Variant report

Variant	nsv536069
Chromosome Location	chr2:183511698-183571054
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:30)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183557913..183559489-chr2:183567582..183569465,2	K562	blood:
2	chr2:183571018..183573989-chr2:183580764..183583203,2	K562	blood:
3	chr2:183569800..183572698-chr2:183572719..183574437,2	MCF-7	breast:
4	chr2:183546308..183548876-chr2:183579294..183581951,2	MCF-7	breast:
5	chr2:183525253..183526981-chr2:183533807..183535350,2	K562	blood:
6	chr2:183515898..183518111-chr2:183519211..183521393,2	MCF-7	breast:
7	chr2:183562956..183565340-chr2:183578999..183580676,2	MCF-7	breast:
8	chr2:183568340..183570140-chr2:183571899..183573989,2	K562	blood:
9	chr2:183530500..183533463-chr2:183581172..183582687,2	MCF-7	breast:
10	chr2:183050946..183051551-chr2:183517788..183518340,2	MCF-7	breast:
11	chr2:183557913..183559489-chr2:183567582..183569465,2	K562	blood:
12	chr2:183105157..183107059-chr2:183513716..183516271,10	MCF-7	breast:
13	chr2:183568184..183572232-chr2:183575375..183579342,4	K562	blood:
14	chr2:183050662..183051405-chr2:183513747..183514396,3	MCF-7	breast:
15	chr2:183523433..183526191-chr2:183577944..183579909,2	MCF-7	breast:
16	chr2:183569888..183574492-chr2:183579294..183583506,5	MCF-7	breast:
17	chr2:183050633..183051569-chr2:183514775..183515804,6	K562	blood:
18	chr2:183165658..183166473-chr2:183513729..183514661,3	MCF-7	breast:
19	chr2:183533406..183536291-chr2:183538994..183541514,2	MCF-7	breast:
20	chr2:183516388..183518623-chr2:183519704..183522732,3	K562	blood:
21	chr2:183533406..183536291-chr2:183538994..183541514,2	MCF-7	breast:
22	chr2:183525253..183526981-chr2:183533807..183535350,2	K562	blood:
23	chr2:183051017..183051535-chr2:183513719..183514634,2	K562	blood:
24	chr2:183570034..183572518-chr2:183580411..183582264,3	K562	blood:
25	chr2:183516388..183518623-chr2:183519704..183522732,3	K562	blood:
26	chr2:183515898..183518111-chr2:183519211..183521393,2	MCF-7	breast:
27	chr2:183050932..183051609-chr2:183514883..183516080,4	MCF-7	breast:
28	chr2:183561976..183564805-chr2:183566522..183568031,2	K562	blood:
29	chr2:183561976..183564805-chr2:183566522..183568031,2	K562	blood:
30	chr2:183564408..183567308-chr2:183580527..183582877,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE1A-1	chr2:183537303-183537749	XLOC_002420
2	lnc-PDE1A-1	chr2:183536804-183536945	XLOC_002420
3	lnc-PDE1A-1	chr2:183539151-183539242	XLOC_002420
4	lnc-PDE1A-1	chr2:183537302-183537749	NONHSAT075911
5	lnc-PDE1A-1	chr2:183537303-183537749	XLOC_002420
6	lnc-PDE1A-1	chr2:183538117-183538135	XLOC_002420
7	lnc-PDE1A-1	chr2:183539150-183539242	NONHSAT075911
8	lnc-PDE1A-1	chr2:183537628-183537875	XLOC_002420
9	lnc-PDE1A-1	chr2:183536803-183536945	NONHSAT075909
10	lnc-PDE1A-1	chr2:183537627-183537875	NONHSAT075909
11	lnc-DNAJC10-3	chr2:183513193-183513418	NONHSAT075908

No data

Variant related genes	Relation type
ENSG00000077232	chromatin interactions
ENSG00000115252	chromatin interactions

