Variant report

Variant	nsv970426
Chromosome Location	chr7:125070065-125076548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:125076380-125076530	HRE	kidney:	n/a	n/a
2	FOS	chr7:125071477-125071633	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr7:125074554-125074737	SH-SY5Y	brain:	n/a	n/a
4	GTF2F1	chr7:125074839-125074958	K562	blood:	n/a	n/a
5	JUN	chr7:125076015-125076031	K562	blood:	n/a	n/a
6	POLR2A	chr7:125075367-125075761	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr7:125074957-125075157	MCF10A-Er-Src	breast:	n/a	chr7:125074973-125074981

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:125070959..125073239-chr7:125075739..125078658,3	K562	blood:
2	chr7:125070959..125073239-chr7:125075739..125078658,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-6	chr7:125071401-125071647	ENSG00000227869
2	lnc-SPAM1-6	chr7:125071401-125071647	NONHSAT123109

No data

Variant related genes	Relation type
ENSG00000227869	TF binding region
ENSG00000227869	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571447312	chr7:125070081-125070082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536777830	chr7:125070084-125070085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs792532	chr7:125070116-125070117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375678569	chr7:125070120-125070121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547878986	chr7:125070132-125070133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140008578	chr7:125070140-125070141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552509679	chr7:125070144-125070145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139505061	chr7:125070198-125070199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374661942	chr7:125070210-125070211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572445468	chr7:125070211-125070212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193192889	chr7:125070294-125070295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11760337	chr7:125070301-125070302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs578136340	chr7:125070355-125070356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529028703	chr7:125070364-125070365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145420348	chr7:125070378-125070379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563808738	chr7:125070417-125070418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1582860	chr7:125070426-125070427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543086749	chr7:125070474-125070475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559782868	chr7:125070479-125070480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548449123	chr7:125070504-125070505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1816219	chr7:125070505-125070506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148706158	chr7:125070558-125070559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183973172	chr7:125070609-125070610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6952016	chr7:125070621-125070622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs188650592	chr7:125070629-125070630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535953872	chr7:125070633-125070634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546235002	chr7:125070634-125070635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566108792	chr7:125070638-125070639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535018230	chr7:125070662-125070663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558052191	chr7:125070663-125070664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs1820591	chr7:125070720-125070721	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9691414	chr7:125070736-125070737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs116313108	chr7:125070769-125070770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543124916	chr7:125070776-125070777	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559823289	chr7:125070778-125070779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113275021	chr7:125070787-125070788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7456179	chr7:125070806-125070807	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183505952	chr7:125070813-125070814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551267259	chr7:125070840-125070841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530674822	chr7:125070889-125070890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550790621	chr7:125070892-125070893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538213736	chr7:125070897-125070898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550307792	chr7:125070936-125070937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560921692	chr7:125070945-125070946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202115913	chr7:125070964-125070965	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs59233957	chr7:125070966-125070967	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs4400313	chr7:125070969-125070970	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34364579	chr7:125070977-125070978	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571334948	chr7:125070978-125070979	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs5887237	chr7:125070992-125070993	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125065800-125078000	Weak transcription	HMEC	breast
2	chr7:125068200-125086200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:125069200-125070600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:125070600-125071600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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