Variant report

Variant	esv3440927
Chromosome Location	chr7:13409252-13412000
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	chr7:13411680-13411767	K562	blood:	n/a	n/a
2	CTCF	chr7:13409820-13409970	AG09319	gingival:	n/a	n/a
3	KAP1	chr7:13411744-13412095	K562	blood:	n/a	n/a
4	STAT3	chr7:13411842-13412006	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF274	chr7:13410485-13410811	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13404337..13406494-chr7:13407462..13410168,2	K562	blood:

Variant related genes	Relation type
ENSG00000237713	TF binding region
ENSG00000237713	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577428082	chr7:13409259-13409260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373539029	chr7:13409265-13409266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149899671	chr7:13409311-13409312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114119467	chr7:13409332-13409333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185331388	chr7:13409335-13409336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372059533	chr7:13409349-13409350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541506621	chr7:13409377-13409378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561847039	chr7:13409386-13409387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541003880	chr7:13409397-13409398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188268658	chr7:13409401-13409402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547332966	chr7:13409406-13409407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112655615	chr7:13409414-13409415	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148923015	chr7:13409430-13409431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533206169	chr7:13409464-13409465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10254404	chr7:13409475-13409476	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569856170	chr7:13409477-13409478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370303423	chr7:13409503-13409504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535676096	chr7:13409556-13409557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143952143	chr7:13409580-13409581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549221630	chr7:13409581-13409582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375714313	chr7:13409582-13409583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142840492	chr7:13409594-13409595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534044611	chr7:13409595-13409596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554090688	chr7:13409598-13409599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577216449	chr7:13409636-13409637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1432498	chr7:13409640-13409641	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs556476770	chr7:13409647-13409648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182289562	chr7:13409650-13409651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541988077	chr7:13409662-13409663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376616732	chr7:13409676-13409677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73068628	chr7:13409765-13409766	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571742634	chr7:13409766-13409767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187291888	chr7:13409779-13409780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564103823	chr7:13409780-13409781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532997630	chr7:13409798-13409799	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543724431	chr7:13409800-13409801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556880314	chr7:13409850-13409851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563546716	chr7:13409858-13409859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2568587	chr7:13409861-13409862	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549122922	chr7:13409867-13409868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565740802	chr7:13409877-13409878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2723434	chr7:13409884-13409885	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2723433	chr7:13409920-13409921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73068631	chr7:13409936-13409937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191691578	chr7:13409939-13409940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556158371	chr7:13409944-13409945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183758680	chr7:13409981-13409982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376336754	chr7:13410013-13410014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551390099	chr7:13410044-13410045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535752469	chr7:13410076-13410077	Inactive region	Chromatin interactive region	1 gene(s)	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
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	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

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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