Variant report

Variant	nsv981478
Chromosome Location	chr7:56514158-56527700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:977)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:56522421-56522511	Fibrobl	skin:	n/a	n/a
2	CUX1	chr7:56514939-56515002	GM12878	blood:	n/a	n/a
3	NFYB	chr7:56515982-56516325	K562	blood:	n/a	chr7:56516167-56516181 chr7:56516166-56516181 chr7:56516169-56516179 chr7:56516166-56516181 chr7:56516140-56516153 chr7:56516170-56516182 chr7:56516168-56516181 chr7:56516169-56516179
4	POLR2A	chr7:56516301-56516366	Gliobla	brain:	n/a	n/a
5	POLR2A	chr7:56516254-56516266	Gliobla	brain:	n/a	n/a
6	RAD21	chr7:56515057-56515063	A549	lung:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56517941-56517991	SAEC	small airway:	n/a
2	chr7:56517941-56517991	SAEC	small airway:	n/a
3	chr7:56516255-56516305	NHDF-neo	bronchial:	n/a
4	chr7:56516076-56516126	HAEpiC	amniotic membrane:	n/a
5	chr7:56516243-56516293	MCF10A-Er-Src	breast:	n/a
6	chr7:56515510-56515560	SKMC	muscle:	n/a
7	chr7:56515510-56515560	U87	brain:	n/a
8	chr7:56515601-56515651	Jurkat	blood:	n/a
9	chr7:56516255-56516305	AG04450	lung:	fetal
10	chr7:56515752-56515802	CMK	blood:	n/a
11	chr7:56515752-56515802	GM06990	blood:	n/a
12	chr7:56516243-56516293	IMR90	lung:	fetal
13	chr7:56516504-56516554	U87	brain:	n/a
14	chr7:56516117-56516167	HMEC	breast:	n/a
15	chr7:56515510-56515560	GM19239	blood:	n/a
16	chr7:56516309-56516359	HRE	kidney:	n/a
17	chr7:56516425-56516475	SAEC	small airway:	n/a
18	chr7:56516243-56516293	ProgFib	skin:	n/a
19	chr7:56515510-56515560	NT2-D1	testis:	n/a
20	chr7:56516076-56516126	AG04450	lung:	fetal
21	chr7:56515752-56515802	AG09319	gingival:	n/a
22	chr7:56517941-56517991	HEK293	kidney:	embryo
23	chr7:56515510-56515560	T-47D	breast:	n/a
24	chr7:56515846-56515896	H1-hESC	embryonic stem cell:	embryo
25	chr7:56516243-56516293	HepG2	liver:	n/a
26	chr7:56516504-56516554	H1-hESC	embryonic stem cell:	embryo
27	chr7:56515601-56515651	A549	lung:	n/a
28	chr7:56516255-56516305	CMK	blood:	n/a
29	chr7:56514965-56515015	HRCEpiC	kidney:	n/a
30	chr7:56515752-56515802	SAEC	small airway:	n/a
31	chr7:56516076-56516126	NHDF-neo	bronchial:	n/a
32	chr7:56516248-56516298	Hela-S3	cervix:	n/a
33	chr7:56516129-56516179	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:56515510-56515560	HepG2	liver:	n/a
35	chr7:56515601-56515651	HCF	heart:	n/a
36	chr7:56516076-56516126	HIPEpiC	eye:	n/a
37	chr7:56516425-56516475	GM12878	blood:	n/a
38	chr7:56516117-56516167	HepG2	liver:	n/a
39	chr7:56514965-56515015	ProgFib	skin:	n/a
40	chr7:56516504-56516554	AoSMC	blood vessel:	n/a
41	chr7:56515601-56515651	MCF-7	breast:	n/a
42	chr7:56515752-56515802	NT2-D1	testis:	n/a
43	chr7:56516076-56516126	HRE	kidney:	n/a
44	chr7:56517941-56517991	HUVEC	blood vessel:	n/a
45	chr7:56515601-56515651	HRCEpiC	kidney:	n/a
46	chr7:56517941-56517991	NB4	blood:	n/a
47	chr7:56516129-56516179	Hela-S3	cervix:	n/a
48	chr7:56516425-56516475	LNCaP	prostate:	n/a
49	chr7:56515601-56515651	HCT-116	colon:	n/a
50	chr7:56516248-56516298	HCM	heart:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP4-725G10.1.1-8	chr7:56515912-56516068	NONHSAT147555
2	lnc-RP4-725G10.1.1-8	chr7:56515912-56516068	NR_029420

