Variant report

Variant	nsv522095
Chromosome Location	chr2:53475338-53551600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53502164..53503669-chr2:53509453..53511417,2	K562	blood:
2	chr2:53502164..53503669-chr2:53509453..53511417,2	K562	blood:
3	chr2:53474174..53476615-chr2:53992818..53995812,2	K562	blood:
4	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:
5	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:

Variant related genes	Relation type
ENSG00000115239	chromatin interactions
ENSG00000143942	chromatin interactions

Extended variants
information (count: 2723 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2723 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs195579	chr2:53475338-53475339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs13385885	chr2:53475357-53475358	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113615832	chr2:53475388-53475389	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545039299	chr2:53475455-53475456	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565593997	chr2:53475481-53475482	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539138878	chr2:53475482-53475483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528001603	chr2:53475505-53475506	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143087577	chr2:53475520-53475521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561503836	chr2:53475556-53475557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs56981147	chr2:53475558-53475559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182800107	chr2:53475561-53475562	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538628658	chr2:53475574-53475575	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568820509	chr2:53475603-53475604	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs186129579	chr2:53475633-53475634	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs377131251	chr2:53475666-53475667	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192187123	chr2:53475674-53475675	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184033379	chr2:53475707-53475708	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187810313	chr2:53475713-53475714	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553642850	chr2:53475714-53475715	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs72910203	chr2:53475740-53475741	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536001415	chr2:53475792-53475793	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs556631938	chr2:53475794-53475795	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144759634	chr2:53475810-53475811	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191983332	chr2:53475813-53475814	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558713080	chr2:53475820-53475821	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572459783	chr2:53475875-53475876	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552549007	chr2:53475876-53475877	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541790877	chr2:53475923-53475924	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs115032998	chr2:53475942-53475943	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs195580	chr2:53476003-53476004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs124954	chr2:53476017-53476018	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs6712763	chr2:53476018-53476019	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531337632	chr2:53476022-53476023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376843041	chr2:53476030-53476031	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370652344	chr2:53476038-53476039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551441955	chr2:53476046-53476047	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs186870276	chr2:53476131-53476132	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554712145	chr2:53476181-53476182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs148506237	chr2:53476187-53476188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547293450	chr2:53476196-53476197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7566850	chr2:53476197-53476198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574859718	chr2:53476243-53476244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs192790549	chr2:53476257-53476258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs184467373	chr2:53476258-53476259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113447483	chr2:53476262-53476263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538794642	chr2:53476290-53476291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375152915	chr2:53476291-53476292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559005115	chr2:53476306-53476307	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572472241	chr2:53476314-53476315	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534977217	chr2:53476322-53476323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53471800-53480400	Weak transcription	Pancreas	Pancrea
2	chr2:53474800-53476200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:53475000-53476000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:53475000-53479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:53475600-53476000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:53475600-53476000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:53475600-53476400	Enhancers	Fetal Heart	heart
8	chr2:53475800-53476000	Enhancers	Psoas Muscle	Psoas
9	chr2:53476000-53479000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:53476800-53477200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:53477000-53477400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:53477200-53480000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:53479000-53479600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:53479000-53479600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:53479000-53479600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:53479000-53479600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:53479000-53479800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:53479200-53479600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:53479200-53480200	Enhancers	Hela-S3	cervix
20	chr2:53480000-53480800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:53480400-53480800	Enhancers	Pancreas	Pancrea
22	chr2:53485800-53493000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:53487000-53487200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:53490800-53493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:53492000-53495200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:53492400-53493800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:53492800-53493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:53492800-53493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:53492800-53495400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:53493000-53493200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:53493200-53493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:53493200-53494000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:53493200-53495000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:53494600-53495400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:53494800-53495600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:53495000-53495800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:53495200-53496200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:53495600-53496200	Enhancers	HMEC	breast
39	chr2:53495600-53496200	Enhancers	NHEK	skin
40	chr2:53496200-53511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:53501600-53502000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:53501600-53502400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:53501600-53502400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:53501800-53502200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:53501800-53502400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:53501800-53502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:53502000-53502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:53502000-53502400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:53502000-53502400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:53502000-53502400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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