Variant report

Variant	nsv873847
Chromosome Location	chr2:35601392-35670651
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:2)
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	chr2:35636612..35639504-chr2:35640533..35642866,2	MCF-7	breast:
2	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
3	chr2:35636612..35639504-chr2:35640533..35642866,2	MCF-7	breast:
4	chr2:35393157..35394354-chr2:35634679..35636139,8	MCF-7	breast:
5	chr2:35631189..35631709-chr5:42912392..42912906,2	MCF-7	breast:
6	chr2:35641385..35643000-chr2:35645114..35647584,2	K562	blood:
7	chr2:35641385..35643000-chr2:35645114..35647584,2	K562	blood:
8	chr2:35659227..35661410-chr2:35667763..35669756,2	MCF-7	breast:
9	chr2:35659227..35661410-chr2:35667763..35669756,2	MCF-7	breast:
10	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
11	chr2:35393272..35393934-chr2:35653413..35654042,2	MCF-7	breast:
12	chr2:35635532..35636321-chr7:108607888..108608786,2	MCF-7	breast:
13	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIM1-3	chr2:35666923-35667068	NONHSAT070071
2	lnc-CRIM1-3	chr2:35650255-35650330	NONHSAT070071

No data

Extended variants
information (count: 1055 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11890660	chr2:35601423-35601424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13399318	chr2:35601476-35601477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs75157637	chr2:35601483-35601484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563316326	chr2:35601493-35601494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13412659	chr2:35601505-35601506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188918768	chr2:35601508-35601509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78226818	chr2:35601551-35601552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553839826	chr2:35601585-35601586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192578439	chr2:35601590-35601591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377252101	chr2:35601636-35601637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528079448	chr2:35601637-35601638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547742474	chr2:35601641-35601642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543225847	chr2:35601645-35601646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530322277	chr2:35601677-35601678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553876688	chr2:35601681-35601682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151320987	chr2:35601704-35601705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568696854	chr2:35601705-35601706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114431705	chr2:35601778-35601779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566142233	chr2:35601787-35601788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561288216	chr2:35601800-35601801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71451214	chr2:35616843-35616844	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537764563	chr2:35616880-35616881	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557642347	chr2:35616920-35616921	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577380776	chr2:35616942-35616943	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546073119	chr2:35616956-35616957	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559848780	chr2:35616966-35616967	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573237671	chr2:35617022-35617023	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541853124	chr2:35617037-35617038	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561759614	chr2:35617088-35617089	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13418358	chr2:35617091-35617092	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs55756847	chr2:35617100-35617101	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564183951	chr2:35617102-35617103	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533193569	chr2:35617164-35617165	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78558186	chr2:35617198-35617199	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372490701	chr2:35629419-35629420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576618918	chr2:35629468-35629469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116355223	chr2:35629474-35629475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79818093	chr2:35629499-35629500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10495837	chr2:35629536-35629537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149747174	chr2:35629563-35629564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7608894	chr2:35629601-35629602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371401625	chr2:35629703-35629704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570719285	chr2:35629711-35629712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533341574	chr2:35629715-35629716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546738407	chr2:35629742-35629743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566937301	chr2:35629745-35629746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145546088	chr2:35629763-35629764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7608944	chr2:35629831-35629832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs140352515	chr2:35629849-35629850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538141407	chr2:35629908-35629909	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35601400-35601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:35616800-35617200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:35616800-35617200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:35629400-35630800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:35629600-35630000	Enhancers	Fetal Lung	lung
6	chr2:35630800-35636200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:35632200-35632400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:35633200-35633800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:35633200-35634000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:35633400-35634000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:35633400-35634200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:35633400-35634200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:35633600-35635600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35634200-35635400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:35634600-35635600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:35635400-35635600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:35636200-35636400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:35636400-35637200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:35637200-35637400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:35640400-35641200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:35640600-35641200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:35640600-35641200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:35640800-35641600	Enhancers	Brain Substantia Nigra	brain
24	chr2:35641000-35642600	Enhancers	Fetal Stomach	stomach
25	chr2:35641200-35641400	Enhancers	Fetal Lung	lung
26	chr2:35641400-35642000	Weak transcription	Fetal Lung	lung
27	chr2:35642000-35642600	Enhancers	Fetal Lung	lung
28	chr2:35659800-35660400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr2:35660000-35660600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr2:35660000-35660600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:35660400-35661200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:35660600-35665400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:35660600-35666200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:35660800-35661400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:35660800-35661600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:35660800-35661800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:35661000-35661400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:35661000-35661800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:35661200-35661800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:35661200-35662000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:35661400-35662000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr2:35661400-35662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:35661600-35661800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:35661800-35662600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:35661800-35666200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:35661800-35668400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:35662000-35662600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:35662000-35666200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:35662200-35664000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:35662600-35667600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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