No data

Variant related genes	Relation type
ENSG00000237268	TF binding region
ENSG00000237268	CpG island

Extended variants
information (count: 383 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544616917	chr7:56515208-56515209	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184616178	chr7:56515246-56515247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528971520	chr7:56515302-56515303	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12534564	chr7:56515306-56515307	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs68157893	chr7:56515362-56515363	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565339778	chr7:56515393-56515394	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs13228829	chr7:56515398-56515399	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539011659	chr7:56515399-56515400	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs13228831	chr7:56515400-56515401	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558050466	chr7:56515411-56515412	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145881902	chr7:56515418-56515419	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537684002	chr7:56515419-56515420	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188690704	chr7:56515426-56515427	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574123240	chr7:56515515-56515516	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs13242231	chr7:56515623-56515624	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541166977	chr7:56515637-56515638	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553460837	chr7:56515650-56515651	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs13244951	chr7:56515654-56515655	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs13244954	chr7:56515662-56515663	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs578083493	chr7:56515676-56515677	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545396154	chr7:56515785-56515786	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564403486	chr7:56515794-56515795	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191962084	chr7:56515800-56515801	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543644561	chr7:56515803-56515804	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561731843	chr7:56515817-56515818	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529038724	chr7:56515834-56515835	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115911119	chr7:56515852-56515853	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368021849	chr7:56515855-56515856	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532792149	chr7:56515886-56515887	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149003202	chr7:56515890-56515891	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534426225	chr7:56515986-56515987	ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537339528	chr7:56515996-56515997	ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs549605277	chr7:56516026-56516027	ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs559183924	chr7:56516034-56516035	ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs567769962	chr7:56516039-56516040	ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs62460151	chr7:56516052-56516053	ZNF genes & repeats Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372501110	chr7:56516066-56516067	ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs117075165	chr7:56516067-56516068	ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs539072017	chr7:56516075-56516076	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs377055883	chr7:56516095-56516096	ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs116305432	chr7:56516097-56516098	ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs370096417	chr7:56516158-56516159	ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs543355945	chr7:56516220-56516221	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561977305	chr7:56516223-56516224	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573775021	chr7:56516242-56516243	ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540805608	chr7:56516245-56516246	ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs115360305	chr7:56516254-56516255	ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs543704014	chr7:56516255-56516256	ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs551006742	chr7:56516281-56516282	ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs146967779	chr7:56516283-56516284	ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56515200-56516400	Active TSS	Ovary	ovary
2	chr7:56515400-56516200	ZNF genes & repeats	Aorta	Aorta
3	chr7:56515400-56516400	ZNF genes & repeats	Placenta	Placenta
4	chr7:56515600-56516200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:56515600-56516200	ZNF genes & repeats	Brain Hippocampus Middle	brain
6	chr7:56515600-56516200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
7	chr7:56515600-56516400	ZNF genes & repeats	Brain Anterior Caudate	brain
8	chr7:56515600-56516400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
9	chr7:56515600-56516400	ZNF genes & repeats	Gastric	stomach
10	chr7:56515600-56516400	ZNF genes & repeats	Pancreas	Pancrea
11	chr7:56515600-56516600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr7:56515600-56516600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
13	chr7:56515600-56516600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:56515600-56517600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr7:56515600-56519000	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr7:56515800-56516000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
17	chr7:56516000-56516200	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr7:56516000-56516400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr7:56516000-56516400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
20	chr7:56516400-56518600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:56521400-56524200	ZNF genes & repeats	Liver	Liver
22	chr7:56522000-56522400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr7:56522000-56525600	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr7:56526600-56527600	ZNF genes & repeats	Liver	Liver
25	chr7:56526800-56527400	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr7:56527000-56544400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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