Variant report

Variant	nsv973958
Chromosome Location	chr12:32712509-32726963
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	chr12:32722186..32723857-chr12:32727379..32729028,2	MCF-7	breast:
2	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	NONHSAT027616
3	lnc-BICD1-4	chr12:32717071-32717223	NONHSAT027617

Extended variants
information (count: 605 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:605 , 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	rs17538469	chr12:32712577-32712578	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182860742	chr12:32712594-32712595	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140412789	chr12:32712616-32712617	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs74611280	chr12:32712617-32712618	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs78215674	chr12:32712636-32712637	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73305534	chr12:32712640-32712641	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538984195	chr12:32712643-32712644	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11052068	chr12:32712735-32712736	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537246555	chr12:32712815-32712816	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187250114	chr12:32712820-32712821	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540843904	chr12:32712823-32712824	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150371302	chr12:32712831-32712832	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541786476	chr12:32712859-32712860	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192843529	chr12:32712882-32712883	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182696997	chr12:32712884-32712885	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543470916	chr12:32712902-32712903	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563344205	chr12:32712922-32712923	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555585053	chr12:32712924-32712925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115320785	chr12:32713032-32713033	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552487055	chr12:32713037-32713038	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144905136	chr12:32713050-32713051	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528754762	chr12:32713072-32713073	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140767666	chr12:32713106-32713107	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568602828	chr12:32713116-32713117	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144684575	chr12:32713127-32713128	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77352590	chr12:32713128-32713129	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10844243	chr12:32713135-32713136	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs538620652	chr12:32713212-32713213	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138557103	chr12:32713239-32713240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187768738	chr12:32713242-32713243	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141632595	chr12:32713255-32713256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554477681	chr12:32713257-32713258	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10844244	chr12:32713295-32713296	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543556583	chr12:32713298-32713299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116761766	chr12:32713311-32713312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576855662	chr12:32713344-32713345	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143363713	chr12:32713347-32713348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201959013	chr12:32713355-32713356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559665576	chr12:32713425-32713426	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370776791	chr12:32713447-32713448	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528794429	chr12:32713453-32713454	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577590562	chr12:32713459-32713460	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193147230	chr12:32713497-32713498	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12296975	chr12:32713532-32713533	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs148346781	chr12:32713607-32713608	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531120935	chr12:32713635-32713636	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141591097	chr12:32713687-32713688	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569744171	chr12:32713697-32713698	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556314602	chr12:32713732-32713733	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184662653	chr12:32713734-32713735	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
3	chr12:32699600-32714800	Weak transcription	Fetal Intestine Large	intestine
4	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:32702800-32717200	Weak transcription	HUVEC	blood vessel
7	chr12:32703000-32717000	Weak transcription	HMEC	breast
8	chr12:32703000-32717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:32703000-32719400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:32703200-32719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:32703400-32713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:32704200-32712800	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:32704200-32712800	Weak transcription	Lung	lung
14	chr12:32704200-32719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:32704600-32714600	Weak transcription	Fetal Heart	heart
16	chr12:32707000-32712800	Weak transcription	Fetal Intestine Small	intestine
17	chr12:32710000-32714400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:32710400-32715400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:32711000-32713000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:32711000-32713400	Enhancers	Brain Substantia Nigra	brain
21	chr12:32711000-32713800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:32711000-32714000	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:32711200-32713000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:32711200-32713000	Enhancers	NHLF	lung
25	chr12:32711200-32713400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:32711200-32713400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:32711400-32712600	Flanking Active TSS	Liver	Liver
28	chr12:32711400-32712600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:32711400-32712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:32711400-32713000	Enhancers	NHEK	skin
31	chr12:32711400-32713200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:32711400-32713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:32711400-32713200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:32711400-32713400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:32711400-32714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:32711400-32714800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:32711400-32715400	Enhancers	HepG2	liver
38	chr12:32711600-32712600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:32711600-32712600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:32711600-32712600	Enhancers	Primary B cells from cord blood	blood
41	chr12:32711600-32713000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:32711600-32713000	Enhancers	Brain Anterior Caudate	brain
43	chr12:32711600-32713000	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:32711600-32713000	Enhancers	Osteobl	bone
45	chr12:32711600-32713200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:32711600-32713400	Enhancers	Brain Angular Gyrus	brain
47	chr12:32711800-32712600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:32711800-32712600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:32711800-32712800	Weak transcription	Esophagus	oesophagus
50	chr12:32711800-32712800	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links