Variant report

Variant	nsv869966
Chromosome Location	chr7:16279782-16307959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 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	chr7:16302411-16302607	K562	blood:	n/a	n/a
2	ARID3A	chr7:16300636-16301991	K562	blood:	n/a	n/a
3	ARID3A	chr7:16299684-16300431	K562	blood:	n/a	n/a
4	ARID3A	chr7:16307063-16308041	K562	blood:	n/a	n/a
5	ARID3A	chr7:16304739-16305925	K562	blood:	n/a	n/a
6	ARID3A	chr7:16299083-16299409	K562	blood:	n/a	n/a
7	ATF1	chr7:16300049-16300351	K562	blood:	n/a	n/a
8	ATF1	chr7:16304760-16305221	K562	blood:	n/a	n/a
9	ATF1	chr7:16301437-16301703	K562	blood:	n/a	n/a
10	BCLAF1	chr7:16301267-16301844	K562	blood:	n/a	n/a
11	BCLAF1	chr7:16305341-16306186	K562	blood:	n/a	n/a
12	BHLHE40	chr7:16303074-16303109	K562	blood:	n/a	n/a
13	BHLHE40	chr7:16304830-16305615	K562	blood:	n/a	n/a
14	BHLHE40	chr7:16297424-16297442	K562	blood:	n/a	n/a
15	BHLHE40	chr7:16306312-16306532	K562	blood:	n/a	n/a
16	CBX3	chr7:16295561-16295958	K562	blood:	n/a	n/a
17	CCNT2	chr7:16301397-16301732	K562	blood:	n/a	n/a
18	CCNT2	chr7:16299875-16300334	K562	blood:	n/a	n/a
19	CCNT2	chr7:16304676-16305206	K562	blood:	n/a	n/a
20	CEBPB	chr7:16285457-16285721	HepG2	liver:	n/a	chr7:16285552-16285563
21	CEBPB	chr7:16304910-16305502	K562	blood:	n/a	n/a
22	CEBPB	chr7:16304794-16305678	K562	blood:	n/a	n/a
23	CEBPB	chr7:16299062-16299191	K562	blood:	n/a	n/a
24	CEBPB	chr7:16279656-16279856	HepG2	liver:	n/a	chr7:16279790-16279801
25	CEBPB	chr7:16305889-16305921	K562	blood:	n/a	n/a
26	CEBPB	chr7:16299779-16300445	K562	blood:	n/a	n/a
27	CEBPB	chr7:16304474-16304690	K562	blood:	n/a	n/a
28	CEBPB	chr7:16301287-16301995	K562	blood:	n/a	n/a
29	CEBPD	chr7:16304751-16305266	K562	blood:	n/a	n/a
30	CEBPD	chr7:16301307-16301769	K562	blood:	n/a	n/a
31	CEBPD	chr7:16299664-16300486	K562	blood:	n/a	n/a
32	CREB1	chr7:16300844-16301818	K562	blood:	n/a	n/a
33	CREB1	chr7:16304800-16305850	K562	blood:	n/a	n/a
34	CTCF	chr7:16305776-16305871	K562	blood:	n/a	n/a
35	CTCF	chr7:16285781-16285808	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr7:16302433-16302466	Lung_OC	lung:	n/a	n/a
37	CTCF	chr7:16287359-16287448	K562	blood:	n/a	n/a
38	CTCF	chr7:16307672-16307768	K562	blood:	n/a	n/a
39	CTCF	chr7:16296426-16296463	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr7:16286379-16286500	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr7:16299774-16300133	K562	blood:	n/a	n/a
42	CTCF	chr7:16304877-16305339	K562	blood:	n/a	n/a
43	CUX1	chr7:16300772-16302072	K562	blood:	n/a	n/a
44	CUX1	chr7:16307686-16307886	K562	blood:	n/a	n/a
45	CUX1	chr7:16299668-16300390	K562	blood:	n/a	n/a
