Variant report

Variant	nsv898805
Chromosome Location	chr12:12119414-12156322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12149372..12151111-chr12:12165624..12167252,2	K562	blood:
2	chr12:11801874..11803693-chr12:12145679..12148556,2	MCF-7	breast:
3	chr12:12119486..12122016-chr12:12155612..12157383,2	MCF-7	breast:
4	chr12:12152249..12154243-chr12:12157391..12159272,2	K562	blood:
5	chr12:12119486..12122016-chr12:12155612..12157383,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	chromatin interactions

Extended variants
information (count: 1515 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1515 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4763263	chr12:12119414-12119415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115991667	chr12:12119454-12119455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148508775	chr12:12119455-12119456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369242721	chr12:12119457-12119458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11054560	chr12:12119465-12119466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143891832	chr12:12119552-12119553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112208887	chr12:12119692-12119693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187523903	chr12:12119719-12119720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376159442	chr12:12119726-12119727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61921440	chr12:12119743-12119744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535642318	chr12:12119795-12119796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546681780	chr12:12119805-12119806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370409178	chr12:12119807-12119808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539716004	chr12:12119813-12119814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147283048	chr12:12119855-12119856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576730095	chr12:12119859-12119860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543974257	chr12:12119862-12119863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7303655	chr12:12119863-12119864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370918878	chr12:12119929-12119930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191421523	chr12:12120013-12120014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs118087293	chr12:12120029-12120030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560473253	chr12:12120033-12120034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567535120	chr12:12120038-12120039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114631981	chr12:12120048-12120049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373496884	chr12:12120062-12120063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564334997	chr12:12120087-12120088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531726953	chr12:12120094-12120095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183333586	chr12:12120095-12120096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139659550	chr12:12120105-12120106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536419869	chr12:12120148-12120149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377737623	chr12:12120170-12120171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145259067	chr12:12120212-12120213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547605921	chr12:12120258-12120259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565901176	chr12:12120284-12120285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73283520	chr12:12120331-12120332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35279699	chr12:12120369-12120370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398018429	chr12:12120383-12120384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558382833	chr12:12120391-12120392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570401025	chr12:12120432-12120433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553129579	chr12:12120462-12120463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537839873	chr12:12120464-12120465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556019226	chr12:12120475-12120476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574562423	chr12:12120480-12120481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370884237	chr12:12120547-12120548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541921480	chr12:12120552-12120553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34692774	chr12:12120578-12120579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375571239	chr12:12120584-12120585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567188742	chr12:12120655-12120656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554028089	chr12:12120678-12120679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79247069	chr12:12120695-12120696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	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 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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12112000-12121400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:12112000-12123000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:12112600-12120400	Weak transcription	Fetal Thymus	thymus
4	chr12:12112800-12120200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:12114600-12122600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:12115000-12121000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:12115000-12122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:12116200-12120000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:12116800-12121000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:12117000-12120400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:12117400-12121600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:12117400-12121800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:12118800-12120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:12119200-12121200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:12120000-12121600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:12120000-12121800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:12120200-12120800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:12120200-12121200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:12120400-12120600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:12120400-12121200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:12120400-12121200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:12120400-12121200	Enhancers	Fetal Thymus	thymus
23	chr12:12120400-12121600	Enhancers	HUVEC	blood vessel
24	chr12:12120600-12121000	Enhancers	Stomach Mucosa	stomach
25	chr12:12120600-12121200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:12120600-12121600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:12120800-12125800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:12121000-12121200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:12121000-12121800	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:12121000-12124000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:12121200-12121600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:12121200-12122800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:12121400-12122200	Enhancers	GM12878-XiMat	blood
34	chr12:12121400-12123800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:12121600-12121800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:12121600-12121800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:12121600-12122200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:12121600-12123600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr12:12121600-12123600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr12:12121800-12122400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:12121800-12122600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:12121800-12123000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:12122200-12123000	Flanking Active TSS	GM12878-XiMat	blood
44	chr12:12122200-12123400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:12122400-12123400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:12122600-12123600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:12122600-12123600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:12122600-12123600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:12122600-12123800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:12122800-12123000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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