Variant report

Variant	esv1794525
Chromosome Location	chr2:76842243-76858085
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: 643 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188255604	chr2:76842246-76842247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559624742	chr2:76842247-76842248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112048410	chr2:76842275-76842276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554571014	chr2:76842278-76842279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575929461	chr2:76842317-76842318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138868630	chr2:76842323-76842324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532979036	chr2:76842332-76842333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112851553	chr2:76842353-76842354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545229561	chr2:76842363-76842364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577864880	chr2:76842390-76842391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142000363	chr2:76842406-76842407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146330934	chr2:76842450-76842451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527991619	chr2:76842462-76842463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78414793	chr2:76842468-76842469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112016190	chr2:76842510-76842511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386647523	chr2:76842528-76842529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62171721	chr2:76842529-76842530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531591707	chr2:76842545-76842546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550290030	chr2:76842558-76842559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571765401	chr2:76842565-76842566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184661738	chr2:76842573-76842574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72810898	chr2:76842575-76842576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565852106	chr2:76842585-76842586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189425452	chr2:76842592-76842593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139568324	chr2:76842616-76842617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531050388	chr2:76842632-76842633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569676241	chr2:76842715-76842716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549364868	chr2:76842744-76842745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114005967	chr2:76842780-76842781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114781148	chr2:76842781-76842782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540688467	chr2:76842792-76842793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551527877	chr2:76842801-76842802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141828915	chr2:76842817-76842818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555282354	chr2:76842846-76842847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572283973	chr2:76842848-76842849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192684518	chr2:76842864-76842865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139952843	chr2:76842891-76842892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62171722	chr2:76842906-76842907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1401887	chr2:76842909-76842910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184122414	chr2:76842943-76842944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532674782	chr2:76842946-76842947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547891020	chr2:76842954-76842955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565918812	chr2:76842968-76842969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529842280	chr2:76843061-76843062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548513316	chr2:76843076-76843077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569857763	chr2:76843087-76843088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537309595	chr2:76843099-76843100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558144198	chr2:76843118-76843119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570083721	chr2:76843150-76843151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546977834	chr2:76843151-76843152	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	chr2:76836800-76842600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:76837200-76842800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:76840800-76849600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:76841600-76842400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:76841600-76847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:76842200-76842600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:76842600-76842800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:76842600-76850000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:76842800-76849000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:76847000-76847200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:76847200-76847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:76847600-76847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:76847800-76850000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:76849000-76853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:76849600-76850000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr2:76849600-76852200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:76850000-76850600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:76850000-76851000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:76850000-76851200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:76850600-76851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:76851000-76851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:76851000-76852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:76851200-76852200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:76851400-76852800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:76851600-76852200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:76851800-76852200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:76851800-76852200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:76851800-76852400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:76852000-76852400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:76852000-76852400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:76852000-76852600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:76852200-76856400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:76852200-76856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:76852200-76856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:76852200-76859200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:76852200-76872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:76852400-76856400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:76852400-76858600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:76852600-76858000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:76852800-76856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:76853400-76855600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:76855600-76855800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:76855800-76856200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:76856200-76860000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:76856200-76860400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:76856400-76856600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:76856400-76856600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:76856400-76856800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:76856400-76857000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell

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