56208505	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs12593255	chr15:56208534-56208535	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs12440230	chr15:56208535-56208536	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568199003	chr15:56208605-56208606	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs141563734	chr15:56208609-56208610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145779563	chr15:56208611-56208612	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs150886795	chr15:56208645-56208646	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs371693265	chr15:56208646-56208647	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs369468383	chr15:56208672-56208673	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs139682945	chr15:56208688-56208689	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373763592	chr15:56208719-56208720	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557241574	chr15:56208727-56208728	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370123066	chr15:56208734-56208735	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113502754	chr15:56208745-56208746	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs146216406	chr15:56208746-56208747	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372470866	chr15:56208755-56208756	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs542978653	chr15:56208757-56208758	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139163169	chr15:56208760-56208761	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377041774	chr15:56208761-56208762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370536170	chr15:56208791-56208792	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191914819	chr15:56208814-56208815	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs377587799	chr15:56208815-56208816	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111308798	chr15:56208822-56208823	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs80077833	chr15:56208835-56208836	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561683117	chr15:56208852-56208853	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148700559	chr15:56208903-56208904	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1912403	chr15:56208933-56208934	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs147836888	chr15:56208941-56208942	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs115484917	chr15:56208943-56208944	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs564085223	chr15:56208948-56208949	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs184103907	chr15:56208949-56208950	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs146972216	chr15:56208956-56208957	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs147696976	chr15:56208970-56208971	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs140975138	chr15:56208982-56208983	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs199985462	chr15:56208983-56208984	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368938590	chr15:56208989-56208990	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs150752813	chr15:56209001-56209002	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs150200430	chr15:56209014-56209015	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs186893284	chr15:56209025-56209026	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs139142216	chr15:56209049-56209050	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368412958	chr15:56209076-56209077	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs192202649	chr15:56209086-56209087	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs537098199	chr15:56209121-56209122	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region	1 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
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
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56176000-56216200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:56188600-56218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:56190000-56220000	Weak transcription	Pancreas	Pancrea
4	chr15:56190200-56221200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:56190400-56219800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:56192600-56209000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:56200200-56208600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:56200200-56213200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:56200400-56209000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:56200800-56218000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:56201000-56230000	Weak transcription	Fetal Intestine Large	intestine
12	chr15:56201200-56217200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:56203600-56209600	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr15:56204600-56209800	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr15:56204800-56210400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:56205000-56208600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:56206800-56217800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:56207000-56208600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:56207000-56208800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:56207400-56209200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:56207400-56209400	Flanking Active TSS	Hela-S3	cervix
22	chr15:56207400-56209600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:56207400-56209600	Active TSS	Psoas Muscle	Psoas
24	chr15:56207400-56210000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:56207400-56210400	Weak transcription	Dnd41	blood
26	chr15:56207600-56209000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:56207600-56209200	Active TSS	Right Atrium	heart
28	chr15:56207600-56210000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:56207600-56210200	Flanking Active TSS	Osteobl	bone
30	chr15:56207600-56221200	Weak transcription	Right Ventricle	heart
31	chr15:56207800-56208800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr15:56207800-56208800	Strong transcription	Liver	Liver
33	chr15:56207800-56208800	Transcr. at gene 5' and 3'	NHEK	skin
34	chr15:56207800-56209000	Strong transcription	Primary T cells from cord blood	blood
35	chr15:56207800-56210600	Enhancers	HMEC	breast
36	chr15:56208000-56209600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr15:56208200-56210400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:56208400-56208600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:56208400-56208600	Enhancers	Esophagus	oesophagus
40	chr15:56208400-56208800	Flanking Active TSS	HSMM	muscle
41	chr15:56208400-56208800	Flanking Active TSS	HSMMtube	muscle
42	chr15:56208400-56209000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr15:56208400-56209000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:56208400-56209000	Enhancers	Ovary	ovary
45	chr15:56208400-56209000	Active TSS	A549	lung
46	chr15:56208400-56209000	Flanking Active TSS	NHLF	lung
47	chr15:56208400-56209200	Active TSS	Brain Substantia Nigra	brain
48	chr15:56208400-56209200	Weak transcription	Fetal Kidney	kidney
49	chr15:56208400-56209400	Active TSS	Brain Anterior Caudate	brain
50	chr15:56208400-56209400	Flanking Active TSS	NHDF-Ad	bronchial

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