Variant report

Variant	nsv1047463
Chromosome Location	chr12:34470362-34854486
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
2	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
3	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
4	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
5	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
6	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
7	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
8	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
9	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
10	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
11	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
12	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
13	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
14	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
15	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
16	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
17	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
18	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
19	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
20	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
21	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
22	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
23	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
24	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
25	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
26	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
27	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
28	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
29	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
30	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
31	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
32	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
33	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
34	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
35	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
36	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:

No data

Extended variants
information (count: 25308 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:25308 , 50 per page) page: 1 2 3 4 5 6 7 ... 507

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58210842	chr12:34470364-34470365	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7489137	chr12:34470387-34470388	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570006495	chr12:34470394-34470395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs370622710	chr12:34470395-34470396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538236484	chr12:34470398-34470399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551824834	chr12:34470405-34470406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs7486505	chr12:34470406-34470407	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149355598	chr12:34470410-34470411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs114070524	chr12:34470441-34470442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574188375	chr12:34470450-34470451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs578180626	chr12:34470478-34470479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527928382	chr12:34470499-34470500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190625475	chr12:34470513-34470514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556439884	chr12:34470539-34470540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576356089	chr12:34470545-34470546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544589923	chr12:34470602-34470603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs144660066	chr12:34470603-34470604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561274900	chr12:34470615-34470616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572019904	chr12:34470623-34470624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541123280	chr12:34470631-34470632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs182864346	chr12:34470646-34470647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377136585	chr12:34470647-34470648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529889485	chr12:34470654-34470655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs80174842	chr12:34470655-34470656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142859039	chr12:34470658-34470659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374066780	chr12:34470689-34470690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532480386	chr12:34470690-34470691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139914737	chr12:34470717-34470718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs386762055	chr12:34470721-34470722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115190456	chr12:34470722-34470723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs55990161	chr12:34470732-34470733	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543365325	chr12:34470738-34470739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556373758	chr12:34470743-34470744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377198311	chr12:34470781-34470782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569980740	chr12:34470793-34470794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532452882	chr12:34470848-34470849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs538970380	chr12:34470880-34470881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558084958	chr12:34470884-34470885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146757297	chr12:34470901-34470902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs73103743	chr12:34470916-34470917	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185697347	chr12:34470917-34470918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs367677566	chr12:34470931-34470932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574473686	chr12:34470932-34470933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540726913	chr12:34470933-34470934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143817320	chr12:34470935-34470936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376151971	chr12:34470982-34470983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563487608	chr12:34470991-34470992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140373689	chr12:34471014-34471015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs546130952	chr12:34471019-34471020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559431399	chr12:34471027-34471028	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
6	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
10	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
11	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
15	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:34486200-34487000	Enhancers	K562	blood
17	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
18	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:34487000-34487800	Weak transcription	K562	blood
20	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
21	chr12:34487800-34488600	Active TSS	K562	blood
22	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
23	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
24	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:34488600-34488800	Flanking Active TSS	K562	blood
26	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr12:34488800-34489000	Active TSS	K562	blood
28	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
29	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
30	chr12:34489000-34490600	Flanking Active TSS	K562	blood
31	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
32	chr12:34490600-34490800	Enhancers	K562	blood
33	chr12:34490600-34491200	Bivalent Enhancer	A549	lung
34	chr12:34491400-34492600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:34491600-34492200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:34491600-34498400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:34492200-34492400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr12:34492200-34493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:34492400-34493200	Bivalent Enhancer	A549	lung
40	chr12:34492800-34496000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr12:34493200-34494200	Flanking Bivalent TSS/Enh	A549	lung
42	chr12:34493800-34494400	Bivalent Enhancer	Placenta	Placenta
43	chr12:34493800-34495000	Flanking Active TSS	K562	blood
44	chr12:34494000-34494400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr12:34494200-34494600	Bivalent/Poised TSS	A549	lung
46	chr12:34494600-34495800	Flanking Bivalent TSS/Enh	A549	lung
47	chr12:34495000-34496000	Active TSS	K562	blood
48	chr12:34495200-34499400	Bivalent Enhancer	Placenta	Placenta
49	chr12:34495800-34496000	Bivalent/Poised TSS	A549	lung
50	chr12:34496000-34496600	Active TSS	A549	lung

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