Variant report

Variant	nsv584315
Chromosome Location	chr2:212244520-212276710
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212242066..212245151-chr2:212271494..212274404,3	MCF-7	breast:
2	chr2:212241135..212244120-chr2:212267640..212269508,2	MCF-7	breast:
3	chr2:212253910..212256658-chr2:212257383..212259905,2	MCF-7	breast:
4	chr2:212265066..212266731-chr2:212291564..212294489,2	MCF-7	breast:
5	chr2:212269284..212272087-chr2:212272450..212275433,2	MCF-7	breast:
6	chr2:212192196..212193825-chr2:212271514..212273497,2	MCF-7	breast:
7	chr2:212263390..212265128-chr2:212269573..212272489,2	MCF-7	breast:
8	chr2:212242066..212245151-chr2:212271494..212274404,3	MCF-7	breast:
9	chr2:212263390..212265128-chr2:212269573..212272489,2	MCF-7	breast:
10	chr2:212258790..212260416-chr2:212272383..212274014,2	MCF-7	breast:
11	chr2:212258790..212260416-chr2:212272383..212274014,2	MCF-7	breast:
12	chr2:212272741..212273872-chr2:212287513..212288333,3	MCF-7	breast:
13	chr2:212273255..212274799-chr2:212286718..212289197,2	MCF-7	breast:
14	chr2:212269284..212272087-chr2:212272450..212275433,2	MCF-7	breast:
15	chr2:212253910..212256658-chr2:212257383..212259905,2	MCF-7	breast:

No data

(count:4 , 50 per page) page: 1

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

Extended variants
information (count: 1244 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17744862	chr2:212244520-212244521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201543392	chr2:212244525-212244526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563015496	chr2:212244579-212244580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373018738	chr2:212244580-212244581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376338574	chr2:212244585-212244586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371377828	chr2:212244587-212244588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374594838	chr2:212244592-212244593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376153859	chr2:212244597-212244598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370788542	chr2:212244598-212244599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12467225	chr2:212244657-212244658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115993927	chr2:212244666-212244667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184394338	chr2:212244699-212244700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527478894	chr2:212244703-212244704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547293171	chr2:212244704-212244705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12471583	chr2:212244718-212244719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539064598	chr2:212244749-212244750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200338466	chr2:212244760-212244761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201241931	chr2:212244761-212244762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202225583	chr2:212244762-212244763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554512524	chr2:212244782-212244783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148911552	chr2:212244813-212244814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569612866	chr2:212244889-212244890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535232847	chr2:212244892-212244893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555428579	chr2:212244893-212244894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574978294	chr2:212244910-212244911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1836724	chr2:212244952-212244953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs374378594	chr2:212245089-212245090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200956423	chr2:212245090-212245091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71774919	chr2:212245091-212245092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6147150	chr2:212245092-212245093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201405484	chr2:212245107-212245108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546239717	chr2:212245208-212245209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539948404	chr2:212245231-212245232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562771673	chr2:212245234-212245235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576369477	chr2:212245246-212245247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114956634	chr2:212245283-212245284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12475523	chr2:212245284-212245285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374432402	chr2:212245333-212245334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557968261	chr2:212245357-212245358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140434825	chr2:212245391-212245392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547157064	chr2:212245436-212245437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564063722	chr2:212245453-212245454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576233637	chr2:212245459-212245460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4672612	chr2:212245489-212245490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs77371691	chr2:212245590-212245591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199547629	chr2:212245683-212245684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73083842	chr2:212245704-212245705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189277703	chr2:212245720-212245721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562489105	chr2:212245721-212245722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565427049	chr2:212245746-212245747	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:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212237600-212248200	Weak transcription	Aorta	Aorta
2	chr2:212242000-212246600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212244000-212254800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:212244200-212253800	Weak transcription	Fetal Heart	heart
5	chr2:212244400-212244800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:212244400-212245200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:212245200-212247000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:212245800-212256800	Weak transcription	Psoas Muscle	Psoas
9	chr2:212246600-212247800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:212246800-212255400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:212247000-212248000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:212247200-212249600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:212247800-212248200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:212248000-212255200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:212248200-212248400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:212248200-212248800	Strong transcription	Aorta	Aorta
17	chr2:212248400-212248800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:212248400-212248800	ZNF genes & repeats	Pancreas	Pancrea
19	chr2:212248800-212249600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:212248800-212250600	Weak transcription	Aorta	Aorta
21	chr2:212248800-212252200	Weak transcription	Pancreas	Pancrea
22	chr2:212249600-212250200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:212250200-212250400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:212250400-212252000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:212251200-212254800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:212251400-212251800	Enhancers	HUVEC	blood vessel
27	chr2:212252000-212254800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:212252600-212255400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:212252800-212253200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:212253200-212253400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:212253200-212255200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:212253200-212255400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:212254600-212255000	Enhancers	Brain Substantia Nigra	brain
34	chr2:212254800-212255000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:212254800-212255200	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:212254800-212255400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:212254800-212255400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:212254800-212256400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:212255000-212255200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr2:212255000-212256000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:212255000-212256000	Active TSS	Brain Hippocampus Middle	brain
42	chr2:212255000-212256400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:212255000-212256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:212255200-212255400	Enhancers	Brain Germinal Matrix	brain
45	chr2:212255200-212255600	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr2:212255200-212256000	Enhancers	Brain Substantia Nigra	brain
47	chr2:212255200-212256200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:212255200-212256200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:212255200-212256400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:212255200-212256400	Enhancers	Fetal Brain Female	brain

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