Variant report

Variant	nsv511506
Chromosome Location	chr12:32325010-32337187
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32317237..32319150-chr12:32328249..32330207,2	K562	blood:
2	chr12:32331886..32334489-chr12:32336141..32338880,2	MCF-7	breast:
3	chr12:32331693..32333915-chr12:32344800..32346339,2	MCF-7	breast:
4	chr12:32329357..32331933-chr12:32333033..32336522,3	K562	blood:
5	chr12:32308162..32310894-chr12:32324401..32326618,2	MCF-7	breast:
6	chr12:32330686..32332341-chr12:32334381..32336776,2	MCF-7	breast:
7	chr12:32319324..32321253-chr12:32328416..32330377,2	K562	blood:
8	chr12:32330903..32333479-chr12:32337570..32339472,2	MCF-7	breast:
9	chr12:32331886..32334489-chr12:32336141..32338880,2	MCF-7	breast:
10	chr12:32323730..32326324-chr12:32330475..32332808,2	MCF-7	breast:
11	chr12:32323730..32326324-chr12:32330475..32332808,2	MCF-7	breast:
12	chr12:32329357..32331933-chr12:32333033..32336522,3	K562	blood:
13	chr12:32330686..32332341-chr12:32334381..32336776,2	MCF-7	breast:

No data

Extended variants
information (count: 458 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11051829	chr12:32325010-32325011	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141863477	chr12:32325019-32325020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539583592	chr12:32325036-32325037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553001423	chr12:32325056-32325057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566502135	chr12:32325078-32325079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548984827	chr12:32325149-32325150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140387813	chr12:32325224-32325225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535722759	chr12:32325227-32325228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555337578	chr12:32325235-32325236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575515516	chr12:32325324-32325325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544028437	chr12:32325381-32325382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557938478	chr12:32325402-32325403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538142594	chr12:32325434-32325435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577704681	chr12:32325455-32325456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567089143	chr12:32325468-32325469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11051830	chr12:32325480-32325481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181013803	chr12:32325531-32325532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529217794	chr12:32325535-32325536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552626648	chr12:32325574-32325575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571529613	chr12:32325612-32325613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185988741	chr12:32325613-32325614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147026638	chr12:32325641-32325642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190512937	chr12:32325715-32325716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138328177	chr12:32325808-32325809	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571918076	chr12:32325834-32325835	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182441489	chr12:32325838-32325839	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113222567	chr12:32325882-32325883	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566587086	chr12:32325916-32325917	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535076118	chr12:32325928-32325929	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555342553	chr12:32325929-32325930	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569015598	chr12:32325943-32325944	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141879520	chr12:32325957-32325958	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542190430	chr12:32325979-32325980	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572183638	chr12:32325980-32325981	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80092722	chr12:32325990-32325991	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199900687	chr12:32325991-32325992	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145093947	chr12:32325998-32325999	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368751789	chr12:32325999-32326000	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557510603	chr12:32326019-32326020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369510486	chr12:32326048-32326049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577451490	chr12:32326049-32326050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536379286	chr12:32326055-32326056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191895004	chr12:32326137-32326138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182894646	chr12:32326168-32326169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574082982	chr12:32326175-32326176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542615904	chr12:32326220-32326221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562942723	chr12:32326230-32326231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150653252	chr12:32326235-32326236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545711945	chr12:32326250-32326251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138583408	chr12:32326251-32326252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	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	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
3	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
4	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:32300200-32336600	Weak transcription	A549	lung
7	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:32309400-32353400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:32309600-32336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:32309600-32346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:32309600-32351400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:32309600-32352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:32309800-32336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:32309800-32336600	Weak transcription	HMEC	breast
15	chr12:32313200-32325600	Weak transcription	Ovary	ovary
16	chr12:32313200-32336600	Weak transcription	NH-A	brain
17	chr12:32313400-32331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:32313600-32325600	Weak transcription	Osteobl	bone
20	chr12:32315000-32333000	Weak transcription	Right Atrium	heart
21	chr12:32315400-32346000	Weak transcription	Primary B cells from cord blood	blood
22	chr12:32315600-32336600	Weak transcription	HSMM	muscle
23	chr12:32316400-32334600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:32318000-32327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:32319800-32330800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:32319800-32331200	Weak transcription	Fetal Brain Female	brain
27	chr12:32319800-32340400	Weak transcription	Fetal Intestine Small	intestine
28	chr12:32319800-32343600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:32321400-32326000	Weak transcription	Fetal Stomach	stomach
30	chr12:32321600-32331600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:32323000-32325400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:32323000-32325600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:32323000-32325800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:32323200-32325800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:32323400-32325800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:32323600-32325800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:32324200-32325400	Weak transcription	Fetal Heart	heart
39	chr12:32324200-32325800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:32324200-32331200	Weak transcription	HSMMtube	muscle
41	chr12:32324400-32325800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:32324600-32325800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:32324600-32325800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr12:32324800-32325200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:32325000-32325800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:32325200-32325400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:32325200-32325400	Enhancers	Fetal Brain Male	brain
48	chr12:32325400-32325600	Enhancers	Brain Hippocampus Middle	brain
49	chr12:32325400-32325600	Enhancers	Fetal Heart	heart
50	chr12:32325400-32330800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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