Variant report

Variant	nsv1010119
Chromosome Location	chr2:76904730-76949552
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	chr2:76886401..76888987-chr2:76909851..76912753,2	K562	blood:

Extended variants
information (count: 2650 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2650 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11126549	chr2:76904730-76904731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139321837	chr2:76904738-76904739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530150246	chr2:76904755-76904756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190434941	chr2:76904805-76904806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569955611	chr2:76904807-76904808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537502409	chr2:76904813-76904814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558885554	chr2:76904825-76904826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570794212	chr2:76904839-76904840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572391245	chr2:76904896-76904897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145756966	chr2:76904897-76904898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534789093	chr2:76904905-76904906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369886261	chr2:76904921-76904922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553226597	chr2:76904974-76904975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574441934	chr2:76904978-76904979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149923976	chr2:76905005-76905006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75985392	chr2:76905038-76905039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370298735	chr2:76905069-76905070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547432675	chr2:76905085-76905086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145763754	chr2:76905090-76905091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565213471	chr2:76905095-76905096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77204832	chr2:76905105-76905106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541191223	chr2:76905107-76905108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73938494	chr2:76905122-76905123	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558724082	chr2:76905132-76905133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114163278	chr2:76905151-76905152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548390507	chr2:76905154-76905155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182865675	chr2:76905161-76905162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78296561	chr2:76905162-76905163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186130384	chr2:76905192-76905193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368575761	chr2:76905218-76905219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148945024	chr2:76905271-76905272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576722509	chr2:76905304-76905305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570733008	chr2:76905324-76905325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531351916	chr2:76905328-76905329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371265777	chr2:76905334-76905335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534934176	chr2:76905348-76905349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546768576	chr2:76905357-76905358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568156521	chr2:76905406-76905407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112561962	chr2:76905446-76905447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535677873	chr2:76905449-76905450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142867024	chr2:76905461-76905462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11126550	chr2:76905498-76905499	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539017746	chr2:76905499-76905500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377088522	chr2:76905521-76905522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557346458	chr2:76905531-76905532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549780947	chr2:76905549-76905550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541331134	chr2:76905587-76905588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112978644	chr2:76905590-76905591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574925256	chr2:76905606-76905607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79163239	chr2:76905622-76905623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Epilepsy	22083797	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76898600-76905400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:76900000-76905600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:76903400-76904800	Weak transcription	Fetal Brain Male	brain
4	chr2:76903400-76905200	Weak transcription	Fetal Brain Female	brain
5	chr2:76903400-76905400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:76904600-76906600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:76904800-76905600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:76904800-76906000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:76904800-76906600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:76904800-76907200	Enhancers	Fetal Brain Male	brain
11	chr2:76905000-76905400	Enhancers	Brain Anterior Caudate	brain
12	chr2:76905000-76908000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:76905200-76905800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:76905200-76906400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:76905200-76906400	Enhancers	Fetal Brain Female	brain
16	chr2:76905200-76906600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:76905400-76905600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:76905400-76906000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:76905400-76906000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr2:76905400-76906400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:76905400-76906600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:76905400-76906600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:76905600-76906000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:76905600-76906200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:76905600-76906400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:76905600-76907600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:76905800-76906400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:76905800-76906400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:76906000-76906400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:76906000-76906400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:76906000-76906400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:76906000-76906400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:76906000-76906400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:76906000-76926600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:76906200-76906400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:76906400-76906600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:76906400-76906600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:76906400-76906600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:76906400-76907200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:76906600-76907600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:76906600-76907600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:76906600-76907800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:76906600-76907800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:76906600-76913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:76907200-76907600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:76907600-76908000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:76907600-76908200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:76907600-76908400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:76907600-76908400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:76907800-76908400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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