Extended variants
information (count: 1172 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1172 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16823478	chr2:183511699-183511700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540825864	chr2:183511700-183511701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185874100	chr2:183511737-183511738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146267945	chr2:183511751-183511752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532312785	chr2:183511859-183511860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565886461	chr2:183511892-183511893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529728455	chr2:183511941-183511942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139543976	chr2:183511982-183511983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144200404	chr2:183511996-183511997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188128484	chr2:183512024-183512025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180975654	chr2:183512026-183512027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73033324	chr2:183512040-183512041	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs151073856	chr2:183512109-183512110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78009449	chr2:183512115-183512116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376485922	chr2:183512143-183512144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567108682	chr2:183512172-183512173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185389754	chr2:183512174-183512175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188442863	chr2:183512295-183512296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575694024	chr2:183512303-183512304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181242830	chr2:183512307-183512308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17356672	chr2:183512335-183512336	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186572872	chr2:183512352-183512353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13384475	chr2:183512390-183512391	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540383599	chr2:183512436-183512437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73975093	chr2:183512530-183512531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191861024	chr2:183512531-183512532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377530375	chr2:183512560-183512561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10204014	chr2:183512617-183512618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72051096	chr2:183512647-183512648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377625514	chr2:183512650-183512651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201627609	chr2:183512651-183512652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79030343	chr2:183512655-183512656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77582451	chr2:183512657-183512658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373277917	chr2:183512677-183512678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531186024	chr2:183512684-183512685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547828608	chr2:183512685-183512686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199789064	chr2:183512691-183512692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10180264	chr2:183512726-183512727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12105735	chr2:183512794-183512795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10204050	chr2:183512800-183512801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10204223	chr2:183512803-183512804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564714095	chr2:183512858-183512859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183843096	chr2:183512892-183512893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552885128	chr2:183512895-183512896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569620287	chr2:183512960-183512961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71427858	chr2:183512968-183512969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533712139	chr2:183512989-183512990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538236141	chr2:183513007-183513008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76645063	chr2:183513014-183513015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555014022	chr2:183513019-183513020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183509000-183513600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:183511800-183512400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:183513600-183513800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:183513600-183514200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:183513600-183514400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:183513600-183514400	Enhancers	Hela-S3	cervix
7	chr2:183513800-183514000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:183513800-183514200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:183514000-183514200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:183514000-183514200	Enhancers	Fetal Kidney	kidney
11	chr2:183514000-183514200	Enhancers	Osteobl	bone
12	chr2:183514000-183515000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:183514000-183515200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:183514200-183515200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:183514200-183515200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:183514200-183515200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:183514400-183514800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:183514400-183514800	Weak transcription	Hela-S3	cervix
19	chr2:183514800-183515600	Enhancers	Hela-S3	cervix
20	chr2:183514800-183516000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:183515000-183516000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:183515200-183515400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:183515200-183515400	Enhancers	Osteobl	bone
24	chr2:183515200-183515600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:183515200-183515600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:183515200-183516000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:183515400-183515600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:183515400-183515800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:183515400-183516000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:183515400-183516000	Enhancers	Brain Substantia Nigra	brain
31	chr2:183515600-183519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:183515800-183516000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:183516800-183517600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:183517000-183517400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:183519400-183520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:183519600-183520600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:183519800-183520800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:183520200-183520800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:183520200-183521000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:183520600-183521000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:183527800-183528200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:183529000-183529600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:183531400-183532000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:183531800-183532200	Enhancers	Primary B cells from peripheral blood	blood
45	chr2:183532400-183533200	Enhancers	HepG2	liver
46	chr2:183533000-183534000	Bivalent Enhancer	Dnd41	blood
47	chr2:183533200-183533600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:183533200-183533600	Flanking Active TSS	HepG2	liver
49	chr2:183533400-183533600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:183533400-183533800	Enhancers	Esophagus	oesophagus

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