Variant report

Variant	nsv1003971
Chromosome Location	chr2:35969472-36135111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36099243..36100067-chr2:36734209..36735134,2	MCF-7	breast:
2	chr2:36026668..36029472-chr2:36034547..36037398,2	K562	blood:
3	chr2:36026668..36029472-chr2:36034547..36037398,2	K562	blood:

Extended variants
information (count: 4536 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:4536 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567872772	chr2:35969505-35969506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117145860	chr2:35969526-35969527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7569751	chr2:35969555-35969556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571784418	chr2:35969559-35969560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539179086	chr2:35969587-35969588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56864167	chr2:35969614-35969615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576159700	chr2:35969616-35969617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62147766	chr2:35969625-35969626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12470712	chr2:35969626-35969627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533057420	chr2:35969674-35969675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113850815	chr2:35969752-35969753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573894105	chr2:35969770-35969771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76028072	chr2:35969812-35969813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559815171	chr2:35969836-35969837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190407720	chr2:35969857-35969858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527741239	chr2:35969890-35969891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374581372	chr2:35969903-35969904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183003864	chr2:35969931-35969932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549488435	chr2:35969932-35969933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567794308	chr2:35969941-35969942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563774348	chr2:35969956-35969957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531093038	chr2:35969988-35969989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186963352	chr2:35970032-35970033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147182289	chr2:35970036-35970037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34091903	chr2:35970081-35970082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140509765	chr2:35970085-35970086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191858868	chr2:35970086-35970087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539070544	chr2:35970089-35970090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182608186	chr2:35970093-35970094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376610139	chr2:35970131-35970132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60837011	chr2:35970146-35970147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537243595	chr2:35970155-35970156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145446306	chr2:35970166-35970167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187618825	chr2:35970209-35970210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541373261	chr2:35970217-35970218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557481952	chr2:35970239-35970240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553324535	chr2:35970247-35970248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547683077	chr2:35970261-35970262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10189297	chr2:35970329-35970330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555030011	chr2:35970379-35970380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573685425	chr2:35970386-35970387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193227779	chr2:35970434-35970435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147704357	chr2:35970443-35970444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185476365	chr2:35970488-35970489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543182559	chr2:35970514-35970515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149779958	chr2:35970536-35970537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528674550	chr2:35970549-35970550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546863874	chr2:35970568-35970569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57995045	chr2:35970644-35970645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532728752	chr2:35970660-35970661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35963800-35971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:35963800-35972000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:35971600-35972000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:35972000-35972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:35977000-35977200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:35977200-35980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:35980000-35984600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35984600-35985000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35985000-35986600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35986600-35987000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35987000-35990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:35990600-35991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35997000-36004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:36004600-36005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:36005600-36008000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:36008000-36008600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:36008600-36009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:36008600-36009400	Enhancers	A549	lung
19	chr2:36009000-36009200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:36009200-36011800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:36011800-36016600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:36012000-36012800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:36012200-36013200	Enhancers	HMEC	breast
24	chr2:36012800-36015200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:36013200-36020200	Weak transcription	HMEC	breast
26	chr2:36015200-36015600	Enhancers	Pancreas	Pancrea
27	chr2:36015200-36016000	Enhancers	NHEK	skin
28	chr2:36016000-36016400	Weak transcription	NHEK	skin
29	chr2:36016400-36016600	Enhancers	NHEK	skin
30	chr2:36016600-36017800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:36016600-36019400	Weak transcription	NHEK	skin
32	chr2:36017000-36018200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:36017200-36018400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:36017400-36018200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:36017400-36018400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:36017400-36018600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:36017800-36018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:36017800-36018400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:36017800-36019000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:36017800-36019200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:36018000-36018400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:36018000-36018400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:36018400-36019600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:36018400-36022800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:36019200-36021800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:36019400-36021000	Enhancers	NHEK	skin
47	chr2:36019600-36022800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:36019800-36020000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:36019800-36021000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:36020000-36020400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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