Variant report

Variant	nsv436564
Chromosome Location	chr7:64313936-64318911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:64315466-64315722	K562	blood:	n/a	n/a
2	JUN	chr7:64315474-64315715	K562	blood:	n/a	chr7:64315568-64315576 chr7:64315567-64315577 chr7:64315569-64315580
3	JUND	chr7:64315459-64315676	K562	blood:	n/a	chr7:64315568-64315576 chr7:64315567-64315577 chr7:64315569-64315580
4	MAX	chr7:64318013-64318317	K562	blood:	n/a	chr7:64318158-64318167
5	MYC	chr7:64314686-64314732	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr7:64314662-64314682	HUVEC	blood vessel:	n/a	n/a
7	NR2F2	chr7:64317582-64317932	K562	blood:	n/a	n/a
8	NR2F2	chr7:64317516-64317990	K562	blood:	n/a	n/a
9	PAX5	chr7:64315968-64316238	GM12878	blood:	n/a	n/a
10	STAT5A	chr7:64315306-64315768	K562	blood:	n/a	n/a
11	TAL1	chr7:64315389-64315700	K562	blood:	n/a	n/a
12	TAL1	chr7:64314046-64314454	K562	blood:	n/a	n/a
13	TAL1	chr7:64318171-64318222	K562	blood:	n/a	n/a
14	TEAD4	chr7:64314023-64314340	K562	blood:	n/a	n/a
15	TEAD4	chr7:64315363-64315734	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64314295-64314345	HepG2	liver:	n/a
2	chr7:64314295-64314345	Jurkat	blood:	n/a
3	chr7:64314295-64314345	HCM	heart:	n/a
4	chr7:64315122-64315172	GM12892	blood:	n/a
5	chr7:64315122-64315172	HCF	heart:	n/a
6	chr7:64315122-64315172	RPTEC	kidney:	n/a
7	chr7:64314295-64314345	ProgFib	skin:	n/a
8	chr7:64314295-64314345	NHDF-neo	bronchial:	n/a
9	chr7:64315122-64315172	ECC-1	luminal epithelium:	n/a
10	chr7:64315122-64315172	SAEC	small airway:	n/a
11	chr7:64314295-64314345	AoSMC	blood vessel:	n/a
12	chr7:64314295-64314345	HIPEpiC	eye:	n/a
13	chr7:64314295-64314345	U87	brain:	n/a
14	chr7:64315122-64315172	NH-A	brain:	n/a
15	chr7:64315122-64315172	PFSK-1	brain:	n/a
16	chr7:64314295-64314345	AG04450	lung:	fetal
17	chr7:64314295-64314345	NH-A	brain:	n/a
18	chr7:64315122-64315172	PANC-1	pancreas:	n/a
19	chr7:64315122-64315172	Hepatocyte	liver:	n/a
20	chr7:64314295-64314345	AG09309	skin:	n/a
21	chr7:64314295-64314345	HL-60	blood:	n/a
22	chr7:64314295-64314345	HNPCEpiC	eye:	n/a
23	chr7:64314295-64314345	SAEC	small airway:	n/a
24	chr7:64314295-64314345	Hepatocyte	liver:	n/a
25	chr7:64315122-64315172	HMEC	breast:	n/a
26	chr7:64315122-64315172	HNPCEpiC	eye:	n/a
27	chr7:64314295-64314345	PrEC	prostate:	n/a
28	chr7:64315122-64315172	HAEpiC	amniotic membrane:	n/a
29	chr7:64315122-64315172	HRE	kidney:	n/a
30	chr7:64315122-64315172	HCPEpiC	choroid plexus:	n/a
31	chr7:64315122-64315172	HEEpiC	esophagus:	n/a
32	chr7:64315122-64315172	SK-N-MC	brain:	n/a
33	chr7:64314295-64314345	HCT-116	colon:	n/a
34	chr7:64314295-64314345	NB4	blood:	n/a
35	chr7:64314295-64314345	H1-hESC	embryonic stem cell:	embryo
36	chr7:64314295-64314345	AG09319	gingival:	n/a
37	chr7:64314295-64314345	SKMC	muscle:	n/a
38	chr7:64315122-64315172	BJ	skin:	n/a
39	chr7:64315122-64315172	A549	lung:	n/a
40	chr7:64315122-64315172	HRPEpiC	eye:	n/a
41	chr7:64314295-64314345	HRE	kidney:	n/a
42	chr7:64314295-64314345	HEEpiC	esophagus:	n/a
43	chr7:64314295-64314345	NT2-D1	testis:	n/a
44	chr7:64315122-64315172	GM12878	blood:	n/a
45	chr7:64314295-64314345	PFSK-1	brain:	n/a
46	chr7:64315122-64315172	MCF-7	breast:	n/a
47	chr7:64315122-64315172	NHDF-neo	bronchial:	n/a
48	chr7:64315122-64315172	NB4	blood:	n/a
49	chr7:64315122-64315172	Hela-S3	cervix:	n/a
50	chr7:64314295-64314345	BE2_C	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:64314139..64316583-chr7:64317085..64319810,2	K562	blood:
2	chr7:64314139..64316583-chr7:64317085..64319810,2	K562	blood:
3	chr7:64311946..64314507-chr7:64316906..64318965,2	MCF-7	breast:
4	chr7:64314110..64316754-chr7:64405768..64408146,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF138-2	chr7:64312177-64314178	NONHSAT121039
2	lnc-ZNF138-2	chr7:64318585-64318690	NONHSAT121044

