Variant report

Variant	nsv1046132
Chromosome Location	chr12:31102884-31133065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
2	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
3	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
4	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
5	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
6	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
7	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
8	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
9	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
10	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
11	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
12	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
13	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
14	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:
15	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
16	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
17	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
18	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
19	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
20	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
21	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPRIN2-6	chr12:31104861-31104971	ucscGeneNc_uc001rjq_1
2	lnc-CAPRIN2-6	chr12:31117396-31117961	ucscGeneNc_uc001rjq_1

No data

Extended variants
information (count: 1298 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1298 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115748309	chr12:31102899-31102900	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118155492	chr12:31102953-31102954	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141027634	chr12:31102956-31102957	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554770641	chr12:31102963-31102964	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143455949	chr12:31102964-31102965	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536277745	chr12:31102985-31102986	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554281821	chr12:31102995-31102996	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113998974	chr12:31103002-31103003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146758388	chr12:31103032-31103033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570278788	chr12:31103095-31103096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562798593	chr12:31103133-31103134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577854542	chr12:31103146-31103147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545191531	chr12:31103210-31103211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560671832	chr12:31103260-31103261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527800144	chr12:31103262-31103263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140444563	chr12:31103286-31103287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143442811	chr12:31103304-31103305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188808260	chr12:31103332-31103333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77323305	chr12:31103333-31103334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11051180	chr12:31103360-31103361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114990190	chr12:31103384-31103385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370208371	chr12:31103441-31103442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547258519	chr12:31103487-31103488	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140768247	chr12:31103506-31103507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150117956	chr12:31103596-31103597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181139883	chr12:31103607-31103608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199625773	chr12:31103712-31103713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138441538	chr12:31103774-31103775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536638137	chr12:31103849-31103850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571243669	chr12:31103850-31103851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183876258	chr12:31103918-31103919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577893743	chr12:31103935-31103936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545264947	chr12:31103948-31103949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574188779	chr12:31103949-31103950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7311000	chr12:31103962-31103963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572557366	chr12:31103980-31103981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542767212	chr12:31103993-31103994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376521523	chr12:31104000-31104001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188105399	chr12:31104020-31104021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75190846	chr12:31104022-31104023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59544024	chr12:31104023-31104024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565213909	chr12:31104040-31104041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532463375	chr12:31104042-31104043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572379071	chr12:31104044-31104045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144016711	chr12:31104074-31104075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565740585	chr12:31104110-31104111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147316754	chr12:31104123-31104124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536402463	chr12:31104190-31104191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548018698	chr12:31104196-31104197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55741420	chr12:31104203-31104204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sertoli-cell only syndrome	20877625	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31081000-31105200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:31088200-31106600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:31098800-31106400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:31099200-31104800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:31099600-31105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
7	chr12:31100000-31104400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:31100200-31111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:31100800-31111200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:31101400-31105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:31102800-31103000	Enhancers	Right Atrium	heart
12	chr12:31102800-31103800	ZNF genes & repeats	Fetal Brain Female	brain
13	chr12:31103000-31103800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:31103000-31106400	Weak transcription	Right Atrium	heart
15	chr12:31103200-31104600	Weak transcription	Thymus	Thymus
16	chr12:31103800-31106000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:31103800-31106400	Weak transcription	Fetal Brain Female	brain
18	chr12:31104400-31104600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:31104400-31105200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:31104600-31104800	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:31104600-31105600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:31104600-31107800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:31104600-31108200	Enhancers	Thymus	Thymus
24	chr12:31104800-31105000	Enhancers	Brain Hippocampus Middle	brain
25	chr12:31105000-31105200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:31105000-31105400	Enhancers	Fetal Muscle Leg	muscle
27	chr12:31105000-31105800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:31105000-31105800	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:31105000-31106000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:31105000-31106200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:31105000-31106800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:31105000-31108200	Enhancers	Fetal Thymus	thymus
33	chr12:31105200-31105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:31105200-31108200	Enhancers	Fetal Heart	heart
35	chr12:31105800-31108200	Enhancers	Brain Angular Gyrus	brain
36	chr12:31105800-31108200	Enhancers	Brain Cingulate Gyrus	brain
37	chr12:31105800-31108200	Enhancers	Brain Hippocampus Middle	brain
38	chr12:31105800-31112200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:31105800-31116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:31106000-31106600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:31106000-31106600	Enhancers	GM12878-XiMat	blood
42	chr12:31106000-31106800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:31106000-31107000	Enhancers	HMEC	breast
44	chr12:31106000-31111600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:31106000-31120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:31106200-31106600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:31106200-31108200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:31106200-31108200	Enhancers	Rectal Smooth Muscle	rectum
49	chr12:31106400-31106800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:31106400-31107000	Enhancers	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links