Variant report

Variant	nsv945590
Chromosome Location	chr1:120384193-120387925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120386952-120387123	K562	blood:	n/a	n/a
2	BATF	chr1:120386771-120387113	GM12878	blood:	n/a	n/a
3	BATF	chr1:120386780-120387005	GM12878	blood:	n/a	n/a
4	BCL11A	chr1:120387330-120387656	GM12878	blood:	n/a	n/a
5	BHLHE40	chr1:120387086-120387158	K562	blood:	n/a	n/a
6	BHLHE40	chr1:120385809-120385829	K562	blood:	n/a	n/a
7	BHLHE40	chr1:120386765-120387007	HepG2	liver:	n/a	n/a
8	CTCF	chr1:120386960-120387110	GM12875	blood:	n/a	n/a
9	CTCF	chr1:120386924-120387095	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr1:120386920-120387070	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr1:120386907-120387057	GM20000	blood:	n/a	n/a
12	CTCF	chr1:120387000-120387150	HCFaa	heart:	n/a	n/a
13	CTCF	chr1:120386910-120387054	GM10248	blood:	n/a	n/a
14	CTCF	chr1:120386933-120387154	Medullo	brain:	n/a	n/a
15	CTCF	chr1:120386838-120387335	K562	blood:	n/a	n/a
16	CTCF	chr1:120386841-120387142	K562	blood:	n/a	n/a
17	CTCF	chr1:120386940-120387090	GM12871	blood:	n/a	n/a
18	CTCF	chr1:120386960-120387110	GM12874	blood:	n/a	n/a
19	CTCF	chr1:120386960-120387110	AG10803	skin:	n/a	n/a
20	CTCF	chr1:120386929-120387118	Fibrobl	skin:	n/a	n/a
21	CTCF	chr1:120386940-120387090	HRE	kidney:	n/a	n/a
22	CTCF	chr1:120386940-120387090	AG09319	gingival:	n/a	n/a
23	CTCF	chr1:120387060-120387210	NHLF	lung:	n/a	n/a
24	CTCF	chr1:120386940-120387090	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr1:120386960-120387110	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr1:120386980-120387130	AG10803	skin:	n/a	n/a
27	CTCF	chr1:120386700-120386850	HVMF	connective:	n/a	n/a
28	CTCF	chr1:120387000-120387150	GM12872	blood:	n/a	n/a
29	CTCF	chr1:120386960-120387110	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr1:120386913-120387012	GM13976	blood:	n/a	n/a
31	CTCF	chr1:120387060-120387210	HFF	foreskin:	n/a	n/a
32	CTCF	chr1:120386900-120387050	NB4	blood:	n/a	n/a
33	CTCF	chr1:120386798-120387209	A549	lung:	n/a	n/a
34	CTCF	chr1:120386660-120386810	HAc	cerebellar:	n/a	n/a
35	CTCF	chr1:120386920-120387070	GM12864	blood:	n/a	n/a
36	CTCF	chr1:120386931-120387072	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr1:120386960-120387110	HEK293	kidney:	n/a	n/a
38	CTCF	chr1:120386940-120387090	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr1:120386882-120387173	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:120387003-120387093	GM12892	blood:	n/a	n/a
41	CTCF	chr1:120386880-120387030	AG04450	lung:	n/a	n/a
42	CTCF	chr1:120386960-120387110	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr1:120386680-120386830	HCFaa	heart:	n/a	n/a
44	CTCF	chr1:120386100-120386250	HFF	foreskin:	n/a	n/a
45	CTCF	chr1:120386960-120387110	BJ	skin:	n/a	n/a
46	CTCF	chr1:120386940-120387090	BJ	skin:	n/a	n/a
47	CTCF	chr1:120387039-120387048	A549	lung:	n/a	n/a
48	CTCF	chr1:120387000-120387150	GM06990	blood:	n/a	n/a
49	CTCF	chr1:120386910-120387061	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr1:120387040-120387190	GM12864	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120387299-120387349	Hepatocyte	liver:	n/a
2	chr1:120387299-120387349	ProgFib	skin:	n/a
3	chr1:120387299-120387349	NT2-D1	testis:	n/a
4	chr1:120387083-120387133	AG09319	gingival:	n/a
5	chr1:120387299-120387349	BE2_C	brain:	n/a
6	chr1:120387083-120387133	HAEpiC	amniotic membrane:	n/a
7	chr1:120387083-120387133	GM19239	blood:	n/a
8	chr1:120387299-120387349	SK-N-SH_RA	brain:	n/a
9	chr1:120387083-120387133	HRCEpiC	kidney:	n/a
10	chr1:120387299-120387349	HEK293	kidney:	embryo
11	chr1:120387299-120387349	AG09309	skin:	n/a
12	chr1:120387083-120387133	AG04449	skin:	fetal
13	chr1:120387299-120387349	HRCEpiC	kidney:	n/a
14	chr1:120387299-120387349	A549	lung:	n/a
15	chr1:120387083-120387133	H1-hESC	embryonic stem cell:	embryo
16	chr1:120387299-120387349	HEEpiC	esophagus:	n/a
17	chr1:120387083-120387133	HCPEpiC	choroid plexus:	n/a
18	chr1:120387299-120387349	GM06990	blood:	n/a
19	chr1:120387083-120387133	HNPCEpiC	eye:	n/a
20	chr1:120387083-120387133	MCF-7	breast:	n/a
21	chr1:120387299-120387349	GM12891	blood:	n/a
22	chr1:120387083-120387133	NHBE	bronchial:	n/a
23	chr1:120387083-120387133	ProgFib	skin:	n/a
24	chr1:120387083-120387133	HEEpiC	esophagus:	n/a
25	chr1:120387083-120387133	HEK293	kidney:	embryo
26	chr1:120387299-120387349	SK-N-MC	brain:	n/a
27	chr1:120387083-120387133	GM12892	blood:	n/a
28	chr1:120387299-120387349	HMEC	breast:	n/a
29	chr1:120387299-120387349	HIPEpiC	eye:	n/a
30	chr1:120387299-120387349	AG09319	gingival:	n/a
31	chr1:120387299-120387349	HNPCEpiC	eye:	n/a
32	chr1:120387083-120387133	PrEC	prostate:	n/a
33	chr1:120387299-120387349	HepG2	liver:	n/a
34	chr1:120387083-120387133	AG09309	skin:	n/a
35	chr1:120387083-120387133	LNCaP	prostate:	n/a
36	chr1:120387299-120387349	NB4	blood:	n/a
37	chr1:120387083-120387133	CMK	blood:	n/a
38	chr1:120387083-120387133	HUVEC	blood vessel:	n/a
39	chr1:120387083-120387133	HCT-116	colon:	n/a
40	chr1:120387083-120387133	GM12891	blood:	n/a
41	chr1:120387299-120387349	HCF	heart:	n/a
42	chr1:120387299-120387349	NHDF-neo	bronchial:	n/a
43	chr1:120387083-120387133	ovcar-3	ovarian:	n/a
44	chr1:120387299-120387349	HL-60	blood:	n/a
45	chr1:120387083-120387133	NHDF-neo	bronchial:	n/a
46	chr1:120387083-120387133	U87	brain:	n/a
47	chr1:120387299-120387349	ovcar-3	ovarian:	n/a
48	chr1:120387299-120387349	AG04450	lung:	fetal
49	chr1:120387083-120387133	HepG2	liver:	n/a
50	chr1:120387299-120387349	AG04449	skin:	fetal

