Variant report

Variant	nsv522849
Chromosome Location	chr12:31095781-31129130
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
2	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
3	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
4	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
5	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
6	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
7	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
8	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
9	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
10	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
11	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:
12	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
13	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
14	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
15	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
16	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
17	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
18	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
19	chr12:31122020..31124643-chr12:31127496..31129096,2	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: 1328 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1328 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9668315	chr12:31095781-31095782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192750561	chr12:31095824-31095825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183080716	chr12:31095855-31095856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3950569	chr12:31095883-31095884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150363982	chr12:31095918-31095919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549468422	chr12:31095954-31095955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561218419	chr12:31095977-31095978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376588747	chr12:31096019-31096020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187632675	chr12:31096031-31096032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544195700	chr12:31096036-31096037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111753444	chr12:31096068-31096069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544474607	chr12:31096102-31096103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571603804	chr12:31096127-31096128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538949775	chr12:31096145-31096146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2193763	chr12:31096151-31096152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs565883626	chr12:31096204-31096205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191450520	chr12:31096220-31096221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374426327	chr12:31096231-31096232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183621147	chr12:31096280-31096281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576051360	chr12:31096303-31096304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142705419	chr12:31096403-31096404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546085885	chr12:31096429-31096430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189445927	chr12:31096452-31096453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576391830	chr12:31096588-31096589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113684841	chr12:31096623-31096624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192350061	chr12:31096628-31096629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572347595	chr12:31096642-31096643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530431243	chr12:31096660-31096661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542851198	chr12:31096676-31096677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114949959	chr12:31096699-31096700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185246393	chr12:31096713-31096714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557646832	chr12:31096729-31096730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190047659	chr12:31096764-31096765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76988417	chr12:31096769-31096770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532502622	chr12:31096770-31096771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75002567	chr12:31096817-31096818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533115993	chr12:31096957-31096958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138541895	chr12:31096978-31096979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374444400	chr12:31097043-31097044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57907725	chr12:31097065-31097066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548057087	chr12:31097123-31097124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141622116	chr12:31097129-31097130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531557220	chr12:31097160-31097161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181302634	chr12:31097162-31097163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11051177	chr12:31097273-31097274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575913718	chr12:31097289-31097290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534311680	chr12:31097361-31097362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11051178	chr12:31097385-31097386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144504990	chr12:31097386-31097387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527786767	chr12:31097400-31097401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

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	chr12:31089800-31098600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31092200-31096800	Weak transcription	Fetal Stomach	stomach
5	chr12:31093800-31100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:31094000-31099600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:31095000-31096200	Enhancers	Spleen	Spleen
8	chr12:31096000-31096200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr12:31096200-31096800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:31096200-31098400	Weak transcription	Spleen	Spleen
11	chr12:31096800-31097000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr12:31096800-31099600	Enhancers	Fetal Stomach	stomach
13	chr12:31098000-31100000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:31098400-31098800	Enhancers	Brain Substantia Nigra	brain
15	chr12:31098400-31099000	Enhancers	Spleen	Spleen
16	chr12:31098400-31099200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr12:31098400-31099800	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:31098600-31099200	Enhancers	Brain Hippocampus Middle	brain
19	chr12:31098600-31099600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:31098800-31099000	Enhancers	Fetal Muscle Leg	muscle
21	chr12:31098800-31106400	Weak transcription	Brain Substantia Nigra	brain
22	chr12:31099200-31104800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:31099400-31099800	Enhancers	Stomach Smooth Muscle	stomach
24	chr12:31099600-31100400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:31099600-31105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
27	chr12:31100000-31100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:31100000-31104400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:31100200-31111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:31100800-31111200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:31101400-31105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:31102800-31103000	Enhancers	Right Atrium	heart
33	chr12:31102800-31103800	ZNF genes & repeats	Fetal Brain Female	brain
34	chr12:31103000-31103800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:31103000-31106400	Weak transcription	Right Atrium	heart
36	chr12:31103200-31104600	Weak transcription	Thymus	Thymus
37	chr12:31103800-31106000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:31103800-31106400	Weak transcription	Fetal Brain Female	brain
39	chr12:31104400-31104600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:31104400-31105200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:31104600-31104800	Enhancers	Rectal Smooth Muscle	rectum
42	chr12:31104600-31105600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:31104600-31107800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:31104600-31108200	Enhancers	Thymus	Thymus
45	chr12:31104800-31105000	Enhancers	Brain Hippocampus Middle	brain
46	chr12:31105000-31105200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:31105000-31105400	Enhancers	Fetal Muscle Leg	muscle
48	chr12:31105000-31105800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:31105000-31105800	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:31105000-31106000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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