Variant report

Variant	nsv976029
Chromosome Location	chr12:30687283-30702050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30698138..30700948-chr12:30704546..30706806,2	K562	blood:
2	chr12:30683267..30686430-chr12:30686853..30688621,3	K562	blood:
3	chr12:30659100..30661387-chr12:30684901..30687709,2	K562	blood:

Extended variants
information (count: 366 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574365280	chr12:30687294-30687295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187854494	chr12:30687340-30687341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200196778	chr12:30687395-30687396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61921142	chr12:30687412-30687413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs35448039	chr12:30687432-30687433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1385343	chr12:30687444-30687445	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs544068712	chr12:30687464-30687465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112307619	chr12:30687553-30687554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565230606	chr12:30687586-30687587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371791819	chr12:30687634-30687635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532675985	chr12:30687635-30687636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547593064	chr12:30687646-30687647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113736478	chr12:30687655-30687656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112027047	chr12:30687656-30687657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182962377	chr12:30687752-30687753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569658511	chr12:30687773-30687774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371942406	chr12:30687835-30687836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187254691	chr12:30687868-30687869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111418423	chr12:30687884-30687885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192585174	chr12:30687909-30687910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552812855	chr12:30687930-30687931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574328957	chr12:30687933-30687934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145623974	chr12:30687949-30687950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182889492	chr12:30687957-30687958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576854395	chr12:30687960-30687961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544016331	chr12:30687985-30687986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140450597	chr12:30687989-30687990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576996674	chr12:30688005-30688006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577389948	chr12:30688032-30688033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187450624	chr12:30688047-30688048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11050940	chr12:30688085-30688086	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530030512	chr12:30688088-30688089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548227122	chr12:30688105-30688106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563221329	chr12:30688118-30688119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111245257	chr12:30688126-30688127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552201833	chr12:30688139-30688140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572034033	chr12:30688140-30688141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7962046	chr12:30688156-30688157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534517335	chr12:30688162-30688163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373164021	chr12:30688163-30688164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192713690	chr12:30688172-30688173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568200944	chr12:30688173-30688174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368810113	chr12:30688201-30688202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112421525	chr12:30688207-30688208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115885885	chr12:30688217-30688218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117533961	chr12:30688248-30688249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184851894	chr12:30688308-30688309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561003708	chr12:30688355-30688356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189269685	chr12:30688369-30688370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541307229	chr12:30688390-30688391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30685600-30687800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:30686000-30689400	Weak transcription	Pancreas	Pancrea
3	chr12:30686200-30687800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:30686800-30689400	Weak transcription	Fetal Stomach	stomach
5	chr12:30686800-30690200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:30687000-30687400	Enhancers	Adipose Nuclei	Adipose
7	chr12:30688400-30689600	Enhancers	Fetal Heart	heart
8	chr12:30688600-30689200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:30688600-30689800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:30689000-30689200	Enhancers	Brain Germinal Matrix	brain
11	chr12:30689400-30689600	Enhancers	Pancreas	Pancrea
12	chr12:30689400-30689800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:30689400-30689800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:30689400-30689800	Enhancers	Fetal Stomach	stomach
15	chr12:30695800-30697400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:30697400-30698400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:30698400-30699600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:30698600-30699200	Enhancers	NHEK	skin
19	chr12:30698600-30699600	Enhancers	HMEC	breast
20	chr12:30698800-30699200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:30698800-30699400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:30698800-30699600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:30699000-30699400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:30699200-30699600	Enhancers	Hela-S3	cervix
25	chr12:30699200-30700800	Enhancers	Esophagus	oesophagus
26	chr12:30701000-30701400	Enhancers	Fetal Heart	heart

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