Variant report

Variant	nsv1035182
Chromosome Location	chr12:31093232-31145726
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:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
2	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
3	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
4	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
5	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
6	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
7	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
8	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
9	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
10	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
11	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:
12	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
13	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
14	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
15	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
16	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
17	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
18	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
19	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
20	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
21	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
22	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
23	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
24	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
25	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
26	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	chr12:31117396-31117961	ucscGeneNc_uc001rjq_1
2	lnc-CAPRIN2-6	chr12:31104861-31104971	ucscGeneNc_uc001rjq_1

No data

Extended variants
information (count: 2191 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2191 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7134598	chr12:31093232-31093233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200320774	chr12:31093264-31093265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184412206	chr12:31093267-31093268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138604975	chr12:31093270-31093271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529022677	chr12:31093289-31093290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550414636	chr12:31093445-31093446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562559685	chr12:31093487-31093488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532838082	chr12:31093488-31093489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369962092	chr12:31093511-31093512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551350194	chr12:31093514-31093515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149319552	chr12:31093534-31093535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189348472	chr12:31093559-31093560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181892647	chr12:31093568-31093569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548821401	chr12:31093618-31093619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61634819	chr12:31093636-31093637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535996613	chr12:31093637-31093638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557220700	chr12:31093647-31093648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184558533	chr12:31093666-31093667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539484409	chr12:31093673-31093674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557708661	chr12:31093704-31093705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189295589	chr12:31093771-31093772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570326750	chr12:31093827-31093828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143610740	chr12:31093828-31093829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181716063	chr12:31093892-31093893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534268384	chr12:31093953-31093954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186888292	chr12:31093972-31093973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12316937	chr12:31093973-31093974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs118117446	chr12:31094003-31094004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79185755	chr12:31094008-31094009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375232866	chr12:31094019-31094020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7306770	chr12:31094025-31094026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547319273	chr12:31094037-31094038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189633054	chr12:31094040-31094041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181166022	chr12:31094045-31094046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551138501	chr12:31094072-31094073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569281409	chr12:31094073-31094074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539944210	chr12:31094108-31094109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533008433	chr12:31094131-31094132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557796445	chr12:31094146-31094147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185959993	chr12:31094147-31094148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533888674	chr12:31094158-31094159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369374074	chr12:31094165-31094166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555291065	chr12:31094178-31094179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377222873	chr12:31094185-31094186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374002453	chr12:31094192-31094193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145957137	chr12:31094206-31094207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570758191	chr12:31094279-31094280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544115783	chr12:31094290-31094291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139861265	chr12:31094344-31094345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1012717	chr12:31094362-31094363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr12:31090600-31093600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:31092200-31096800	Weak transcription	Fetal Stomach	stomach
6	chr12:31093000-31093800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:31093400-31093800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:31093600-31093800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:31093800-31100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:31094000-31099600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:31095000-31096200	Enhancers	Spleen	Spleen
12	chr12:31096000-31096200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:31096200-31096800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:31096200-31098400	Weak transcription	Spleen	Spleen
15	chr12:31096800-31097000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:31096800-31099600	Enhancers	Fetal Stomach	stomach
17	chr12:31098000-31100000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:31098400-31098800	Enhancers	Brain Substantia Nigra	brain
19	chr12:31098400-31099000	Enhancers	Spleen	Spleen
20	chr12:31098400-31099200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:31098400-31099800	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:31098600-31099200	Enhancers	Brain Hippocampus Middle	brain
23	chr12:31098600-31099600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:31098800-31099000	Enhancers	Fetal Muscle Leg	muscle
25	chr12:31098800-31106400	Weak transcription	Brain Substantia Nigra	brain
26	chr12:31099200-31104800	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:31099400-31099800	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:31099600-31100400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:31099600-31105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
31	chr12:31100000-31100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:31100000-31104400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:31100200-31111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:31100800-31111200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:31101400-31105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:31102800-31103000	Enhancers	Right Atrium	heart
37	chr12:31102800-31103800	ZNF genes & repeats	Fetal Brain Female	brain
38	chr12:31103000-31103800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:31103000-31106400	Weak transcription	Right Atrium	heart
40	chr12:31103200-31104600	Weak transcription	Thymus	Thymus
41	chr12:31103800-31106000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:31103800-31106400	Weak transcription	Fetal Brain Female	brain
43	chr12:31104400-31104600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:31104400-31105200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:31104600-31104800	Enhancers	Rectal Smooth Muscle	rectum
46	chr12:31104600-31105600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:31104600-31107800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:31104600-31108200	Enhancers	Thymus	Thymus
49	chr12:31104800-31105000	Enhancers	Brain Hippocampus Middle	brain
50	chr12:31105000-31105200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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