No data

Variant related genes	Relation type
SEPHS1P1	TF binding region
ENSG00000213640	TF binding region
SEPHS1P1	CpG island
ENSG00000213640	CpG island
ENSG00000182722	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542200995	chr7:64314050-64314051	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs555810066	chr7:64314056-64314057	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs7788396	chr7:64314079-64314080	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs35802638	chr7:64314122-64314123	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564603619	chr7:64314180-64314181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386713951	chr7:64314189-64314190	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs545725164	chr7:64314199-64314200	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs78466278	chr7:64314211-64314212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201786157	chr7:64314212-64314213	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs531516285	chr7:64314258-64314259	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537865727	chr7:64314283-64314284	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547736275	chr7:64314291-64314292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2863984	chr7:64314296-64314297	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs141901564	chr7:64314335-64314336	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs528820595	chr7:64314336-64314337	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs201809666	chr7:64314362-64314363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs11322394	chr7:64314415-64314416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs77624655	chr7:64314424-64314425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs547075683	chr7:64314477-64314478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534134478	chr7:64314483-64314484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115680046	chr7:64314529-64314530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367872763	chr7:64314549-64314550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186186694	chr7:64314562-64314563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375687930	chr7:64314601-64314602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115208550	chr7:64314621-64314622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76556391	chr7:64314635-64314636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547308932	chr7:64314679-64314680	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147036101	chr7:64314690-64314691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs562151697	chr7:64314705-64314706	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115854399	chr7:64314711-64314712	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190602045	chr7:64314718-64314719	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs138249737	chr7:64314742-64314743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573782276	chr7:64314764-64314765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551055833	chr7:64314832-64314833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140941760	chr7:64314899-64314900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11769995	chr7:64314903-64314904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs576259216	chr7:64314920-64314921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370109929	chr7:64314922-64314923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182871607	chr7:64314941-64314942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571260464	chr7:64315006-64315007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545084434	chr7:64315107-64315108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527273193	chr7:64315113-64315114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547038418	chr7:64315147-64315148	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs202050450	chr7:64315192-64315193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564201118	chr7:64315241-64315242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564979066	chr7:64315271-64315272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532898287	chr7:64315326-64315327	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs372489944	chr7:64315368-64315369	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs570167314	chr7:64315380-64315381	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs148423974	chr7:64315404-64315405	Weak transcription Enhancers	TF binding region	1 gene(s)	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64310400-64320600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:64311600-64314600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:64314600-64315600	Enhancers	K562	blood

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