Variant report

Variant	nsv966841
Chromosome Location	chr7:67545320-67568295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:67554081-67554133	K562	blood:	n/a	n/a
2	CEBPB	chr7:67567941-67568001	HepG2	liver:	n/a	chr7:67567983-67567994
3	CTCF	chr7:67561255-67561350	GM10248	blood:	n/a	n/a
4	ELF1	chr7:67547701-67548020	GM12878	blood:	n/a	n/a
5	FOXA2	chr7:67560227-67560564	A549	lung:	n/a	n/a
6	GATA2	chr7:67552553-67552849	SH-SY5Y	brain:	n/a	n/a
7	HEY1	chr7:67554655-67554810	HepG2	liver:	n/a	n/a
8	JUND	chr7:67556843-67557043	HepG2	liver:	n/a	n/a
9	MAFF	chr7:67553970-67554248	K562	blood:	n/a	n/a
10	MAFK	chr7:67554005-67554205	K562	blood:	n/a	n/a
11	MYC	chr7:67560443-67560486	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFYB	chr7:67554663-67555035	K562	blood:	n/a	n/a
13	NR2F2	chr7:67548831-67549183	K562	blood:	n/a	n/a
14	NR2F2	chr7:67548825-67549222	K562	blood:	n/a	n/a
15	POLR2A	chr7:67558792-67558896	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:67560966-67561182	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:67554766-67554770	K562	blood:	n/a	n/a
18	POLR2A	chr7:67554747-67554760	K562	blood:	n/a	n/a
19	SP1	chr7:67554746-67555037	HepG2	liver:	n/a	n/a
20	SPI1	chr7:67567106-67567540	HL-60	blood:	n/a	chr7:67567316-67567329 chr7:67567312-67567319 chr7:67567310-67567323
21	STAT3	chr7:67565923-67566123	MCF10A-Er-Src	breast:	n/a	n/a
22	ZNF263	chr7:67547883-67548279	HEK293-T-REx	kidney:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:67554611-67554661	HNPCEpiC	eye:	n/a
2	chr7:67554611-67554661	AG09309	skin:	n/a
3	chr7:67554611-67554661	SK-N-MC	brain:	n/a
4	chr7:67548326-67548376	ovcar-3	ovarian:	n/a
5	chr7:67548326-67548376	K562	blood:	n/a
6	chr7:67555703-67555753	PFSK-1	brain:	n/a
7	chr7:67555703-67555753	IMR90	lung:	fetal
8	chr7:67555703-67555753	GM12891	blood:	n/a
9	chr7:67555703-67555753	ECC-1	luminal epithelium:	n/a
10	chr7:67555703-67555753	SK-N-MC	brain:	n/a
11	chr7:67555703-67555753	HCF	heart:	n/a
12	chr7:67548326-67548376	GM12878	blood:	n/a
13	chr7:67555703-67555753	SKMC	muscle:	n/a
14	chr7:67554611-67554661	NH-A	brain:	n/a
15	chr7:67555703-67555753	U87	brain:	n/a
16	chr7:67548326-67548376	Jurkat	blood:	n/a
17	chr7:67554611-67554661	AoSMC	blood vessel:	n/a
18	chr7:67555703-67555753	HEEpiC	esophagus:	n/a
19	chr7:67554611-67554661	AG10803	skin:	n/a
20	chr7:67548326-67548376	HRCEpiC	kidney:	n/a
21	chr7:67554611-67554661	GM12891	blood:	n/a
22	chr7:67554611-67554661	Jurkat	blood:	n/a
23	chr7:67548326-67548376	HL-60	blood:	n/a
24	chr7:67555703-67555753	Caco-2	colon:	n/a
25	chr7:67548326-67548376	HPAEpiC	pulmonary alveolar:	n/a
26	chr7:67548326-67548376	NHBE	bronchial:	n/a
27	chr7:67554611-67554661	HepG2	liver:	n/a
28	chr7:67548326-67548376	PrEC	prostate:	n/a
29	chr7:67548326-67548376	NB4	blood:	n/a
30	chr7:67555703-67555753	PrEC	prostate:	n/a
31	chr7:67554611-67554661	GM06990	blood:	n/a
32	chr7:67548326-67548376	GM12891	blood:	n/a
33	chr7:67555703-67555753	RPTEC	kidney:	n/a
34	chr7:67554611-67554661	U87	brain:	n/a
35	chr7:67555703-67555753	AG04450	lung:	fetal
36	chr7:67555703-67555753	GM12892	blood:	n/a
37	chr7:67555703-67555753	BE2_C	brain:	n/a
38	chr7:67548326-67548376	H1-hESC	embryonic stem cell:	embryo
39	chr7:67548326-67548376	SK-N-MC	brain:	n/a
40	chr7:67555703-67555753	K562	blood:	n/a
41	chr7:67555703-67555753	AG09319	gingival:	n/a
42	chr7:67554611-67554661	AG04449	skin:	fetal
43	chr7:67554611-67554661	GM12892	blood:	n/a
44	chr7:67554611-67554661	HEEpiC	esophagus:	n/a
45	chr7:67555703-67555753	HAEpiC	amniotic membrane:	n/a
46	chr7:67548326-67548376	HCF	heart:	n/a
47	chr7:67555703-67555753	GM12878	blood:	n/a
48	chr7:67554611-67554661	AG04450	lung:	fetal
49	chr7:67555703-67555753	HEK293	kidney:	embryo
50	chr7:67554611-67554661	GM19239	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAG3L4-3	chr7:67556210-67556312	ENSG00000236531.2

