Variant report

Variant	nsv875778
Chromosome Location	chr2:212297838-212360994
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212320246..212322831-chr2:212376794..212379145,2	MCF-7	breast:
2	chr2:212352611..212354767-chr2:212356529..212358511,2	MCF-7	breast:
3	chr2:212293615..212295597-chr2:212299966..212301687,2	MCF-7	breast:
4	chr2:212349648..212351176-chr2:212354643..212357480,2	MCF-7	breast:
5	chr2:212318807..212321033-chr2:212328093..212330095,2	MCF-7	breast:
6	chr2:212290669..212293299-chr2:212299523..212302386,3	MCF-7	breast:
7	chr2:212328628..212332038-chr2:212332518..212335674,3	MCF-7	breast:
8	chr2:212300211..212302596-chr2:212303627..212305384,3	MCF-7	breast:
9	chr2:212300211..212302596-chr2:212303627..212305384,3	MCF-7	breast:
10	chr2:212318807..212321033-chr2:212328093..212330095,2	MCF-7	breast:
11	chr2:212138119..212140706-chr2:212301940..212304830,2	MCF-7	breast:
12	chr17:57933020..57935872-chr2:212325257..212328116,2	MCF-7	breast:
13	chr2:212352611..212354767-chr2:212356529..212358511,2	MCF-7	breast:
14	chr2:212328628..212332038-chr2:212332518..212335674,3	MCF-7	breast:
15	chr2:212292912..212295358-chr2:212296478..212299091,2	MCF-7	breast:
16	chr2:212287546..212288501-chr2:212299663..212300619,3	MCF-7	breast:
17	chr2:212287473..212288501-chr2:212299594..212300619,4	MCF-7	breast:
18	chr2:212349648..212351176-chr2:212354643..212357480,2	MCF-7	breast:

No data

Extended variants
information (count: 2402 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2402 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16846161	chr2:212297838-212297839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539236009	chr2:212297854-212297855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150923303	chr2:212297877-212297878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557660869	chr2:212297878-212297879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116403886	chr2:212297902-212297903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576860146	chr2:212297910-212297911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546093139	chr2:212297932-212297933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574513094	chr2:212297941-212297942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188646710	chr2:212297970-212297971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140708134	chr2:212298029-212298030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116412631	chr2:212298030-212298031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112504320	chr2:212298033-212298034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376677330	chr2:212298034-212298035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370790087	chr2:212298044-212298045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149735475	chr2:212298045-212298046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184498673	chr2:212298055-212298056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568313300	chr2:212298061-212298062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145670222	chr2:212298148-212298149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547368273	chr2:212298178-212298179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528806542	chr2:212298179-212298180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561320354	chr2:212298198-212298199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371461330	chr2:212298211-212298212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112412919	chr2:212298233-212298234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554968438	chr2:212298256-212298257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182449179	chr2:212298262-212298263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368057941	chr2:212298293-212298294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575727074	chr2:212298299-212298300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143672010	chr2:212298301-212298302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201231678	chr2:212298307-212298308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13384614	chr2:212298311-212298312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114175105	chr2:212298324-212298325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574750366	chr2:212298335-212298336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540278144	chr2:212298338-212298339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560105121	chr2:212298394-212298395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373702678	chr2:212298403-212298404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148876372	chr2:212298404-212298405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545960093	chr2:212298414-212298415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562973477	chr2:212298531-212298532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540325313	chr2:212298547-212298548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146991556	chr2:212298617-212298618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139125629	chr2:212298618-212298619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113679489	chr2:212298659-212298660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372774135	chr2:212298671-212298672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547453701	chr2:212298699-212298700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117589750	chr2:212298729-212298730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187135093	chr2:212298747-212298748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75238341	chr2:212298778-212298779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538064523	chr2:212298779-212298780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555142218	chr2:212298827-212298828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568454994	chr2:212298900-212298901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212281600-212301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:212288200-212302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:212299400-212300000	Weak transcription	Fetal Heart	heart
4	chr2:212299400-212300400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:212299800-212300200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:212300000-212300800	Enhancers	Fetal Heart	heart
7	chr2:212300000-212301400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:212300200-212300600	Enhancers	Aorta	Aorta
9	chr2:212300600-212300800	Weak transcription	Aorta	Aorta
10	chr2:212300800-212301200	Enhancers	Aorta	Aorta
11	chr2:212301000-212301400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:212301200-212301400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:212301800-212302000	Enhancers	HUVEC	blood vessel
14	chr2:212302200-212302400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:212302200-212302400	Weak transcription	HUVEC	blood vessel
16	chr2:212302400-212302800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:212302400-212302800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:212302600-212302800	Enhancers	HUVEC	blood vessel
19	chr2:212302600-212303000	Enhancers	Brain Substantia Nigra	brain
20	chr2:212302800-212303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:212302800-212303000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:212302800-212303600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:212303000-212304000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:212303000-212305000	Weak transcription	Brain Substantia Nigra	brain
25	chr2:212303000-212313400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:212303600-212304600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:212303800-212304200	Enhancers	Brain Anterior Caudate	brain
28	chr2:212304000-212304400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:212304600-212317800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:212305000-212305200	Enhancers	Brain Substantia Nigra	brain
31	chr2:212306400-212311600	Weak transcription	Aorta	Aorta
32	chr2:212310600-212311000	Enhancers	HUVEC	blood vessel
33	chr2:212313400-212314600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:212315800-212316400	Enhancers	Fetal Lung	lung
35	chr2:212316200-212316400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:212316400-212319600	Weak transcription	Fetal Lung	lung
37	chr2:212317800-212320400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:212318200-212318400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:212318400-212319400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:212319000-212319400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr2:212319200-212319600	Enhancers	Brain Hippocampus Middle	brain
42	chr2:212319200-212320000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:212319200-212320400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:212319400-212319600	Enhancers	Brain Anterior Caudate	brain
45	chr2:212319400-212319800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr2:212319400-212319800	Enhancers	Pancreas	Pancrea
47	chr2:212319400-212320200	Enhancers	Brain Germinal Matrix	brain
48	chr2:212319400-212320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:212319400-212320400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:212319600-212319800	Flanking Active TSS	Brain Hippocampus Middle	brain

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