Variant report

Variant	nsv973017
Chromosome Location	chr12:8787931-8790231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150933973	chr12:8788050-8788051	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140338428	chr12:8788051-8788052	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184071435	chr12:8788080-8788081	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539955155	chr12:8788161-8788162	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188221586	chr12:8788162-8788163	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572124953	chr12:8788247-8788248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572138626	chr12:8788268-8788269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34847713	chr12:8788280-8788281	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34459972	chr12:8788294-8788295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190665719	chr12:8788295-8788296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7132333	chr12:8788296-8788297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144196870	chr12:8788391-8788392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377445988	chr12:8788425-8788426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182519382	chr12:8788447-8788448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56156813	chr12:8788528-8788529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561287127	chr12:8788538-8788539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141421941	chr12:8788555-8788556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186113699	chr12:8788610-8788611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530378252	chr12:8788629-8788630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113618133	chr12:8788650-8788651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373013029	chr12:8788667-8788668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187115874	chr12:8788672-8788673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563879590	chr12:8788677-8788678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376286340	chr12:8788693-8788694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112951268	chr12:8788723-8788724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550076698	chr12:8788753-8788754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71447521	chr12:8788785-8788786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113310356	chr12:8788818-8788819	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548738408	chr12:8788855-8788856	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377616400	chr12:8788917-8788918	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs376863097	chr12:8788922-8788923	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565837853	chr12:8788928-8788929	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370985427	chr12:8788982-8788983	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs375870137	chr12:8788987-8788988	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs35918490	chr12:8788997-8788998	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141984061	chr12:8789025-8789026	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182435225	chr12:8789029-8789030	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs10466796	chr12:8789030-8789031	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138489188	chr12:8789074-8789075	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs374324403	chr12:8789079-8789080	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs368412923	chr12:8789086-8789087	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs368737364	chr12:8789153-8789154	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187877484	chr12:8789161-8789162	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs193018990	chr12:8789162-8789163	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs143033448	chr12:8789195-8789196	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7956453	chr12:8789223-8789224	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150667868	chr12:8789228-8789229	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551888683	chr12:8789243-8789244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113653769	chr12:8789307-8789308	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571644286	chr12:8789325-8789326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8782800-8788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:8783000-8795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:8783000-8797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:8783400-8797200	Weak transcription	HSMMtube	muscle
5	chr12:8787200-8788400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:8787400-8789200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:8787400-8790200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:8787600-8788400	Enhancers	NHEK	skin
9	chr12:8787600-8788600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:8787600-8788600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:8787800-8788200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:8787800-8788200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:8787800-8788400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:8787800-8788600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:8787800-8788600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:8787800-8788800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:8787800-8790200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:8788000-8788200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr12:8788000-8788200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:8788000-8788200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:8788000-8788200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:8788000-8788200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:8788000-8788200	Enhancers	Esophagus	oesophagus
24	chr12:8788000-8789600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:8788000-8798600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:8788200-8788400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:8788200-8789000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:8788200-8789200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:8788200-8789200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:8788200-8789200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:8788200-8789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:8788200-8789200	Weak transcription	Esophagus	oesophagus
33	chr12:8788400-8788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:8788400-8789000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:8788400-8789200	Weak transcription	NHEK	skin
36	chr12:8788400-8790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:8788600-8789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:8788600-8789000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:8788600-8789200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:8788600-8789200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:8788600-8789400	Enhancers	Placenta	Placenta
42	chr12:8788800-8789200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:8788800-8791000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:8789000-8789600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:8789000-8789600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr12:8789000-8789800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:8789000-8790400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:8789200-8789600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:8789200-8789600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:8789200-8789600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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