Variant report

Variant	nsv1041200
Chromosome Location	chr12:31094362-31137140
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	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
2	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
3	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
4	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
5	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
6	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
7	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
8	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
9	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
10	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
11	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
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	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
16	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
17	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
18	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
19	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:
20	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
21	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:

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

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

No data

Extended variants
information (count: 1798 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1798 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1012717	chr12:31094362-31094363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539334824	chr12:31094371-31094372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373769260	chr12:31094402-31094403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560241916	chr12:31094423-31094424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141691021	chr12:31094453-31094454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542642981	chr12:31094505-31094506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189681021	chr12:31094537-31094538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146115596	chr12:31094539-31094540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550957325	chr12:31094550-31094551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1012718	chr12:31094560-31094561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34541265	chr12:31094598-31094599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139920087	chr12:31094610-31094611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551467626	chr12:31094612-31094613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566616001	chr12:31094680-31094681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12318632	chr12:31094685-31094686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373287674	chr12:31094702-31094703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555317409	chr12:31094789-31094790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182256612	chr12:31094811-31094812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538166098	chr12:31094816-31094817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145878798	chr12:31094872-31094873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs118186123	chr12:31094873-31094874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186585556	chr12:31094902-31094903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538523560	chr12:31094934-31094935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553956842	chr12:31094959-31094960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572149502	chr12:31094971-31094972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148496685	chr12:31094972-31094973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145343799	chr12:31094991-31094992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1549104	chr12:31095036-31095037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544891103	chr12:31095044-31095045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147679136	chr12:31095045-31095046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533387715	chr12:31095065-31095066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572736089	chr12:31095066-31095067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190945136	chr12:31095088-31095089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183577839	chr12:31095099-31095100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527760884	chr12:31095100-31095101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538880894	chr12:31095180-31095181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549040453	chr12:31095222-31095223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6487952	chr12:31095241-31095242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537812281	chr12:31095319-31095320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188527806	chr12:31095356-31095357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571450016	chr12:31095435-31095436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142407204	chr12:31095477-31095478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11051175	chr12:31095506-31095507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572613576	chr12:31095618-31095619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151186441	chr12:31095623-31095624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536374608	chr12:31095654-31095655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10661944	chr12:31095661-31095662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397699870	chr12:31095676-31095677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372548841	chr12:31095695-31095696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554320480	chr12:31095760-31095761	Weak transcription Enhancers	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:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links