No data

Variant related genes	Relation type
NBPF7	TF binding region
NBPF7	CpG island

Extended variants
information (count: 190 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2994820	chr1:120384205-120384206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587713934	chr1:120384237-120384238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181227479	chr1:120384254-120384255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376298085	chr1:120384255-120384256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587751925	chr1:120384256-120384257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113190634	chr1:120384273-120384274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116562687	chr1:120384294-120384295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587737427	chr1:120384324-120384325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587608688	chr1:120384329-120384330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587702409	chr1:120384343-120384344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587754742	chr1:120384370-120384371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587632788	chr1:120384371-120384372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587691686	chr1:120384387-120384388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151338084	chr1:120384390-120384391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185722101	chr1:120384414-120384415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587715874	chr1:120384421-120384422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587755240	chr1:120384433-120384434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140592381	chr1:120384463-120384464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587720757	chr1:120384466-120384467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587596882	chr1:120384475-120384476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587694746	chr1:120384555-120384556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145830634	chr1:120384598-120384599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587623602	chr1:120384600-120384601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138426849	chr1:120384621-120384622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587734190	chr1:120384624-120384625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141334389	chr1:120384634-120384635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587674590	chr1:120384671-120384672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3009187	chr1:120384682-120384683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145352534	chr1:120384697-120384698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587687886	chr1:120384698-120384699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191962709	chr1:120384713-120384714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587620537	chr1:120384749-120384750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115975177	chr1:120384751-120384752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587758843	chr1:120384765-120384766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75707806	chr1:120384776-120384777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2994821	chr1:120384777-120384778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2994822	chr1:120384785-120384786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs181830259	chr1:120384812-120384813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187298706	chr1:120384813-120384814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587727535	chr1:120384835-120384836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6697106	chr1:120384840-120384841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587623381	chr1:120384841-120384842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587639004	chr1:120384857-120384858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192095738	chr1:120384875-120384876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182102867	chr1:120384880-120384881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587679930	chr1:120384928-120384929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186825060	chr1:120384929-120384930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587609609	chr1:120384958-120384959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587667200	chr1:120384981-120384982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587746814	chr1:120384990-120384991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120382800-120384400	Enhancers	K562	blood
2	chr1:120384400-120386800	Weak transcription	K562	blood
3	chr1:120387000-120387200	Enhancers	K562	blood

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