Variant report

Variant	esv2763614
Chromosome Location	chr7:7039486-7045225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:
2	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:

Extended variants
information (count: 321 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560362648	chr7:7039487-7039488	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527716159	chr7:7039510-7039511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373902278	chr7:7039548-7039549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552145339	chr7:7039553-7039554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571257167	chr7:7039569-7039570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192775632	chr7:7039585-7039586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550514705	chr7:7039590-7039591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531529895	chr7:7039597-7039598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12334029	chr7:7039603-7039604	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146142681	chr7:7039604-7039605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184110626	chr7:7039606-7039607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533818022	chr7:7039609-7039610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547339053	chr7:7039641-7039642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558541705	chr7:7039648-7039649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187329086	chr7:7039663-7039664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544856273	chr7:7039664-7039665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377266105	chr7:7039666-7039667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140172895	chr7:7039667-7039668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142287291	chr7:7039668-7039669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192154314	chr7:7039703-7039704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527779254	chr7:7039719-7039720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545799076	chr7:7039741-7039742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557430779	chr7:7039754-7039755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564102519	chr7:7039765-7039766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371004782	chr7:7039766-7039767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532292044	chr7:7039835-7039836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550877055	chr7:7039838-7039839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562623614	chr7:7039839-7039840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570752836	chr7:7039843-7039844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6958080	chr7:7039912-7039913	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150823322	chr7:7039917-7039918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566574727	chr7:7039926-7039927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556444446	chr7:7039937-7039938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533831430	chr7:7039968-7039969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552217790	chr7:7039985-7039986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570434427	chr7:7039995-7039996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537422681	chr7:7039997-7039998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556852322	chr7:7040030-7040031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139327195	chr7:7040045-7040046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79867456	chr7:7040046-7040047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535497820	chr7:7040061-7040062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554172496	chr7:7040076-7040077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184536234	chr7:7040085-7040086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572220287	chr7:7040093-7040094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545862772	chr7:7040123-7040124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572330005	chr7:7040129-7040130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4074751	chr7:7040176-7040177	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs60562030	chr7:7040257-7040258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543441872	chr7:7040278-7040279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562846724	chr7:7040288-7040289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7032400-7051800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7035600-7041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:7038600-7040200	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr7:7039200-7042200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:7039600-7053800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:7040200-7040800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:7040200-7050800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:7040400-7040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:7040600-7040800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:7040600-7041000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:7040600-7042600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:7040800-7041000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:7040800-7041000	Enhancers	K562	blood
14	chr7:7040800-7042200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:7040800-7042800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:7040800-7043200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:7040800-7043600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:7040800-7043600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:7041000-7041800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:7041000-7043600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:7041000-7045000	Weak transcription	K562	blood
22	chr7:7041200-7042800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:7041200-7043000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:7041600-7043200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:7041800-7043400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:7042200-7042600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:7042200-7042600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:7042200-7043200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr7:7042600-7043200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:7043200-7051200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:7043600-7044800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:7044800-7045000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:7045000-7045400	Enhancers	K562	blood

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