Variant report

Variant	nsv1045265
Chromosome Location	chr12:34455559-34578286
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
2	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
3	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
4	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
5	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
6	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
7	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
8	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
9	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
10	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
11	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
12	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
13	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
14	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
15	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
16	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
17	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
18	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
19	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
20	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
21	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
22	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
23	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
24	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
25	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
26	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:

No data

Extended variants
information (count: 8536 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:8536 , 50 per page) page: 1 2 3 4 5 6 7 ... 171

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372936297	chr12:34455584-34455585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs531874643	chr12:34455591-34455592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190889643	chr12:34455613-34455614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540296956	chr12:34455653-34455654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370808307	chr12:34455667-34455668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550107017	chr12:34455688-34455689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529034883	chr12:34455704-34455705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs374070670	chr12:34455717-34455718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146289247	chr12:34455743-34455744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531489067	chr12:34455748-34455749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551293193	chr12:34455780-34455781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112082598	chr12:34455804-34455805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs61505938	chr12:34455839-34455840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533173847	chr12:34455867-34455868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546651754	chr12:34455874-34455875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs113908933	chr12:34455878-34455879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535992420	chr12:34455913-34455914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs555674564	chr12:34455930-34455931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536412304	chr12:34455939-34455940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538511049	chr12:34455942-34455943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554459396	chr12:34455974-34455975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558502494	chr12:34455982-34455983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577670762	chr12:34455986-34455987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533772363	chr12:34455993-34455994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553848170	chr12:34456071-34456072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370756684	chr12:34456101-34456102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs573642426	chr12:34456114-34456115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376019234	chr12:34456174-34456175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182330246	chr12:34456179-34456180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562520319	chr12:34456183-34456184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576210500	chr12:34456204-34456205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571261088	chr12:34456207-34456208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544871856	chr12:34456229-34456230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs34321988	chr12:34456255-34456256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs533113249	chr12:34456272-34456273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs141883586	chr12:34456327-34456328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs529355060	chr12:34456354-34456355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113220782	chr12:34456366-34456367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566065103	chr12:34456385-34456386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs11053202	chr12:34456389-34456390	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538448975	chr12:34456398-34456399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs139567846	chr12:34456425-34456426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571965106	chr12:34456433-34456434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185514523	chr12:34456439-34456440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs7485339	chr12:34456440-34456441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190430851	chr12:34456486-34456487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs149755360	chr12:34456502-34456503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538137273	chr12:34456546-34456547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs556241388	chr12:34456569-34456570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575794767	chr12:34456573-34456574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:34455000-34455800	ZNF genes & repeats	Colonic Mucosa	Colon
4	chr12:34455000-34456000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
9	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:34463600-34464000	Flanking Active TSS	K562	blood
11	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
12	chr12:34464000-34465800	Weak transcription	K562	blood
13	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr12:34465800-34467000	Enhancers	K562	blood
16	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
19	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
23	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
24	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
28	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:34486200-34487000	Enhancers	K562	blood
30	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
31	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:34487000-34487800	Weak transcription	K562	blood
33	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
34	chr12:34487800-34488600	Active TSS	K562	blood
35	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
36	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
37	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:34488600-34488800	Flanking Active TSS	K562	blood
39	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
40	chr12:34488800-34489000	Active TSS	K562	blood
41	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
42	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
43	chr12:34489000-34490600	Flanking Active TSS	K562	blood
44	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
45	chr12:34490600-34490800	Enhancers	K562	blood
46	chr12:34490600-34491200	Bivalent Enhancer	A549	lung
47	chr12:34491400-34492600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:34491600-34492200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:34491600-34498400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:34492200-34492400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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