Variant report

Variant	nsv541456
Chromosome Location	chr12:32698189-32721994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32682843..32685838-chr12:32710494..32712764,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BICD1-4	chr12:32717071-32717223	NONHSAT027615
2	lnc-BICD1-4	chr12:32717071-32717223	NONHSAT027617
3	lnc-BICD1-4	chr12:32717071-32717223	NONHSAT027616

Extended variants
information (count: 913 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556021098	chr12:32698248-32698249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12370972	chr12:32698261-32698262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371297153	chr12:32698315-32698316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374889923	chr12:32698351-32698352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544749372	chr12:32698370-32698371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191562808	chr12:32698406-32698407	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572028703	chr12:32698505-32698506	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146867181	chr12:32698536-32698537	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73100112	chr12:32698546-32698547	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529954455	chr12:32698633-32698634	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549930258	chr12:32698638-32698639	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563656964	chr12:32698675-32698676	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140518287	chr12:32698694-32698695	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113851384	chr12:32698734-32698735	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs61928312	chr12:32698745-32698746	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372695548	chr12:32698847-32698848	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534695783	chr12:32698893-32698894	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144239600	chr12:32698932-32698933	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568399729	chr12:32698950-32698951	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537275986	chr12:32699016-32699017	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551845929	chr12:32699048-32699049	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577331537	chr12:32699049-32699050	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538736849	chr12:32699066-32699067	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146545028	chr12:32699082-32699083	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572117213	chr12:32699090-32699091	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369653999	chr12:32699094-32699095	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541016508	chr12:32699129-32699130	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554936546	chr12:32699208-32699209	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371556721	chr12:32699237-32699238	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574759993	chr12:32699305-32699306	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182984252	chr12:32699331-32699332	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563510279	chr12:32699394-32699395	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188028195	chr12:32699395-32699396	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116374850	chr12:32699404-32699405	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534307142	chr12:32699459-32699460	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546887591	chr12:32699475-32699476	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192354834	chr12:32699527-32699528	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141316356	chr12:32699546-32699547	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182050145	chr12:32699550-32699551	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558681055	chr12:32699552-32699553	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568085899	chr12:32699555-32699556	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531252394	chr12:32699567-32699568	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7972677	chr12:32699589-32699590	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373968215	chr12:32699670-32699671	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554116312	chr12:32699684-32699685	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572589677	chr12:32699691-32699692	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539640176	chr12:32699754-32699755	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368967748	chr12:32699780-32699781	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143279392	chr12:32699843-32699844	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534628069	chr12:32699902-32699903	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1218 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
3	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
5	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:32689600-32701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:32690400-32698200	Weak transcription	HSMMtube	muscle
9	chr12:32690400-32701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:32690600-32699400	Weak transcription	Aorta	Aorta
11	chr12:32690600-32701000	Weak transcription	NH-A	brain
12	chr12:32691000-32698600	Weak transcription	Colonic Mucosa	Colon
13	chr12:32691800-32698400	Weak transcription	Right Ventricle	heart
14	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:32694000-32698400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:32694200-32698400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:32694600-32699200	Weak transcription	Psoas Muscle	Psoas
18	chr12:32695000-32698400	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:32695200-32698400	Weak transcription	Placenta	Placenta
20	chr12:32695200-32701000	Weak transcription	NHEK	skin
21	chr12:32695200-32701200	Weak transcription	HMEC	breast
22	chr12:32695200-32701800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:32695200-32702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:32695400-32698200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:32695400-32698200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:32695400-32698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:32695400-32698200	Weak transcription	Fetal Brain Female	brain
28	chr12:32695600-32701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:32695800-32701000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:32696000-32698400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:32696000-32698400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:32696000-32699200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:32696000-32699400	Weak transcription	Lung	lung
34	chr12:32696000-32701200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:32696000-32701600	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:32696000-32702600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:32696000-32704200	Enhancers	Ovary	ovary
38	chr12:32696200-32698200	Weak transcription	Stomach Mucosa	stomach
39	chr12:32696200-32698400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:32696200-32698400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:32696200-32698600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:32696200-32701400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:32696200-32702200	Weak transcription	Fetal Kidney	kidney
44	chr12:32696200-32702800	Enhancers	Liver	Liver
45	chr12:32696400-32698200	Weak transcription	Brain Angular Gyrus	brain
46	chr12:32696400-32698200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:32696400-32698200	Weak transcription	Fetal Lung	lung
48	chr12:32696400-32698200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:32696400-32698400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:32696400-32698600	Weak transcription	Pancreas	Pancrea

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