Variant report

Variant	esv2761320
Chromosome Location	chr7:40440560-40479723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1289 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1289 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4134194	chr7:40440560-40440561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543726260	chr7:40440565-40440566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10229210	chr7:40440573-40440574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148229289	chr7:40440642-40440643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182460233	chr7:40440650-40440651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138548417	chr7:40440734-40440735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565603498	chr7:40440740-40440741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201423466	chr7:40440759-40440760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186904061	chr7:40440776-40440777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557444007	chr7:40440780-40440781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570892390	chr7:40440846-40440847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201988453	chr7:40440863-40440864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150725267	chr7:40440909-40440910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190982408	chr7:40440944-40440945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569922239	chr7:40440949-40440950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183548116	chr7:40440976-40440977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555847888	chr7:40441060-40441061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572423120	chr7:40441089-40441090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568994171	chr7:40441157-40441158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143741691	chr7:40441189-40441190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78916807	chr7:40441196-40441197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140604534	chr7:40441243-40441244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71536682	chr7:40441267-40441268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543742921	chr7:40441400-40441401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142817893	chr7:40441409-40441410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187513547	chr7:40441460-40441461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191975487	chr7:40441518-40441519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559475514	chr7:40441523-40441524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144539614	chr7:40441535-40441536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77269055	chr7:40441546-40441547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142314686	chr7:40441587-40441588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372103784	chr7:40441604-40441605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185338882	chr7:40441632-40441633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550073959	chr7:40441686-40441687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550006903	chr7:40441733-40441734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370614308	chr7:40441736-40441737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576589496	chr7:40441737-40441738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143860559	chr7:40441746-40441747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569982640	chr7:40441750-40441751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534607299	chr7:40441806-40441807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536070648	chr7:40441808-40441809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187862066	chr7:40441809-40441810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376920756	chr7:40441819-40441820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35842104	chr7:40441831-40441832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552964348	chr7:40441846-40441847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117056618	chr7:40442062-40442063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558280747	chr7:40442064-40442065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578076994	chr7:40442080-40442081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532988320	chr7:40442095-40442096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537407082	chr7:40442122-40442123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	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
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40440400-40441800	Enhancers	HUVEC	blood vessel
2	chr7:40441000-40441200	Enhancers	NHDF-Ad	bronchial
3	chr7:40441000-40442600	Enhancers	Fetal Kidney	kidney
4	chr7:40441200-40442400	Weak transcription	NHDF-Ad	bronchial
5	chr7:40442200-40443000	Enhancers	Liver	Liver
6	chr7:40442200-40443800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:40442400-40442600	Enhancers	Psoas Muscle	Psoas
8	chr7:40442400-40442600	Enhancers	NHDF-Ad	bronchial
9	chr7:40442400-40444800	Enhancers	HepG2	liver
10	chr7:40442600-40443400	Weak transcription	NHDF-Ad	bronchial
11	chr7:40443000-40443800	Flanking Active TSS	Liver	Liver
12	chr7:40443400-40443800	Enhancers	NHDF-Ad	bronchial
13	chr7:40443800-40445000	Enhancers	Liver	Liver
14	chr7:40444400-40445600	Weak transcription	Psoas Muscle	Psoas
15	chr7:40445800-40446000	Enhancers	Psoas Muscle	Psoas
16	chr7:40448600-40448800	ZNF genes & repeats	Aorta	Aorta
17	chr7:40448800-40450800	Weak transcription	Aorta	Aorta
18	chr7:40450800-40451000	ZNF genes & repeats	Aorta	Aorta
19	chr7:40451000-40458200	Weak transcription	Aorta	Aorta
20	chr7:40453600-40454400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:40454400-40458200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:40457800-40458200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:40457800-40458200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:40457800-40458200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:40457800-40458400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:40457800-40458400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:40457800-40458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:40457800-40458600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:40457800-40458800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:40457800-40458800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr7:40458000-40458400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:40458000-40458600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr7:40458200-40458400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:40458200-40458400	Enhancers	Aorta	Aorta
35	chr7:40458200-40458400	Enhancers	Ovary	ovary
36	chr7:40458200-40458400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:40458200-40460800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:40458200-40461000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:40458400-40458800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:40458400-40459000	Weak transcription	Ovary	ovary
44	chr7:40458400-40459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:40458400-40473200	Weak transcription	Aorta	Aorta
46	chr7:40458600-40459000	Enhancers	HepG2	liver
47	chr7:40458600-40459200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:40458600-40459600	Enhancers	Liver	Liver
49	chr7:40458800-40459000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:40458800-40459400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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