Variant report

Variant	esv1826520
Chromosome Location	chr2:76844466-76858612
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	chr2:76837968..76839669-chr2:76845469..76848246,2	MCF-7	breast:

Extended variants
information (count: 571 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1154641	chr2:76844466-76844467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115407853	chr2:76844483-76844484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147587784	chr2:76844486-76844487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112312650	chr2:76844490-76844491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535303298	chr2:76844502-76844503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553111666	chr2:76844515-76844516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574753137	chr2:76844563-76844564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141985740	chr2:76844579-76844580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563793829	chr2:76844654-76844655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370749035	chr2:76844690-76844691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71374379	chr2:76844697-76844698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533383608	chr2:76844709-76844710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74263978	chr2:76844713-76844714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575143085	chr2:76844763-76844764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545594823	chr2:76844764-76844765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563897088	chr2:76844767-76844768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528392082	chr2:76844768-76844769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540115834	chr2:76844774-76844775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561564184	chr2:76844784-76844785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185829240	chr2:76844788-76844789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577813771	chr2:76844789-76844790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371087820	chr2:76844858-76844859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142051192	chr2:76844878-76844879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568939644	chr2:76844912-76844913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191126381	chr2:76844917-76844918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534250439	chr2:76844935-76844936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34409015	chr2:76844985-76844986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182690842	chr2:76845010-76845011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370486374	chr2:76845024-76845025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528469518	chr2:76845037-76845038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552821775	chr2:76845041-76845042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188207918	chr2:76845099-76845100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571026763	chr2:76845122-76845123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374514586	chr2:76845144-76845145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535365987	chr2:76845160-76845161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553611390	chr2:76845185-76845186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568400542	chr2:76845208-76845209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535837835	chr2:76845229-76845230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554028659	chr2:76845233-76845234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190410666	chr2:76845252-76845253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565394343	chr2:76845256-76845257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532863787	chr2:76845271-76845272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375696965	chr2:76845273-76845274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575342554	chr2:76845290-76845291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2203925	chr2:76845335-76845336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550858921	chr2:76845338-76845339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557561099	chr2:76845361-76845362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572686933	chr2:76845373-76845374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151225688	chr2:76845386-76845387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140369978	chr2:76845390-76845391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76817200-76849600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:76840800-76849600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76841600-76847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:76842600-76850000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:76842800-76849000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:76847000-76847200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:76847200-76847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:76847600-76847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:76847800-76850000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:76849000-76853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:76849600-76850000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:76849600-76852200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:76850000-76850600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:76850000-76851000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:76850000-76851200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:76850600-76851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:76851000-76851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:76851000-76852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:76851200-76852200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:76851400-76852800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:76851600-76852200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:76851800-76852200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:76851800-76852200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:76851800-76852400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:76852000-76852400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:76852000-76852400	Enhancers	Fetal Muscle Leg	muscle
27	chr2:76852000-76852600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:76852200-76856400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:76852200-76856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:76852200-76856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:76852200-76859200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:76852200-76872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:76852400-76856400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:76852400-76858600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:76852600-76858000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:76852800-76856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:76853400-76855600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:76855600-76855800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:76855800-76856200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:76856200-76860000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:76856200-76860400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:76856400-76856600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:76856400-76856600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:76856400-76856800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:76856400-76857000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:76856400-76857400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr2:76856600-76858600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:76856800-76858200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:76857000-76858200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:76857400-76858000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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