Variant report

Variant	esv2756930
Chromosome Location	chr2:76837901-76860212
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:
2	chr2:76837968..76839669-chr2:76845469..76848246,2	MCF-7	breast:

Extended variants
information (count: 935 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:935 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6724262	chr2:76837901-76837902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545757119	chr2:76837936-76837937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541482024	chr2:76837950-76837951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140703782	chr2:76837999-76838000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144405233	chr2:76838023-76838024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12618441	chr2:76838047-76838048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs151079786	chr2:76838057-76838058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12618442	chr2:76838060-76838061	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141069175	chr2:76838074-76838075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377008584	chr2:76838075-76838076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532588190	chr2:76838122-76838123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76368537	chr2:76838154-76838155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561696432	chr2:76838167-76838168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541440759	chr2:76838171-76838172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35866502	chr2:76838222-76838223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201086717	chr2:76838229-76838230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559744800	chr2:76838247-76838248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530234948	chr2:76838249-76838250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72051742	chr2:76838256-76838257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555714030	chr2:76838270-76838271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548672852	chr2:76838282-76838283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573851328	chr2:76838321-76838322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185612712	chr2:76838350-76838351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371128129	chr2:76838378-76838379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552485358	chr2:76838401-76838402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570650337	chr2:76838419-76838420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529058744	chr2:76838448-76838449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534556621	chr2:76838482-76838483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552556555	chr2:76838490-76838491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150126681	chr2:76838510-76838511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535203913	chr2:76838523-76838524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191556636	chr2:76838561-76838562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538039219	chr2:76838577-76838578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374091568	chr2:76838609-76838610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76021305	chr2:76838646-76838647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145501232	chr2:76838654-76838655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116066939	chr2:76838660-76838661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541712937	chr2:76838666-76838667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114789201	chr2:76838672-76838673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530093503	chr2:76838768-76838769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111334596	chr2:76838779-76838780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183387374	chr2:76838825-76838826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146922212	chr2:76838836-76838837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187158690	chr2:76838861-76838862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530779437	chr2:76838903-76838904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138217058	chr2:76838923-76838924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191824851	chr2:76838929-76838930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183335283	chr2:76838937-76838938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186565705	chr2:76838942-76838943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373959771	chr2:76838947-76838948	Weak transcription Enhancers	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:89 , 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	chr2:76836800-76842600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:76837200-76838200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:76837200-76839800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:76837200-76842800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:76837400-76838200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:76837400-76838400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:76837400-76839000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:76837600-76842200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:76837800-76838600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:76838200-76839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:76838200-76841800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:76838400-76839400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:76838600-76839800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:76839000-76840200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:76839400-76840800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:76839800-76840400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:76839800-76840600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:76839800-76840600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:76839800-76840600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:76839800-76840800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:76840200-76841200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:76840600-76841200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:76840600-76842200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:76840800-76849600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:76841200-76841600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:76841200-76841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:76841600-76842400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:76841600-76847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:76841800-76842000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:76842200-76842600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:76842600-76842800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:76842600-76850000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:76842800-76849000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:76847000-76847200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:76847200-76847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:76847600-76847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:76847800-76850000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:76849000-76853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:76849600-76850000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr2:76849600-76852200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:76850000-76850600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:76850000-76851000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:76850000-76851200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:76850600-76851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:76851000-76851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:76851000-76852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:76851200-76852200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr2:76851400-76852800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:76851600-76852200	Enhancers	H9 Cell Line	embryonic stem cell

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