46	CUX1	chr7:16304893-16305672	K562	blood:	n/a	n/a
47	EGR1	chr7:16302979-16303182	K562	blood:	n/a	n/a
48	EP300	chr7:16300752-16301080	GM12878	blood:	n/a	chr7:16300941-16300955
49	EP300	chr7:16303669-16304244	K562	blood:	n/a	chr7:16304068-16304078
50	EP300	chr7:16302460-16302660	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:16307417..16309237-chr7:16685352..16687215,2	K562	blood:
2	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:
3	chr7:16307891..16309646-chr7:16460887..16462647,2	K562	blood:
4	chr7:16274806..16276431-chr7:16298235..16300903,2	K562	blood:
5	chr7:16301478..16303849-chr7:16518183..16519712,2	K562	blood:
6	chr7:16301506..16303412-chr7:20253971..20256529,2	K562	blood:
7	chr7:16302626..16306339-chr7:16456665..16460333,5	K562	blood:
8	chr7:16304973..16307091-chr7:16435445..16437043,2	K562	blood:
9	chr7:16297813..16300771-chr7:16597599..16599779,2	K562	blood:
10	chr7:16303209..16307181-chr7:16682528..16687363,4	K562	blood:
11	chr7:16165242..16168046-chr7:16300329..16302056,2	K562	blood:
12	chr7:16300347..16301994-chr7:16462021..16464400,2	K562	blood:
13	chr7:16277063..16278861-chr7:16280781..16282424,2	K562	blood:
14	chr7:16302428..16304569-chr7:16686662..16689057,2	K562	blood:
15	chr7:16301403..16303759-chr7:16503630..16506930,3	K562	blood:
16	chr7:16285409..16288180-chr7:16295653..16298089,2	K562	blood:
17	chr7:16285409..16288180-chr7:16295653..16298089,2	K562	blood:
18	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
19	chr7:16307737..16311020-chr7:16684818..16687152,3	K562	blood:
20	chr7:12753228..12755385-chr7:16301600..16303385,2	K562	blood:
21	chr7:16272248..16274869-chr7:16305157..16307096,2	K562	blood:
22	chr7:16221967..16224628-chr7:16306153..16308389,2	K562	blood:
23	chr7:16277063..16278675-chr7:16280781..16282945,2	K562	blood:
24	chr7:16271772..16276074-chr7:16279630..16282231,4	K562	blood:
25	chr7:16272248..16275452-chr7:16305157..16308165,4	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119292
2	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119293
3	lnc-AC006035.2-1	chr7:16305852-16305936	ENSG00000229688
4	lnc-AC006035.2-1	chr7:16305852-16305936	ENSG00000229688
5	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119294
6	lnc-AC006035.2-1	chr7:16301524-16301721	ENSG00000229688
7	lnc-AC006035.2-1	chr7:16287510-16287714	ENSG00000229688.3
8	lnc-AC006035.2-1	chr7:16301527-16301721	NONHSAT119294
9	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119295
10	lnc-AC006035.2-1	chr7:16288360-16288362	NONHSAT119294
11	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119296
12	lnc-AC006035.2-1	chr7:16301524-16301721	NONHSAT119293

