Variant report

Variant	nsv518149
Chromosome Location	chr7:14113503-14118349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:14113767-14113895	K562	blood:	n/a	n/a
2	CEBPB	chr7:14117611-14117889	A549	lung:	n/a	chr7:14117713-14117726 chr7:14117713-14117724 chr7:14117714-14117725
3	CEBPB	chr7:14117589-14117774	HepG2	liver:	n/a	chr7:14117713-14117726 chr7:14117713-14117724 chr7:14117714-14117725
4	GATA3	chr7:14113424-14113922	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr7:14113611-14113621	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:14114137-14114143	SH-SY5Y	brain:	n/a	n/a
7	MXI1	chr7:14114241-14114322	GM12878	blood:	n/a	n/a
8	SPI1	chr7:14113124-14113626	HL-60	blood:	n/a	chr7:14113391-14113400 chr7:14113389-14113402 chr7:14113390-14113403
9	STAT3	chr7:14118101-14118265	MCF10A-Er-Src	breast:	n/a	n/a
10	USF2	chr7:14115360-14115376	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:14116104..14118348-chr7:14120734..14122252,2	K562	blood:

Variant related genes	Relation type
RPL6P21	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2884306	chr7:14113503-14113504	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531960167	chr7:14113519-14113520	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547256088	chr7:14113539-14113540	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs116793592	chr7:14113542-14113543	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529358134	chr7:14113565-14113566	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528782665	chr7:14113582-14113583	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190140695	chr7:14113586-14113587	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs10260700	chr7:14113597-14113598	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537145134	chr7:14113599-14113600	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377246433	chr7:14113621-14113622	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs565120526	chr7:14113622-14113623	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567331766	chr7:14113649-14113650	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs182377643	chr7:14113712-14113713	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs552911345	chr7:14113713-14113714	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187671473	chr7:14113773-14113774	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs141387231	chr7:14113897-14113898	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150388154	chr7:14113900-14113901	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546619634	chr7:14113910-14113911	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs575359441	chr7:14113924-14113925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543965908	chr7:14113968-14113969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566420298	chr7:14113978-14113979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554685231	chr7:14114004-14114005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538570899	chr7:14114030-14114031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192593688	chr7:14114086-14114087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559713549	chr7:14114108-14114109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6975368	chr7:14114136-14114137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545341123	chr7:14114172-14114173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376107489	chr7:14114173-14114174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569041289	chr7:14114271-14114272	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs184043650	chr7:14114305-14114306	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs56867158	chr7:14114316-14114317	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs60121356	chr7:14114331-14114332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538079620	chr7:14114358-14114359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372430280	chr7:14114395-14114396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375548556	chr7:14114418-14114419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138142654	chr7:14114430-14114431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554337205	chr7:14114437-14114438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530149996	chr7:14114466-14114467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574641876	chr7:14114486-14114487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371205538	chr7:14114489-14114490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188974231	chr7:14114503-14114504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566678568	chr7:14114504-14114505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538935121	chr7:14114531-14114532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558936137	chr7:14114533-14114534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568857703	chr7:14114534-14114535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192344394	chr7:14114555-14114556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537165231	chr7:14114564-14114565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184508075	chr7:14114566-14114567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574440042	chr7:14114581-14114582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539961855	chr7:14114592-14114593	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14112400-14114000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:14113000-14114200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:14113000-14115000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:14113000-14115400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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