Variant report

Variant	nsv557959
Chromosome Location	chr12:29944670-29959697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 637 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs302349	chr12:29944670-29944671	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577577269	chr12:29944679-29944680	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545453359	chr12:29944704-29944705	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3042161	chr12:29944711-29944712	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34419386	chr12:29944712-29944713	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10690265	chr12:29944713-29944714	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs66694265	chr12:29944714-29944715	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397812253	chr12:29944715-29944716	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145425066	chr12:29944735-29944736	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61922594	chr12:29944736-29944737	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149221800	chr12:29944747-29944748	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560845561	chr12:29944749-29944750	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2164948	chr12:29944761-29944762	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs543034926	chr12:29944768-29944769	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564925108	chr12:29944770-29944771	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532034284	chr12:29944773-29944774	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61922595	chr12:29944774-29944775	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185022033	chr12:29944778-29944779	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189057166	chr12:29944780-29944781	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549648046	chr12:29944787-29944788	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567952886	chr12:29944788-29944789	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114586668	chr12:29944797-29944798	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs302350	chr12:29944807-29944808	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571581850	chr12:29944836-29944837	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538662353	chr12:29944838-29944839	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61922596	chr12:29944844-29944845	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182140401	chr12:29944862-29944863	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112876278	chr12:29944898-29944899	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371198165	chr12:29944920-29944921	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185202676	chr12:29944929-29944930	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573627383	chr12:29944940-29944941	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116166281	chr12:29944959-29944960	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142441230	chr12:29944968-29944969	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73079425	chr12:29944986-29944987	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189659814	chr12:29944987-29944988	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114866934	chr12:29944992-29944993	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181344881	chr12:29944993-29944994	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116650269	chr12:29944995-29944996	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529859273	chr12:29944998-29944999	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549584695	chr12:29945003-29945004	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561559798	chr12:29945016-29945017	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531824976	chr12:29945026-29945027	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147930798	chr12:29945039-29945040	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114968683	chr12:29945063-29945064	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547427929	chr12:29945086-29945087	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565819366	chr12:29945087-29945088	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536373399	chr12:29945091-29945092	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554666398	chr12:29945093-29945094	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576153456	chr12:29945135-29945136	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536863213	chr12:29945138-29945139	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29937200-29945400	Weak transcription	Spleen	Spleen
2	chr12:29943800-29946800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:29943800-29947200	ZNF genes & repeats	Fetal Kidney	kidney
4	chr12:29944000-29944800	ZNF genes & repeats	Fetal Brain Male	brain
5	chr12:29944000-29945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:29944000-29946000	ZNF genes & repeats	Gastric	stomach
7	chr12:29944000-29946800	Enhancers	Pancreas	Pancrea
8	chr12:29944000-29947000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr12:29944000-29947000	ZNF genes & repeats	Dnd41	blood
10	chr12:29944000-29947200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:29944000-29947200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:29944000-29947200	ZNF genes & repeats	Fetal Lung	lung
13	chr12:29944000-29947200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr12:29944200-29947200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr12:29944400-29945200	Weak transcription	Ovary	ovary
16	chr12:29944400-29946600	ZNF genes & repeats	Esophagus	oesophagus
17	chr12:29944600-29944800	ZNF genes & repeats	NHLF	lung
18	chr12:29944800-29947000	ZNF genes & repeats	A549	lung
19	chr12:29945000-29947000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr12:29945200-29945400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:29945200-29945400	Enhancers	Ovary	ovary
22	chr12:29945400-29946000	ZNF genes & repeats	Spleen	Spleen
23	chr12:29945400-29947000	ZNF genes & repeats	GM12878-XiMat	blood
24	chr12:29945600-29947000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:29946000-29947000	Weak transcription	Spleen	Spleen
26	chr12:29946400-29947000	Enhancers	Colon Smooth Muscle	Colon
27	chr12:29946400-29953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:29946600-29946800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:29946600-29947000	Weak transcription	Esophagus	oesophagus
30	chr12:29946600-29947000	ZNF genes & repeats	Fetal Heart	heart
31	chr12:29946600-29947200	Active TSS	Fetal Brain Male	brain
32	chr12:29946800-29947000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:29946800-29947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:29947000-29947200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:29947000-29947200	Enhancers	Esophagus	oesophagus
36	chr12:29947000-29947200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:29947000-29947200	ZNF genes & repeats	Spleen	Spleen
38	chr12:29947000-29947200	Enhancers	NHDF-Ad	bronchial
39	chr12:29947000-29947600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:29947000-29948200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:29947000-29948600	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:29947000-29950800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:29947200-29948400	Weak transcription	Fetal Lung	lung
44	chr12:29947200-29948600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:29947200-29948600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:29947200-29948800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:29947200-29948800	Weak transcription	NHDF-Ad	bronchial
48	chr12:29947200-29949400	Weak transcription	Fetal Kidney	kidney
49	chr12:29947200-29950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:29947200-29950600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links