Variant report

Variant	nsv456330
Chromosome Location	chr2:36019937-36098961
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	chr2:36026668..36029472-chr2:36034547..36037398,2	K562	blood:
2	chr2:36026668..36029472-chr2:36034547..36037398,2	K562	blood:

Extended variants
information (count: 2687 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2687 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10177485	chr2:36019937-36019938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573523863	chr2:36019948-36019949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10201071	chr2:36019951-36019952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369661129	chr2:36019962-36019963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192114477	chr2:36019975-36019976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577466323	chr2:36019976-36019977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10166465	chr2:36020005-36020006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10179927	chr2:36020067-36020068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183621103	chr2:36020135-36020136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138194634	chr2:36020147-36020148	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560748282	chr2:36020148-36020149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528310319	chr2:36020154-36020155	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373828605	chr2:36020158-36020159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188074000	chr2:36020231-36020232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571407801	chr2:36020239-36020240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532460528	chr2:36020272-36020273	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192727748	chr2:36020278-36020279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs567428444	chr2:36020307-36020308	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569259820	chr2:36020320-36020321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536738974	chr2:36020362-36020363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528583188	chr2:36020367-36020368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566977048	chr2:36020368-36020369	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534343345	chr2:36020370-36020371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574978378	chr2:36020386-36020387	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559216762	chr2:36020390-36020391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577430480	chr2:36020394-36020395	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10169238	chr2:36020401-36020402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184306343	chr2:36020461-36020462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142802009	chr2:36020474-36020475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370849681	chr2:36020486-36020487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568445978	chr2:36020497-36020498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10204222	chr2:36020504-36020505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146064845	chr2:36020523-36020524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528179585	chr2:36020541-36020542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113914737	chr2:36020590-36020591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12712466	chr2:36020591-36020592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532282449	chr2:36020592-36020593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550897252	chr2:36020646-36020647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188238647	chr2:36020669-36020670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191420680	chr2:36020686-36020687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548605495	chr2:36020687-36020688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370734756	chr2:36020691-36020692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114315266	chr2:36020723-36020724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370756906	chr2:36020730-36020731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373645196	chr2:36020755-36020756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552478420	chr2:36020767-36020768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571054687	chr2:36020776-36020777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61217534	chr2:36020794-36020795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556856772	chr2:36020867-36020868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540004131	chr2:36020906-36020907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36013200-36020200	Weak transcription	HMEC	breast
2	chr2:36018400-36022800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:36019200-36021800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:36019400-36021000	Enhancers	NHEK	skin
5	chr2:36019600-36022800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:36019800-36020000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:36019800-36021000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:36020000-36020400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:36020200-36021000	Enhancers	HMEC	breast
10	chr2:36020400-36020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:36020400-36021000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:36021800-36023800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:36023000-36023200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:36023800-36027600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:36027600-36028000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:36032000-36033400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:36033400-36036400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:36036400-36036600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:36036600-36036800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:36036800-36037600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:36037600-36038400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:36038400-36040800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:36039400-36039600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:36039800-36044000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:36040600-36041000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:36040800-36041000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:36040800-36041600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:36041000-36041600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:36041000-36044000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:36041600-36043800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:36041800-36043800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:36042200-36042400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:36042800-36044000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:36043800-36044000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:36043800-36044200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:36043800-36044600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:36044000-36044400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:36044000-36044400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:36044000-36044400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:36044000-36044800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:36044000-36044800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:36044200-36044400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:36044200-36044400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:36044200-36044600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:36044200-36045400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:36044200-36046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:36044400-36045200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:36044400-36045600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:36044400-36046600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:36044400-36048200	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links