Variant report

Variant	nsv1044510
Chromosome Location	chr12:34460029-34730341
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: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	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
2	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
3	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
4	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
5	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
6	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
7	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
8	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
9	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
10	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
11	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
12	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
13	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
14	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
15	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
16	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
17	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
18	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
19	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
20	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
21	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
22	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
23	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
24	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
25	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
26	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:

No data

Extended variants
information (count: 16250 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:16250 , 50 per page) page: 1 2 3 4 5 6 7 ... 325

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11053208	chr12:34460029-34460030	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144355476	chr12:34460041-34460042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191060845	chr12:34460057-34460058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538113415	chr12:34460073-34460074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564883680	chr12:34460082-34460083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561300461	chr12:34460114-34460115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543646694	chr12:34460134-34460135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574097490	chr12:34460138-34460139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543100891	chr12:34460141-34460142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562971541	chr12:34460153-34460154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs145407741	chr12:34460159-34460160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545607615	chr12:34460177-34460178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565371750	chr12:34460192-34460193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527963485	chr12:34460199-34460200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs149210221	chr12:34460204-34460205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532344165	chr12:34460228-34460229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs142279609	chr12:34460251-34460252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs182156959	chr12:34460259-34460260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs151244458	chr12:34460265-34460266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141677907	chr12:34460276-34460277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538389816	chr12:34460299-34460300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116873252	chr12:34460319-34460320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565757060	chr12:34460323-34460324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs186743751	chr12:34460325-34460326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7309608	chr12:34460352-34460353	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs74453733	chr12:34460376-34460377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536643613	chr12:34460399-34460400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556636091	chr12:34460432-34460433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375494385	chr12:34460471-34460472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191355508	chr12:34460472-34460473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs6488219	chr12:34460562-34460563	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572568919	chr12:34460583-34460584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs547769063	chr12:34460588-34460589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541670528	chr12:34460598-34460599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147062132	chr12:34460609-34460610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs530375477	chr12:34460614-34460615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549359280	chr12:34460633-34460634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs562980419	chr12:34460648-34460649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7295779	chr12:34460652-34460653	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551999548	chr12:34460668-34460669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73103722	chr12:34460678-34460679	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183851450	chr12:34460680-34460681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548410057	chr12:34460697-34460698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs568352136	chr12:34460700-34460701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138151665	chr12:34460710-34460711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs556573692	chr12:34460724-34460725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536748589	chr12:34460745-34460746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113400044	chr12:34460752-34460753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539089625	chr12:34460798-34460799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs36104744	chr12:34460818-34460819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
5	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:34463600-34464000	Flanking Active TSS	K562	blood
7	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr12:34464000-34465800	Weak transcription	K562	blood
9	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr12:34465800-34467000	Enhancers	K562	blood
12	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
15	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
19	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
20	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
24	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:34486200-34487000	Enhancers	K562	blood
26	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
27	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:34487000-34487800	Weak transcription	K562	blood
29	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
30	chr12:34487800-34488600	Active TSS	K562	blood
31	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
32	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
33	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:34488600-34488800	Flanking Active TSS	K562	blood
35	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr12:34488800-34489000	Active TSS	K562	blood
37	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
38	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
39	chr12:34489000-34490600	Flanking Active TSS	K562	blood
40	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
41	chr12:34490600-34490800	Enhancers	K562	blood
42	chr12:34490600-34491200	Bivalent Enhancer	A549	lung
43	chr12:34491400-34492600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:34491600-34492200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:34491600-34498400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:34492200-34492400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr12:34492200-34493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:34492400-34493200	Bivalent Enhancer	A549	lung
49	chr12:34492800-34496000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr12:34493200-34494200	Flanking Bivalent TSS/Enh	A549	lung

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