Variant report

Variant	nsv1035391
Chromosome Location	chr12:34482900-34730341
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

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

No data

Extended variants
information (count: 14653 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:14653 , 50 per page) page: 1 2 3 4 5 6 7 ... 294

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7306334	chr12:34482900-34482901	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576344718	chr12:34482901-34482902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7306435	chr12:34482933-34482934	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372543895	chr12:34482959-34482960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs138215073	chr12:34482989-34482990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577940084	chr12:34483088-34483089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560225586	chr12:34483107-34483108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74077335	chr12:34483112-34483113	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529393120	chr12:34483133-34483134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542816175	chr12:34483138-34483139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562735738	chr12:34483139-34483140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7309532	chr12:34483140-34483141	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527580715	chr12:34483145-34483146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186004173	chr12:34483161-34483162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs114000656	chr12:34483165-34483166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149532485	chr12:34483166-34483167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs34313796	chr12:34483179-34483180	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536335019	chr12:34483188-34483189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189245004	chr12:34483208-34483209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569845064	chr12:34483231-34483232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs116468053	chr12:34483239-34483240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558854980	chr12:34483252-34483253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572324599	chr12:34483279-34483280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7974620	chr12:34483315-34483316	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376205231	chr12:34483329-34483330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs11834525	chr12:34483331-34483332	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370952100	chr12:34483335-34483336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529018303	chr12:34483402-34483403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7310237	chr12:34483435-34483436	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143888977	chr12:34483470-34483471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7309931	chr12:34483471-34483472	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545213788	chr12:34483476-34483477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565412706	chr12:34483483-34483484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs527992334	chr12:34483507-34483508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547815001	chr12:34483597-34483598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs560934959	chr12:34483598-34483599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs529685042	chr12:34483620-34483621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549883934	chr12:34483626-34483627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569780429	chr12:34483634-34483635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538806964	chr12:34483635-34483636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552401391	chr12:34483696-34483697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148193520	chr12:34483697-34483698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111486120	chr12:34483704-34483705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534911441	chr12:34483729-34483730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182280413	chr12:34483739-34483740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs118147033	chr12:34483748-34483749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187275242	chr12:34483749-34483750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141227336	chr12:34483781-34483782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs556205501	chr12:34483797-34483798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376762840	chr12:34483810-34483811	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
3	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:34486200-34487000	Enhancers	K562	blood
7	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
8	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:34487000-34487800	Weak transcription	K562	blood
10	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
11	chr12:34487800-34488600	Active TSS	K562	blood
12	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
13	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
14	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:34488600-34488800	Flanking Active TSS	K562	blood
16	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr12:34488800-34489000	Active TSS	K562	blood
18	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
19	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
20	chr12:34489000-34490600	Flanking Active TSS	K562	blood
21	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
22	chr12:34490600-34490800	Enhancers	K562	blood
23	chr12:34490600-34491200	Bivalent Enhancer	A549	lung
24	chr12:34491400-34492600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:34491600-34492200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:34491600-34498400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:34492200-34492400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr12:34492200-34493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:34492400-34493200	Bivalent Enhancer	A549	lung
30	chr12:34492800-34496000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr12:34493200-34494200	Flanking Bivalent TSS/Enh	A549	lung
32	chr12:34493800-34494400	Bivalent Enhancer	Placenta	Placenta
33	chr12:34493800-34495000	Flanking Active TSS	K562	blood
34	chr12:34494000-34494400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:34494200-34494600	Bivalent/Poised TSS	A549	lung
36	chr12:34494600-34495800	Flanking Bivalent TSS/Enh	A549	lung
37	chr12:34495000-34496000	Active TSS	K562	blood
38	chr12:34495200-34499400	Bivalent Enhancer	Placenta	Placenta
39	chr12:34495800-34496000	Bivalent/Poised TSS	A549	lung
40	chr12:34496000-34496600	Active TSS	A549	lung
41	chr12:34496000-34497600	Weak transcription	K562	blood
42	chr12:34496600-34498400	Weak transcription	A549	lung
43	chr12:34497400-34512800	ZNF genes & repeats	Fetal Stomach	stomach
44	chr12:34497600-34499000	Enhancers	K562	blood
45	chr12:34498400-34499200	Bivalent/Poised TSS	HepG2	liver
46	chr12:34498400-34500800	Active TSS	A549	lung
47	chr12:34498600-34504400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr12:34498800-34500200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr12:34499000-34499800	Flanking Active TSS	K562	blood
50	chr12:34499200-34500000	Flanking Bivalent TSS/Enh	HepG2	liver

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