Variant report

Variant	nsv1024192
Chromosome Location	chr7:14825622-14850257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:14844718-14845080	HepG2	liver:	n/a	chr7:14844888-14844899
2	CEBPB	chr7:14844731-14845080	IMR90	lung:	n/a	chr7:14844888-14844899
3	CEBPB	chr7:14844794-14844983	K562	blood:	n/a	chr7:14844888-14844899
4	CEBPB	chr7:14844722-14844997	A549	lung:	n/a	chr7:14844888-14844899
5	CEBPB	chr7:14832873-14833082	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr7:14844768-14845056	H1-hESC	embryonic stem cell:	n/a	chr7:14844888-14844899
7	CTCF	chr7:14829554-14829560	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:14846765-14846809	LNCaP	prostate:	n/a	n/a
9	CTCF	chr7:14829420-14829570	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr7:14829420-14829570	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr7:14829400-14829550	AG09309	skin:	n/a	n/a
12	CTCF	chr7:14829340-14829490	HMF	breast:	n/a	n/a
13	CTCF	chr7:14829480-14829630	HPAF	blood vessel:	n/a	n/a
14	EBF1	chr7:14849416-14849566	GM12878	blood:	n/a	n/a
15	EP300	chr7:14846339-14846918	SK-N-SH	brain:	n/a	n/a
16	FOS	chr7:14842793-14842873	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr7:14833046-14833173	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr7:14846348-14846985	SK-N-SH	brain:	n/a	chr7:14846373-14846382
19	GATA3	chr7:14846352-14847713	SK-N-SH	brain:	n/a	chr7:14846373-14846382
20	IRF1	chr7:14830051-14830112	K562	blood:	n/a	n/a
21	JUN	chr7:14838900-14839098	HepG2	liver:	n/a	chr7:14839024-14839037
22	JUN	chr7:14847197-14847479	HepG2	liver:	n/a	chr7:14847331-14847344 chr7:14847335-14847344
23	JUND	chr7:14847187-14847491	H1-hESC	embryonic stem cell:	n/a	chr7:14847335-14847344
24	JUND	chr7:14838886-14839146	HepG2	liver:	n/a	n/a
25	JUND	chr7:14847000-14847673	SK-N-SH	brain:	n/a	chr7:14847335-14847344
26	JUND	chr7:14847157-14847503	HepG2	liver:	n/a	chr7:14847335-14847344
27	JUND	chr7:14832829-14833109	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr7:14832241-14832324	HepG2	liver:	n/a	n/a
29	MAX	chr7:14834564-14834605	NB4	blood:	n/a	n/a
30	MAX	chr7:14834263-14834483	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr7:14846487-14846828	SK-N-SH	brain:	n/a	n/a
32	MAZ	chr7:14832551-14832555	HepG2	liver:	n/a	n/a
33	MXI1	chr7:14828106-14828119	Hela-S3	cervix:	n/a	n/a
34	MYC	chr7:14833724-14833795	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr7:14848147-14848244	H1-hESC	embryonic stem cell:	n/a	n/a
36	NFIC	chr7:14846327-14846984	SK-N-SH	brain:	n/a	n/a
37	PBX3	chr7:14846348-14846970	SK-N-SH	brain:	n/a	n/a
38	PBX3	chr7:14846402-14846975	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr7:14831732-14831751	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr7:14847205-14847369	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr7:14826120-14826131	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:14829360-14829529	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr7:14846002-14846025	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr7:14835421-14835475	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:14826150-14826289	MCF-7	breast:	n/a	n/a
46	POLR2A	chr7:14842575-14842616	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:14826190-14826394	A549	lung:	n/a	n/a
48	POLR2A	chr7:14846026-14846066	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr7:14826186-14826419	MCF-7	breast:	n/a	n/a
50	POLR2A	chr7:14827482-14827649	Gliobla	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:14834316-14834366	NHDF-neo	bronchial:	n/a
2	chr7:14834316-14834366	ovcar-3	ovarian:	n/a
3	chr7:14834316-14834366	AG09309	skin:	n/a
4	chr7:14834316-14834366	H1-hESC	embryonic stem cell:	embryo
5	chr7:14834316-14834366	GM06990	blood:	n/a
6	chr7:14834316-14834366	NB4	blood:	n/a
7	chr7:14834316-14834366	PFSK-1	brain:	n/a
8	chr7:14834316-14834366	HCT-116	colon:	n/a
9	chr7:14834316-14834366	Caco-2	colon:	n/a
10	chr7:14834316-14834366	HRCEpiC	kidney:	n/a
11	chr7:14834316-14834366	HEEpiC	esophagus:	n/a
12	chr7:14834316-14834366	AG09319	gingival:	n/a
13	chr7:14834316-14834366	NH-A	brain:	n/a
14	chr7:14834316-14834366	BE2_C	brain:	n/a
15	chr7:14834316-14834366	HMEC	breast:	n/a
16	chr7:14834316-14834366	RPTEC	kidney:	n/a
17	chr7:14834316-14834366	U87	brain:	n/a
18	chr7:14834316-14834366	GM19239	blood:	n/a
19	chr7:14834316-14834366	GM12892	blood:	n/a
20	chr7:14834316-14834366	HUVEC	blood vessel:	n/a
21	chr7:14834316-14834366	HL-60	blood:	n/a
22	chr7:14834316-14834366	SK-N-SH_RA	brain:	n/a
23	chr7:14834316-14834366	AG04450	lung:	fetal
24	chr7:14834316-14834366	SK-N-SH	brain:	n/a
25	chr7:14834316-14834366	Hepatocyte	liver:	n/a
26	chr7:14834316-14834366	HAEpiC	amniotic membrane:	n/a
27	chr7:14834316-14834366	HRE	kidney:	n/a
28	chr7:14834316-14834366	LNCaP	prostate:	n/a
29	chr7:14834316-14834366	IMR90	lung:	fetal
30	chr7:14834316-14834366	GM12891	blood:	n/a
31	chr7:14834316-14834366	HRPEpiC	eye:	n/a
32	chr7:14834316-14834366	MCF-7	breast:	n/a
33	chr7:14834316-14834366	K562	blood:	n/a
34	chr7:14834316-14834366	HCF	heart:	n/a
35	chr7:14834316-14834366	HCM	heart:	n/a
36	chr7:14834316-14834366	Hela-S3	cervix:	n/a
37	chr7:14834316-14834366	A549	lung:	n/a
38	chr7:14834316-14834366	SKMC	muscle:	n/a
39	chr7:14834316-14834366	Jurkat	blood:	n/a
40	chr7:14834316-14834366	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:14834316-14834366	GM12878	blood:	n/a
42	chr7:14834316-14834366	AoSMC	blood vessel:	n/a
43	chr7:14834316-14834366	PANC-1	pancreas:	n/a
44	chr7:14834316-14834366	HepG2	liver:	n/a
45	chr7:14834316-14834366	SAEC	small airway:	n/a
46	chr7:14834316-14834366	AG10803	skin:	n/a
47	chr7:14834316-14834366	BJ	skin:	n/a
48	chr7:14834316-14834366	CMK	blood:	n/a
49	chr7:14834316-14834366	HCPEpiC	choroid plexus:	n/a
50	chr7:14834316-14834366	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:46171433..46173080-chr7:14824864..14826364,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226323	TF binding region
ENSG00000226323	CpG island
ENSG00000010310	chromatin interactions

Extended variants
