Variant report

Variant	nsv584314
Chromosome Location	chr2:212238982-212292521
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212272741..212273872-chr2:212287513..212288333,3	MCF-7	breast:
2	chr2:212263390..212265128-chr2:212269573..212272489,2	MCF-7	breast:
3	chr2:212287473..212288501-chr2:212299594..212300619,4	MCF-7	breast:
4	chr2:212287546..212288501-chr2:212299663..212300619,3	MCF-7	breast:
5	chr2:212288710..212290756-chr2:212380740..212383126,2	MCF-7	breast:
6	chr2:212241135..212244120-chr2:212267640..212269508,2	MCF-7	breast:
7	chr2:212265066..212266731-chr2:212291564..212294489,2	MCF-7	breast:
8	chr2:212265066..212266731-chr2:212291564..212294489,2	MCF-7	breast:
9	chr2:212258790..212260416-chr2:212272383..212274014,2	MCF-7	breast:
10	chr2:212242066..212245151-chr2:212271494..212274404,3	MCF-7	breast:
11	chr2:212229635..212231733-chr2:212236434..212239160,2	MCF-7	breast:
12	chr2:212269284..212272087-chr2:212272450..212275433,2	MCF-7	breast:
13	chr2:212269284..212272087-chr2:212272450..212275433,2	MCF-7	breast:
14	chr2:212286937..212289642-chr2:212291657..212294876,4	MCF-7	breast:
15	chr2:212192196..212193825-chr2:212271514..212273497,2	MCF-7	breast:
16	chr2:212286106..212287792-chr2:212289650..212291629,2	MCF-7	breast:
17	chr2:212273255..212274799-chr2:212286718..212289197,2	MCF-7	breast:
18	chr2:212286106..212287792-chr2:212289650..212291629,2	MCF-7	breast:
19	chr2:212258790..212260416-chr2:212272383..212274014,2	MCF-7	breast:
20	chr2:212273255..212274799-chr2:212286718..212289197,2	MCF-7	breast:
21	chr2:212290669..212293299-chr2:212299523..212302386,3	MCF-7	breast:
22	chr2:212253910..212256658-chr2:212257383..212259905,2	MCF-7	breast:
23	chr2:212241135..212244120-chr2:212267640..212269508,2	MCF-7	breast:
24	chr2:212286937..212289642-chr2:212291657..212294876,4	MCF-7	breast:
25	chr2:212235198..212236754-chr2:212238165..212239731,2	MCF-7	breast:
26	chr2:212242066..212245151-chr2:212271494..212274404,3	MCF-7	breast:
27	chr2:212253910..212256658-chr2:212257383..212259905,2	MCF-7	breast:
28	chr2:212263390..212265128-chr2:212269573..212272489,2	MCF-7	breast:
29	chr2:212272741..212273872-chr2:212287513..212288333,3	MCF-7	breast:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ERBB4	hsa-miR-19a-3p	chr2:212247260-212247254
2	ERBB4	hsa-miR-146a-5p	chr2:212240647-212240640
3	ERBB4	hsa-miR-19a-3p	chr2:212246915-212246908
4	ERBB4	hsa-miR-372-3p	chr2:212247257-212247251
5	ERBB4	hsa-miR-302d-3p	chr2:212247257-212247251

Extended variants
information (count: 2094 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2094 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1821659	chr2:212238982-212238983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570350954	chr2:212239007-212239008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532953744	chr2:212239015-212239016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189744558	chr2:212239026-212239027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1821658	chr2:212239070-212239071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1836735	chr2:212239075-212239076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1836734	chr2:212239076-212239077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150778265	chr2:212239121-212239122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534448504	chr2:212239150-212239151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543753094	chr2:212239186-212239187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569905408	chr2:212239215-212239216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199795929	chr2:212239217-212239218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184118498	chr2:212239264-212239265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577553127	chr2:212239282-212239283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569296043	chr2:212239313-212239314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372757404	chr2:212239402-212239403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2887992	chr2:212239435-212239436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571231622	chr2:212239447-212239448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542230711	chr2:212239478-212239479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561968546	chr2:212239502-212239503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117456868	chr2:212239518-212239519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533888339	chr2:212239550-212239551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138788560	chr2:212239582-212239583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532965324	chr2:212239643-212239644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377646426	chr2:212239673-212239674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549522332	chr2:212239686-212239687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563255226	chr2:212239717-212239718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529145066	chr2:212239728-212239729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372542918	chr2:212239804-212239805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13013247	chr2:212239845-212239846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12989592	chr2:212239847-212239848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7595889	chr2:212239856-212239857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12989607	chr2:212239865-212239866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13013632	chr2:212239878-212239879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187142814	chr2:212239922-212239923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553862441	chr2:212239925-212239926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34588906	chr2:212239935-212239936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539764264	chr2:212239998-212239999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79955306	chr2:212240019-212240020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191980677	chr2:212240065-212240066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567351864	chr2:212240109-212240110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528171510	chr2:212240132-212240133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576688594	chr2:212240160-212240161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546226714	chr2:212240248-212240249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535806177	chr2:212240284-212240285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556019452	chr2:212240304-212240305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1971801	chr2:212240337-212240338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140905948	chr2:212240404-212240405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183411714	chr2:212240412-212240413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187160299	chr2:212240434-212240435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212237600-212248200	Weak transcription	Aorta	Aorta
2	chr2:212238800-212244400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:212240600-212240800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:212240800-212241400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:212241400-212241600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:212241600-212244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:212242000-212246600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:212243600-212244000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:212244000-212254800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:212244200-212253800	Weak transcription	Fetal Heart	heart
11	chr2:212244400-212244800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:212244400-212245200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:212245200-212247000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:212245800-212256800	Weak transcription	Psoas Muscle	Psoas
15	chr2:212246600-212247800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:212246800-212255400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:212247000-212248000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:212247200-212249600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:212247800-212248200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:212248000-212255200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:212248200-212248400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:212248200-212248800	Strong transcription	Aorta	Aorta
23	chr2:212248400-212248800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:212248400-212248800	ZNF genes & repeats	Pancreas	Pancrea
25	chr2:212248800-212249600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:212248800-212250600	Weak transcription	Aorta	Aorta
27	chr2:212248800-212252200	Weak transcription	Pancreas	Pancrea
28	chr2:212249600-212250200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:212250200-212250400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:212250400-212252000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:212251200-212254800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:212251400-212251800	Enhancers	HUVEC	blood vessel
33	chr2:212252000-212254800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:212252600-212255400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:212252800-212253200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:212253200-212253400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:212253200-212255200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:212253200-212255400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:212254600-212255000	Enhancers	Brain Substantia Nigra	brain
40	chr2:212254800-212255000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:212254800-212255200	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:212254800-212255400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:212254800-212255400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:212254800-212256400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:212255000-212255200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr2:212255000-212256000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:212255000-212256000	Active TSS	Brain Hippocampus Middle	brain
48	chr2:212255000-212256400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:212255000-212256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:212255200-212255400	Enhancers	Brain Germinal Matrix	brain

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