Variant report

Variant	nsv875776
Chromosome Location	chr2:212196908-212264818
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212258790..212260416-chr2:212272383..212274014,2	MCF-7	breast:
2	chr2:212194362..212196921-chr2:212198179..212200308,2	MCF-7	breast:
3	chr2:212200074..212202618-chr2:212203721..212206194,2	MCF-7	breast:
4	chr2:212263390..212265128-chr2:212269573..212272489,2	MCF-7	breast:
5	chr2:212241135..212244120-chr2:212267640..212269508,2	MCF-7	breast:
6	chr2:212235198..212236754-chr2:212238165..212239731,2	MCF-7	breast:
7	chr2:212229635..212231733-chr2:212236434..212239160,2	MCF-7	breast:
8	chr2:212200558..212203516-chr2:212212209..212214260,2	MCF-7	breast:
9	chr2:212209166..212212876-chr2:212215459..212218720,4	MCF-7	breast:
10	chr2:212209166..212212876-chr2:212215459..212218720,4	MCF-7	breast:
11	chr2:212242066..212245151-chr2:212271494..212274404,3	MCF-7	breast:
12	chr2:212253910..212256658-chr2:212257383..212259905,2	MCF-7	breast:
13	chr2:212229635..212231733-chr2:212236434..212239160,2	MCF-7	breast:
14	chr2:212193606..212195700-chr2:212198013..212199729,2	MCF-7	breast:
15	chr2:212200074..212202618-chr2:212203721..212206194,2	MCF-7	breast:
16	chr2:212253910..212256658-chr2:212257383..212259905,2	MCF-7	breast:
17	chr2:212235198..212236754-chr2:212238165..212239731,2	MCF-7	breast:
18	chr2:212200558..212203516-chr2:212212209..212214260,2	MCF-7	breast:
19	chr2:212194362..212196921-chr2:212198179..212200308,2	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	chr2:212246915-212246908
2	ERBB4	hsa-miR-19a-3p	chr2:212247260-212247254
3	ERBB4	hsa-miR-372-3p	chr2:212247257-212247251
4	ERBB4	hsa-miR-146a-5p	chr2:212240647-212240640
5	ERBB4	hsa-miR-302d-3p	chr2:212247257-212247251

Extended variants
information (count: 2357 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2357 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12614288	chr2:212196908-212196909	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202063210	chr2:212196994-212196995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200248081	chr2:212196995-212196996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201430558	chr2:212196996-212196997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs397987653	chr2:212197002-212197003	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557395024	chr2:212197013-212197014	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373292077	chr2:212197053-212197054	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574035624	chr2:212197125-212197126	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143473742	chr2:212197145-212197146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559283082	chr2:212197186-212197187	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs528408089	chr2:212197227-212197228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190569331	chr2:212197268-212197269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192340011	chr2:212197292-212197293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376248828	chr2:212197308-212197309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564540885	chr2:212197335-212197336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530395316	chr2:212197368-212197369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557484657	chr2:212197428-212197429	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs571285263	chr2:212197465-212197466	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs550418490	chr2:212197528-212197529	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs567387431	chr2:212197532-212197533	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs148036597	chr2:212197584-212197585	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs529731349	chr2:212197611-212197612	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs549599491	chr2:212197614-212197615	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs13015581	chr2:212197700-212197701	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11884737	chr2:212197720-212197721	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558461861	chr2:212197721-212197722	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs574876303	chr2:212197724-212197725	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs184501514	chr2:212197755-212197756	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs188911567	chr2:212197778-212197779	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs557059462	chr2:212197864-212197865	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs35602993	chr2:212197869-212197870	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs181288864	chr2:212197926-212197927	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs573897694	chr2:212197930-212197931	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs148010894	chr2:212197958-212197959	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs572652758	chr2:212197969-212197970	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs368654205	chr2:212197979-212197980	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs111620070	chr2:212198046-212198047	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs564802578	chr2:212198057-212198058	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs189245776	chr2:212198206-212198207	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs541580970	chr2:212198224-212198225	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs530698033	chr2:212198246-212198247	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs180837537	chr2:212198256-212198257	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs559614853	chr2:212198299-212198300	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs560717749	chr2:212198316-212198317	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs529806664	chr2:212198402-212198403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546332096	chr2:212198408-212198409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566299579	chr2:212198426-212198427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146206477	chr2:212198438-212198439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35703194	chr2:212198439-212198440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528663310	chr2:212198458-212198459	Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	18990708	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212193600-212198200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:212194200-212199000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:212194800-212199000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:212195400-212198400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:212195400-212199000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:212196000-212197600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:212196200-212197000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:212196200-212197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:212196400-212197600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:212196600-212197000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:212196600-212197800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:212196600-212198200	Weak transcription	Hela-S3	cervix
13	chr2:212196800-212198200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:212197000-212197200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:212197000-212198400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:212197000-212199000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:212197200-212197400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:212197400-212198400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr2:212197600-212198200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:212198200-212198400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:212198200-212199000	Enhancers	Hela-S3	cervix
22	chr2:212198400-212198600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:212198400-212198600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:212198400-212198600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:212198400-212199200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:212198600-212198800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:212199000-212200000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:212200000-212200200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:212206400-212206600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:212206400-212209800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:212206600-212209600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:212208200-212208400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:212208200-212208400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:212208400-212209800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:212208600-212210400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:212209600-212210800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:212209600-212211200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:212209800-212210000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:212209800-212210800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:212210000-212210400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:212210400-212210800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:212210400-212210800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:212210800-212211600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:212211200-212212000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:212212000-212212400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr2:212213600-212214000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:212213600-212214200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:212213600-212214200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:212213800-212214000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:212213800-212214200	Enhancers	Cortex derived primary cultured neurospheres	brain

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