Variant report

Variant	nsv470267
Chromosome Location	chr12:11767406-11787989
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:11776574..11778214-chr12:11782212..11784019,2	K562	blood:
2	chr12:11734177..11734795-chr12:11775436..11776127,2	MCF-7	breast:
3	chr12:11774248..11776994-chr12:11784131..11786795,2	K562	blood:
4	chr12:11775387..11777781-chr12:11801742..11803423,2	MCF-7	breast:
5	chr12:11786758..11788608-chr12:11789783..11791585,2	K562	blood:
6	chr12:11783439..11785151-chr12:11787291..11788805,2	K562	blood:
7	chr12:11781998..11784337-chr12:11802587..11804174,2	MCF-7	breast:
8	chr12:11779951..11782126-chr12:11801049..11803377,2	MCF-7	breast:
9	chr12:11783439..11785151-chr12:11787291..11788805,2	K562	blood:
10	chr12:11776574..11778214-chr12:11782212..11784019,2	K562	blood:
11	chr12:11783936..11786293-chr12:11800798..11803656,2	MCF-7	breast:
12	chr12:11784813..11787611-chr12:11800177..11801948,2	MCF-7	breast:
13	chr12:11787806..11789368-chr12:11800871..11802843,2	MCF-7	breast:
14	chr12:11786072..11788465-chr12:11800287..11802406,2	K562	blood:
15	chr12:11743464..11745088-chr12:11772818..11775171,2	MCF-7	breast:
16	chr12:11774248..11776994-chr12:11784131..11786795,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139083	chromatin interactions

Extended variants
information (count: 857 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11054377	chr12:11767406-11767407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113442452	chr12:11767443-11767444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192003994	chr12:11767453-11767454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11054378	chr12:11767480-11767481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547177648	chr12:11767481-11767482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542363426	chr12:11767482-11767483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11054379	chr12:11767490-11767491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527982068	chr12:11767546-11767547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552931906	chr12:11767566-11767567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571245957	chr12:11767585-11767586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185074065	chr12:11767590-11767591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113758626	chr12:11767619-11767620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568885498	chr12:11767626-11767627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535971907	chr12:11767646-11767647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554738460	chr12:11767658-11767659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4763257	chr12:11767661-11767662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533817084	chr12:11767693-11767694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558458236	chr12:11767707-11767708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146483337	chr12:11767761-11767762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189533112	chr12:11767778-11767779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141045844	chr12:11767780-11767781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574836042	chr12:11767784-11767785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541999837	chr12:11767813-11767814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560735096	chr12:11767852-11767853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527920813	chr12:11767882-11767883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144859494	chr12:11767905-11767906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192838852	chr12:11767912-11767913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184371559	chr12:11767917-11767918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532043913	chr12:11767922-11767923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550507298	chr12:11767940-11767941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550554793	chr12:11767946-11767947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562383870	chr12:11767964-11767965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11054380	chr12:11767977-11767978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529790639	chr12:11767986-11767987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548010609	chr12:11767987-11767988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188182629	chr12:11768097-11768098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533707852	chr12:11768117-11768118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58524610	chr12:11768143-11768144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181974100	chr12:11768144-11768145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555407254	chr12:11768160-11768161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11835584	chr12:11768179-11768180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150284890	chr12:11768184-11768185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59053741	chr12:11768197-11768198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186361550	chr12:11768208-11768209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149482088	chr12:11768279-11768280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11054381	chr12:11768303-11768304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12319646	chr12:11768307-11768308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34419293	chr12:11768315-11768316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371042698	chr12:11768317-11768318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564676920	chr12:11768330-11768331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Cancer	17440070	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11756000-11768400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:11760800-11775600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:11763000-11768000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:11763000-11771400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:11763000-11773400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:11764000-11768400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:11764000-11768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:11764000-11770000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:11765000-11768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:11766000-11768400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:11766000-11770600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:11766000-11774800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:11766200-11771400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:11767000-11767600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:11767400-11768800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:11767600-11773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:11768000-11768200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:11768200-11768600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:11768200-11768600	Enhancers	Brain Anterior Caudate	brain
20	chr12:11768200-11768800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:11768200-11768800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:11768200-11768800	Enhancers	Brain Substantia Nigra	brain
23	chr12:11768400-11768600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:11768400-11768800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:11768400-11768800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:11768400-11768800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:11768400-11769000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:11768400-11769000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:11768400-11769000	Enhancers	Liver	Liver
30	chr12:11768600-11768800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:11768600-11768800	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:11768600-11769000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:11768600-11769000	Enhancers	Brain Germinal Matrix	brain
34	chr12:11768800-11769000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:11768800-11770000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:11768800-11770000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:11768800-11770000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:11768800-11771200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:11768800-11774800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:11769000-11771400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:11769000-11775400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:11769000-11775400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:11769800-11770200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:11770000-11770600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:11770000-11770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:11770000-11770800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:11770000-11772000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:11770000-11772000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:11770200-11776000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:11770600-11771400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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