No data

Variant related genes	Relation type
ENSG00000232975	TF binding region
ENSG00000236531	TF binding region
ENSG00000232975	CpG island
ENSG00000236531	CpG island

Extended variants
information (count: 440 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:440 , 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	rs556520973	chr7:67545341-67545342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563366697	chr7:67545345-67545346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573546230	chr7:67545355-67545356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541975757	chr7:67545402-67545403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555055176	chr7:67545422-67545423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150923778	chr7:67545436-67545437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36009371	chr7:67545454-67545455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139450662	chr7:67545481-67545482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563721807	chr7:67545489-67545490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149675178	chr7:67545502-67545503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147953882	chr7:67545504-67545505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563389244	chr7:67545554-67545555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141905710	chr7:67545571-67545572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549164341	chr7:67545574-67545575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35096572	chr7:67545633-67545634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547846158	chr7:67545645-67545646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116047160	chr7:67545662-67545663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539794224	chr7:67545725-67545726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556821889	chr7:67545752-67545753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560695099	chr7:67545761-67545762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570214342	chr7:67545765-67545766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188782808	chr7:67545770-67545771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575738018	chr7:67545783-67545784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544367821	chr7:67545796-67545797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114494502	chr7:67545797-67545798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145501799	chr7:67545816-67545817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528402617	chr7:67545847-67545848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563530534	chr7:67545848-67545849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557513068	chr7:67545872-67545873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147721167	chr7:67545904-67545905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs34176054	chr7:67545959-67545960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575531234	chr7:67547603-67547604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544717825	chr7:67547610-67547611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10270179	chr7:67547613-67547614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564445368	chr7:67547617-67547618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190312259	chr7:67547619-67547620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183048474	chr7:67547623-67547624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71601326	chr7:67547640-67547641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542703058	chr7:67547650-67547651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs35247802	chr7:67547674-67547675	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192063284	chr7:67547690-67547691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs564558412	chr7:67547691-67547692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573159621	chr7:67547695-67547696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545346731	chr7:67547700-67547701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376556564	chr7:67547701-67547702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575867879	chr7:67547709-67547710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113106076	chr7:67547717-67547718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs3094825	chr7:67547719-67547720	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35302883	chr7:67547722-67547723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs529859422	chr7:67547728-67547729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:67545200-67545800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:67545800-67546000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:67547600-67548600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:67549400-67549800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:67561200-67561400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:67566600-67567800	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:67566800-67568200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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