Variant report

Variant	nsv899553
Chromosome Location	chr12:119837250-119876571
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:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:119850295..119851264-chr12:119982488..119983086,2	MCF-7	breast:
2	chr12:119765671..119766355-chr12:119850911..119851698,3	K562	blood:
3	chr12:119633765..119636889-chr12:119849565..119852732,3	MCF-7	breast:
4	chr12:119552810..119553329-chr12:119850727..119851485,3	K562	blood:
5	chr12:119458483..119459134-chr12:119850426..119851166,2	MCF-7	breast:
6	chr12:119856526..119857034-chr12:119982637..119983547,2	MCF-7	breast:
7	chr12:119861971..119864906-chr12:119864949..119866973,2	K562	blood:
8	chr12:119616454..119617961-chr12:119842773..119844959,2	MCF-7	breast:
9	chr12:119856554..119857225-chr12:120086612..120087366,2	MCF-7	breast:
10	chr12:119151694..119152462-chr12:119850745..119851652,2	MCF-7	breast:
11	chr12:119417235..119417851-chr12:119850790..119851632,2	K562	blood:
12	chr12:119861971..119864906-chr12:119864949..119866973,2	K562	blood:
13	chr12:119458269..119459265-chr12:119850713..119851633,4	K562	blood:
14	chr12:119858170..119861303-chr12:119864595..119866483,3	K562	blood:
15	chr12:119858170..119861303-chr12:119864595..119866483,3	K562	blood:
16	chr12:119552855..119553752-chr12:119850687..119851631,3	MCF-7	breast:
17	chr12:119765655..119766458-chr12:119850699..119851560,2	MCF-7	breast:
18	chr12:119615640..119617708-chr12:119848864..119850771,2	MCF-7	breast:
19	chr12:119850762..119851328-chr12:119881955..119882815,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPB8-7	chr12:119866488-119866567	NONHSAT031079
2	lnc-HSPB8-7	chr12:119867381-119867531	NONHSAT031079

No data

Variant related genes	Relation type
ENSG00000152137	chromatin interactions

Extended variants
information (count: 1349 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1349 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11064774	chr12:119837250-119837251	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569810268	chr12:119837257-119837258	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534483101	chr12:119837261-119837262	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558572848	chr12:119837294-119837295	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572036506	chr12:119837328-119837329	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370115342	chr12:119837338-119837339	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185114783	chr12:119837408-119837409	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574309027	chr12:119837421-119837422	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543302068	chr12:119837439-119837440	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146587423	chr12:119837486-119837487	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113473698	chr12:119837488-119837489	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374884354	chr12:119837516-119837517	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142559734	chr12:119837530-119837531	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551472318	chr12:119837548-119837549	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114915355	chr12:119837561-119837562	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189872435	chr12:119837633-119837634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556009602	chr12:119837643-119837644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547890642	chr12:119837655-119837656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567087480	chr12:119837660-119837661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536052814	chr12:119837701-119837702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144685685	chr12:119837730-119837731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569612993	chr12:119837732-119837733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538589205	chr12:119837821-119837822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550702095	chr12:119837853-119837854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397968662	chr12:119837872-119837873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180819473	chr12:119837877-119837878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573307086	chr12:119837881-119837882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111827755	chr12:119837883-119837884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12303099	chr12:119837911-119837912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192213029	chr12:119837917-119837918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183534816	chr12:119837935-119837936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574236330	chr12:119837946-119837947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113285865	chr12:119837947-119837948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573980487	chr12:119837957-119837958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370568481	chr12:119837985-119837986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563113324	chr12:119837999-119838000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576790351	chr12:119838002-119838003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113555553	chr12:119838011-119838012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548911385	chr12:119838021-119838022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369154809	chr12:119838027-119838028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375090881	chr12:119838033-119838034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11610334	chr12:119838044-119838045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576473106	chr12:119838056-119838057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527700291	chr12:119838058-119838059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541124056	chr12:119838090-119838091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561052168	chr12:119838095-119838096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541905858	chr12:119838101-119838102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188482935	chr12:119838121-119838122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191234528	chr12:119838133-119838134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562094649	chr12:119838134-119838135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119834400-119850800	Weak transcription	Right Ventricle	heart
2	chr12:119836000-119837600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:119837000-119837800	Enhancers	Fetal Lung	lung
4	chr12:119837200-119837600	Enhancers	Fetal Muscle Trunk	muscle
5	chr12:119837200-119837800	Enhancers	Fetal Muscle Leg	muscle
6	chr12:119842600-119842800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:119843000-119847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:119844200-119844400	Enhancers	Stomach Smooth Muscle	stomach
9	chr12:119844200-119845000	Enhancers	Fetal Heart	heart
10	chr12:119844400-119847200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:119844600-119845000	Enhancers	Left Ventricle	heart
12	chr12:119844600-119845000	Enhancers	Lung	lung
13	chr12:119845000-119848200	Weak transcription	Fetal Heart	heart
14	chr12:119845000-119849600	Weak transcription	Lung	lung
15	chr12:119846000-119846400	Enhancers	Colon Smooth Muscle	Colon
16	chr12:119846000-119847000	Enhancers	Rectal Smooth Muscle	rectum
17	chr12:119846400-119846800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:119846800-119847000	Enhancers	Colon Smooth Muscle	Colon
19	chr12:119847000-119849400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:119847000-119849600	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:119847200-119847400	Enhancers	Stomach Smooth Muscle	stomach
22	chr12:119847400-119851000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:119847800-119848000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:119847800-119848400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:119847800-119848600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:119848000-119848600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:119848200-119848400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:119848200-119848400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:119848200-119848400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:119848200-119848400	Enhancers	Placenta	Placenta
31	chr12:119848200-119848600	Enhancers	Fetal Heart	heart
32	chr12:119848200-119849200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:119848400-119848600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:119848400-119850000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:119848400-119850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:119848600-119848800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:119848600-119849400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:119848600-119849400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:119848600-119849600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:119848600-119849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:119848600-119853000	Weak transcription	Placenta	Placenta
42	chr12:119849000-119849800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:119849400-119850600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:119849400-119850600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:119849400-119851600	Enhancers	Rectal Smooth Muscle	rectum
46	chr12:119849600-119849800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:119849600-119851000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr12:119849600-119851200	Enhancers	Colon Smooth Muscle	Colon
49	chr12:119849600-119851600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:119849800-119850400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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