information (count: 442 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182520013	chr7:14825649-14825650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540252242	chr7:14825654-14825655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368330905	chr7:14825671-14825672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528750431	chr7:14825673-14825674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555355281	chr7:14825682-14825683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565433009	chr7:14825689-14825690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547325709	chr7:14825702-14825703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531176530	chr7:14825728-14825729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551078753	chr7:14825762-14825763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367551082	chr7:14825764-14825765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146752986	chr7:14825765-14825766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570407304	chr7:14825806-14825807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567775226	chr7:14825807-14825808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374350428	chr7:14825835-14825836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114384795	chr7:14825839-14825840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372305262	chr7:14825852-14825853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs17168430	chr7:14825879-14825880	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566759360	chr7:14825892-14825893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145515263	chr7:14825894-14825895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558466394	chr7:14825898-14825899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575083545	chr7:14825938-14825939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190040364	chr7:14826078-14826079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77628204	chr7:14826083-14826084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs193222976	chr7:14826097-14826098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534034886	chr7:14826105-14826106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574448171	chr7:14826142-14826143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79466522	chr7:14826162-14826163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146521011	chr7:14826167-14826168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114387201	chr7:14826183-14826184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111726072	chr7:14826223-14826224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531103831	chr7:14826243-14826244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374593818	chr7:14826248-14826249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373834629	chr7:14826254-14826255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2098146	chr7:14826269-14826270	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569796169	chr7:14826290-14826291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530167552	chr7:14826297-14826298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546779685	chr7:14826333-14826334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56905045	chr7:14832437-14832438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538537642	chr7:14832444-14832445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571322270	chr7:14832460-14832461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542725672	chr7:14832462-14832463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574735680	chr7:14832483-14832484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57054093	chr7:14832504-14832505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545176764	chr7:14832526-14832527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576806274	chr7:14832559-14832560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139572311	chr7:14832563-14832564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544054723	chr7:14832628-14832629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111783854	chr7:14832652-14832653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531466381	chr7:14832667-14832668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548469415	chr7:14832669-14832670	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14832400-14835200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:14832600-14833800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:14832600-14834600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:14832600-14834800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:14832800-14835200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:14833000-14833800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:14833000-14834000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:14833000-14834400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:14833000-14835200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:14833800-14834400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:14834000-14834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:14834400-14834600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:14834400-14834600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:14834600-14836000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:14840000-14840600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr7:14840400-14841000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:14840600-14841200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:14844600-14844800	Enhancers	Liver	Liver
19	chr7:14844800-14845000	Flanking Active TSS	Liver	Liver
20	chr7:14845000-14845200	Active TSS	Liver	Liver
21	chr7:14846200-14847400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:14846200-14847400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:14846400-14847400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:14846400-14847600	Enhancers	Osteobl	bone
25	chr7:14847400-14861400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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