Variant report

Variant	nsv1003775
Chromosome Location	chr2:155594933-155780009
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:155773697..155776086-chr2:155779946..155784271,4	MCF-7	breast:
2	chr2:155666309..155667833-chr2:155758051..155760476,2	K562	blood:
3	chr2:155715166..155716863-chr2:155719889..155722676,2	K562	blood:
4	chr2:155764845..155767710-chr2:155821306..155824057,2	MCF-7	breast:
5	chr2:155715166..155716863-chr2:155719889..155722676,2	K562	blood:
6	chr17:71307527..71308047-chr2:155616419..155617016,2	MCF-7	breast:
7	chr2:155662429..155664232-chr2:155668353..155670172,2	K562	blood:
8	chr2:155652277..155652785-chr3:132459006..132459678,2	K562	blood:
9	chr2:155666309..155667833-chr2:155758051..155760476,2	K562	blood:
10	chr2:155773697..155776086-chr2:155779946..155784271,4	MCF-7	breast:
11	chr2:155662429..155664232-chr2:155668353..155670172,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPRM-10	chr2:155618907-155619058	l_1971_chr2:155618906-155789245_testes

No data

Variant related genes	Relation type
ENSG00000179604	chromatin interactions

Extended variants
information (count: 5089 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:5089 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3111007	chr2:155594933-155594934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372029144	chr2:155594986-155594987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565840656	chr2:155594988-155594989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11886798	chr2:155595039-155595040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551674914	chr2:155595061-155595062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149378442	chr2:155595117-155595118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573088973	chr2:155595188-155595189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375685974	chr2:155595195-155595196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545476618	chr2:155596873-155596874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565382933	chr2:155596889-155596890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530590367	chr2:155596900-155596901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193041664	chr2:155596942-155596943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544409512	chr2:155596979-155596980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370487332	chr2:155597018-155597019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560956544	chr2:155597041-155597042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529915459	chr2:155597187-155597188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373241204	chr2:155597189-155597190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375718541	chr2:155602211-155602212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138982360	chr2:155602258-155602259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527642955	chr2:155602266-155602267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375255504	chr2:155602312-155602313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80318805	chr2:155602367-155602368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62170796	chr2:155602399-155602400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73968722	chr2:155602404-155602405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531605283	chr2:155602437-155602438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550287968	chr2:155602447-155602448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73019291	chr2:155602598-155602599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543083665	chr2:155602603-155602604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143777203	chr2:155602640-155602641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7593233	chr2:155602656-155602657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549268869	chr2:155602714-155602715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565966252	chr2:155602750-155602751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534946563	chr2:155602756-155602757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183487778	chr2:155602771-155602772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577610810	chr2:155602816-155602817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375899752	chr2:155602821-155602822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13399522	chr2:155602828-155602829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557022756	chr2:155602838-155602839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370041890	chr2:155602844-155602845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555614259	chr2:155602870-155602871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542032922	chr2:155602908-155602909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371426964	chr2:155602956-155602957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188609651	chr2:155603099-155603100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572382728	chr2:155603111-155603112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531527278	chr2:155603112-155603113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146338972	chr2:155603122-155603123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113977411	chr2:155603138-155603139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200195163	chr2:155603139-155603140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202179900	chr2:155603140-155603141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59587484	chr2:155603142-155603143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Mental retardation	19156171	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Tetralogy of Fallot	22912587	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:155573800-155595200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:155596800-155597200	Enhancers	Fetal Heart	heart
3	chr2:155602200-155602600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:155602600-155603800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:155604000-155604200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:155604200-155606800	Weak transcription	Liver	Liver
7	chr2:155611800-155612800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:155618800-155619000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr2:155618800-155619000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr2:155619400-155619600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr2:155619600-155619800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr2:155628400-155629200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:155632600-155634400	Enhancers	Fetal Brain Male	brain
14	chr2:155634800-155635000	Enhancers	Brain Germinal Matrix	brain
15	chr2:155636800-155637200	Enhancers	Brain Angular Gyrus	brain
16	chr2:155636800-155637600	Enhancers	Brain Substantia Nigra	brain
17	chr2:155636800-155637800	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:155636800-155637800	Enhancers	Brain Germinal Matrix	brain
19	chr2:155637000-155637600	Enhancers	Brain Anterior Caudate	brain
20	chr2:155637000-155637600	Enhancers	Brain Hippocampus Middle	brain
21	chr2:155637200-155637600	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr2:155637600-155637800	Enhancers	Brain Angular Gyrus	brain
23	chr2:155641800-155642000	ZNF genes & repeats	Aorta	Aorta
24	chr2:155642000-155658800	Weak transcription	Aorta	Aorta
25	chr2:155643800-155644000	Enhancers	Pancreas	Pancrea
26	chr2:155644000-155647200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:155644000-155648600	Weak transcription	Pancreas	Pancrea
28	chr2:155645400-155645600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:155645600-155647800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:155647200-155647600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:155647600-155648800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:155647800-155648000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:155648000-155648800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:155648000-155650400	Enhancers	Fetal Brain Male	brain
35	chr2:155648200-155649200	Enhancers	Fetal Brain Female	brain
36	chr2:155648600-155649000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:155648600-155649000	Enhancers	Pancreas	Pancrea
38	chr2:155648600-155649200	Enhancers	Brain Angular Gyrus	brain
39	chr2:155648800-155649200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr2:155648800-155649600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:155649200-155650000	Weak transcription	Fetal Brain Female	brain
42	chr2:155649200-155651200	Weak transcription	Brain Angular Gyrus	brain
43	chr2:155649200-155662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:155650200-155650400	Enhancers	Fetal Brain Female	brain
45	chr2:155650400-155651200	Weak transcription	Fetal Brain Male	brain
46	chr2:155651000-155651600	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:155651000-155651600	Enhancers	Brain Hippocampus Middle	brain
48	chr2:155651200-155651600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:155651200-155651600	Enhancers	Brain Angular Gyrus	brain
50	chr2:155651200-155651600	Enhancers	Fetal Brain Male	brain

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