Variant report

Variant	nsv874006
Chromosome Location	chr2:49092782-49141414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:49114963..49117141-chr2:49121572..49123521,3	K562	blood:
2	chr2:48826097..48828718-chr2:49093582..49095780,2	K562	blood:
3	chr2:49114963..49117141-chr2:49121572..49123521,3	K562	blood:
4	chr2:49121216..49123118-chr2:49126253..49127804,2	MCF-7	breast:
5	chr2:49096223..49098177-chr2:49104222..49106803,2	MCF-7	breast:
6	chr2:49096223..49098177-chr2:49104222..49106803,2	MCF-7	breast:
7	chr2:48993937..48996711-chr2:49125527..49127927,2	MCF-7	breast:
8	chr2:49108913..49110824-chr2:49114186..49115949,2	MCF-7	breast:
9	chr2:49121216..49123118-chr2:49126253..49127804,2	MCF-7	breast:
10	chr2:49139634..49141993-chr2:49154425..49156573,2	K562	blood:
11	chr2:49081319..49083197-chr2:49107259..49109037,2	MCF-7	breast:
12	chr2:49127535..49130275-chr2:49154381..49157152,2	MCF-7	breast:
13	chr2:49108913..49110824-chr2:49114186..49115949,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068781	chromatin interactions

Extended variants
information (count: 1687 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1687 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12614310	chr2:49092782-49092783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552898317	chr2:49092784-49092785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141488854	chr2:49092829-49092830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192707636	chr2:49092874-49092875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556761697	chr2:49092885-49092886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575271115	chr2:49092901-49092902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12614293	chr2:49092909-49092910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs114037778	chr2:49092915-49092916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528097617	chr2:49092922-49092923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111688564	chr2:49092945-49092946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184501816	chr2:49092989-49092990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562408511	chr2:49093010-49093011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529447601	chr2:49093012-49093013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551179939	chr2:49093048-49093049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114476465	chr2:49093064-49093065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569368923	chr2:49093141-49093142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370907674	chr2:49093159-49093160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533431109	chr2:49093174-49093175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146187772	chr2:49093177-49093178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17555938	chr2:49093202-49093203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148422315	chr2:49093211-49093212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10490128	chr2:49093258-49093259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs114575792	chr2:49093279-49093280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535409687	chr2:49093292-49093293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557086713	chr2:49093293-49093294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575360449	chr2:49093297-49093298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566810388	chr2:49093304-49093305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539474102	chr2:49093323-49093324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557930592	chr2:49093334-49093335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35872127	chr2:49093335-49093336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189773343	chr2:49093342-49093343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540262508	chr2:49093368-49093369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181364573	chr2:49093436-49093437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574247313	chr2:49093448-49093449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555072979	chr2:49093497-49093498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142552982	chr2:49093507-49093508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533363832	chr2:49093617-49093618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185779670	chr2:49093619-49093620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188917914	chr2:49093640-49093641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72889133	chr2:49093650-49093651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139566002	chr2:49093654-49093655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567341237	chr2:49093662-49093663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535703132	chr2:49093726-49093727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181616472	chr2:49093727-49093728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186438921	chr2:49093758-49093759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192099638	chr2:49093795-49093796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369344913	chr2:49093830-49093831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557869255	chr2:49093861-49093862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573000499	chr2:49093889-49093890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533893283	chr2:49093951-49093952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49090200-49095000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:49092000-49092800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:49092000-49092800	Enhancers	Ovary	ovary
4	chr2:49092000-49093000	Enhancers	Lung	lung
5	chr2:49092600-49092800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:49092800-49098200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:49093000-49093400	Weak transcription	Lung	lung
8	chr2:49093600-49093800	Enhancers	Lung	lung
9	chr2:49095000-49095200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr2:49095200-49097600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:49097400-49097600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:49097400-49098400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:49097600-49097800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:49097600-49098200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:49097600-49098400	Enhancers	Fetal Stomach	stomach
16	chr2:49097600-49098600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:49097800-49098000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:49097800-49098000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:49097800-49098400	Enhancers	Brain Germinal Matrix	brain
20	chr2:49097800-49098600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:49098000-49098200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:49098200-49098600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:49098200-49098600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:49098600-49098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:49099600-49101000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:49100600-49101000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:49102000-49102200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:49107200-49115400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:49111000-49112400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:49111600-49111800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:49112400-49115000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:49114000-49116200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:49114200-49114400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:49114200-49116000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:49114200-49116200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:49114400-49115000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:49114800-49116200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:49114800-49116200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:49115000-49115600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:49115000-49116000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:49115200-49116000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:49115200-49116000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:49115400-49116000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:49115400-49116200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:49115600-49120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:49116000-49119600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:49116200-49119400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:49117400-49117800	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:49117600-49118800	Enhancers	Colon Smooth Muscle	Colon
50	chr2:49119000-49121000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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