No data

Variant related genes	Relation type
ISPD-AS1	TF binding region
ENSG00000136261	chromatin interactions
ENSG00000171243	chromatin interactions
ENSG00000214960	chromatin interactions
ENSG00000106524	chromatin interactions
RSRC2	miRNA target sites
GLTP	miRNA target sites
SEC63	miRNA target sites

Extended variants
information (count: 1236 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528514469	chr7:16279853-16279854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540567728	chr7:16279854-16279855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562081990	chr7:16279877-16279878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559679278	chr7:16279933-16279934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529548952	chr7:16279964-16279965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186420142	chr7:16279980-16279981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569128652	chr7:16280023-16280024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80024336	chr7:16280063-16280064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542055257	chr7:16280076-16280077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552285414	chr7:16280125-16280126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191206470	chr7:16280134-16280135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534664202	chr7:16280167-16280168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528811971	chr7:16280183-16280184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200224922	chr7:16280197-16280198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369554420	chr7:16280198-16280199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71549978	chr7:16280200-16280201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57051578	chr7:16280226-16280227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72321598	chr7:16280227-16280228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137990067	chr7:16280240-16280241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568321051	chr7:16280345-16280346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535753165	chr7:16280355-16280356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78989287	chr7:16280359-16280360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551761074	chr7:16280408-16280409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575542873	chr7:16280411-16280412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371988875	chr7:16280441-16280442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17169365	chr7:16280512-16280513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369379095	chr7:16280579-16280580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573143150	chr7:16280669-16280670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540578116	chr7:16280678-16280679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200203813	chr7:16280689-16280690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115432940	chr7:16280788-16280789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529515302	chr7:16280810-16280811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559155194	chr7:16280824-16280825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371818495	chr7:16280831-16280832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1527208	chr7:16280843-16280844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375224548	chr7:16280864-16280865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182126289	chr7:16280898-16280899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185913923	chr7:16280944-16280945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551985370	chr7:16280945-16280946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375823389	chr7:16280997-16280998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564246889	chr7:16281045-16281046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1527209	chr7:16281087-16281088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190836142	chr7:16281116-16281117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183154040	chr7:16281125-16281126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141792400	chr7:16281213-16281214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115000084	chr7:16281248-16281249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569069858	chr7:16281260-16281261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539660322	chr7:16281286-16281287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376898282	chr7:16281299-16281300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569284276	chr7:16281331-16281332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16275000-16304400	Weak transcription	Fetal Lung	lung
2	chr7:16280200-16289400	Weak transcription	Left Ventricle	heart
3	chr7:16284800-16287600	Weak transcription	Ovary	ovary
4	chr7:16286200-16287600	Enhancers	Brain Substantia Nigra	brain
5	chr7:16286400-16288600	Weak transcription	Fetal Stomach	stomach
6	chr7:16286600-16287000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:16286600-16287200	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:16286800-16287400	Enhancers	Brain Hippocampus Middle	brain
9	chr7:16286800-16295800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:16287600-16287800	ZNF genes & repeats	Ovary	ovary
11	chr7:16287800-16288000	Weak transcription	Ovary	ovary
12	chr7:16287800-16289200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:16288000-16291800	Weak transcription	Gastric	stomach
14	chr7:16288600-16289200	ZNF genes & repeats	Fetal Stomach	stomach
15	chr7:16289200-16296600	Weak transcription	Fetal Stomach	stomach
16	chr7:16291200-16293800	Weak transcription	Fetal Kidney	kidney
17	chr7:16295600-16296600	Weak transcription	K562	blood
18	chr7:16295800-16296000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
19	chr7:16296200-16299600	Weak transcription	Fetal Heart	heart
20	chr7:16296600-16296800	Enhancers	Fetal Stomach	stomach
21	chr7:16296600-16297000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:16296600-16298000	Genic enhancers	K562	blood
23	chr7:16296800-16297400	Weak transcription	Fetal Stomach	stomach
24	chr7:16297000-16299000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:16297400-16297600	Enhancers	Fetal Stomach	stomach
26	chr7:16297600-16297800	Weak transcription	Fetal Stomach	stomach
27	chr7:16298000-16298600	Weak transcription	K562	blood
28	chr7:16298600-16300000	Enhancers	K562	blood
29	chr7:16299600-16300200	Enhancers	Fetal Heart	heart
30	chr7:16299800-16300200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:16299800-16301200	Enhancers	Primary T cells from cord blood	blood
32	chr7:16300000-16300200	Flanking Active TSS	K562	blood
33	chr7:16300000-16300400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:16300000-16300400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:16300200-16300600	Enhancers	K562	blood
36	chr7:16300200-16308400	Weak transcription	Fetal Heart	heart
37	chr7:16300600-16300800	Active TSS	K562	blood
38	chr7:16300800-16301000	Flanking Active TSS	K562	blood
39	chr7:16301000-16301200	Active TSS	K562	blood
40	chr7:16301200-16301400	Flanking Active TSS	K562	blood
41	chr7:16301400-16304200	Active TSS	K562	blood
42	chr7:16303600-16305200	Enhancers	Liver	Liver
43	chr7:16304200-16307200	Transcr. at gene 5' and 3'	K562	blood
44	chr7:16304400-16305200	Enhancers	Fetal Lung	lung
45	chr7:16305200-16313200	Weak transcription	Fetal Lung	lung
46	chr7:16305600-16312800	Weak transcription	Gastric	stomach
47	chr7:16307000-16311600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:16307200-16309000	Active TSS	K562	blood
49	chr7:16307200-16311400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:16307200-16312800	Weak transcription	Ovary	ovary

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