Variant report

Variant	esv2596299
Chromosome Location	chr7:12642629-12645751
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	chr7:12639327..12643094-chr7:12646520..12649667,3	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150724350	chr7:12642630-12642631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554240862	chr7:12642642-12642643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139013372	chr7:12642661-12642662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555877354	chr7:12642681-12642682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539900784	chr7:12642692-12642693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111334893	chr7:12642726-12642727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553442068	chr7:12642748-12642749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572605238	chr7:12642776-12642777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560912574	chr7:12642777-12642778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113921579	chr7:12642793-12642794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563558081	chr7:12642800-12642801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192493073	chr7:12642801-12642802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77126865	chr7:12642818-12642819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562739335	chr7:12642860-12642861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534981486	chr7:12642862-12642863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183778809	chr7:12642871-12642872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558205065	chr7:12642919-12642920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373358716	chr7:12642924-12642925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530124489	chr7:12642926-12642927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547054848	chr7:12642928-12642929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs849775	chr7:12642930-12642931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532667155	chr7:12642931-12642932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188786958	chr7:12642949-12642950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371329665	chr7:12643010-12643011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538110905	chr7:12643011-12643012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548873352	chr7:12643023-12643024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112721825	chr7:12643130-12643131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568456591	chr7:12643141-12643142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201132770	chr7:12643150-12643151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202217069	chr7:12643156-12643157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73294923	chr7:12643186-12643187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565829969	chr7:12643198-12643199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368550742	chr7:12643199-12643200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553382789	chr7:12643240-12643241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576516970	chr7:12643268-12643269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564046986	chr7:12643270-12643271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191933234	chr7:12643277-12643278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111358894	chr7:12643278-12643279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556058079	chr7:12643318-12643319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374275532	chr7:12643369-12643370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541715638	chr7:12643385-12643386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13340547	chr7:12643392-12643393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs849776	chr7:12643396-12643397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540608981	chr7:12643432-12643433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560504261	chr7:12643472-12643473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11308387	chr7:12643535-12643536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77930712	chr7:12643540-12643541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183272733	chr7:12643545-12643546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144401081	chr7:12643558-12643559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370975064	chr7:12643603-12643604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	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
Glioblastoma multiforme	17002787	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:12637000-12644000	Weak transcription	K562	blood
5	chr7:12639800-12649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:12641400-12644000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:12642400-12649200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:12642800-12649400	Weak transcription	Adipose Nuclei	Adipose
9	chr7:12644000-12644400	ZNF genes & repeats	K562	blood
10	chr7:12644000-12647000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:12644400-12649400	Weak transcription	K562	blood

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