Variant report

Variant	nsv524047
Chromosome Location	chr12:31115733-31148662
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:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
2	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
3	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
4	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
5	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
6	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
7	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
8	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
9	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
10	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
11	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
12	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
13	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
14	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
15	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
16	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
17	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
18	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 1480 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1480 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2352617	chr12:31115733-31115734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555815278	chr12:31115747-31115748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10743745	chr12:31115764-31115765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577980744	chr12:31115775-31115776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74705724	chr12:31115803-31115804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560481821	chr12:31115849-31115850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556979842	chr12:31115867-31115868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145080690	chr12:31115879-31115880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150962775	chr12:31115889-31115890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561107552	chr12:31115907-31115908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1861920	chr12:31115931-31115932	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186522638	chr12:31115945-31115946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74869776	chr12:31116012-31116013	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200861059	chr12:31116017-31116018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538323117	chr12:31116029-31116030	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201381297	chr12:31116038-31116039	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398098106	chr12:31116039-31116040	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191017104	chr12:31116045-31116046	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565292727	chr12:31116082-31116083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557319815	chr12:31116091-31116092	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150030966	chr12:31116101-31116102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534228894	chr12:31116130-31116131	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555628978	chr12:31116142-31116143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145379771	chr12:31116179-31116180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538410972	chr12:31116195-31116196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1861921	chr12:31116205-31116206	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141420740	chr12:31116232-31116233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545143468	chr12:31116247-31116248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117381144	chr12:31116262-31116263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77138703	chr12:31116306-31116307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145168860	chr12:31116324-31116325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561146451	chr12:31116331-31116332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531441833	chr12:31116334-31116335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549965465	chr12:31116341-31116342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138788240	chr12:31116434-31116435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56243125	chr12:31116487-31116488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547052331	chr12:31116515-31116516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183169245	chr12:31116527-31116528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75693061	chr12:31116557-31116558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549291865	chr12:31116584-31116585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140534942	chr12:31116598-31116599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145673848	chr12:31116647-31116648	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs188202402	chr12:31116676-31116677	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs118091949	chr12:31116678-31116679	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs539163878	chr12:31116691-31116692	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs200591255	chr12:31116717-31116718	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs371556458	chr12:31116725-31116726	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs148109579	chr12:31116730-31116731	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs141906570	chr12:31116739-31116740	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs372622319	chr12:31116743-31116744	Weak transcription Strong transcription Enhancers Bivalent Enhancer	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:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
2	chr12:31105800-31116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:31106000-31120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:31107800-31121400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:31108000-31130600	Weak transcription	Fetal Brain Female	brain
6	chr12:31108800-31117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:31109000-31117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:31111600-31116200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:31112000-31115800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:31112400-31123200	Weak transcription	Lung	lung
11	chr12:31112400-31126000	Weak transcription	Gastric	stomach
12	chr12:31113000-31116600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:31113400-31123000	Weak transcription	Spleen	Spleen
14	chr12:31114800-31118200	Weak transcription	Brain Germinal Matrix	brain
15	chr12:31115800-31120800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:31116000-31116400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:31116200-31123200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:31116400-31120400	Enhancers	Fetal Heart	heart
19	chr12:31116400-31123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:31116600-31116800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:31116600-31116800	Bivalent Enhancer	Placenta	Placenta
22	chr12:31116600-31119600	Weak transcription	Fetal Brain Male	brain
23	chr12:31116800-31117200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:31116800-31118000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:31116800-31122600	Strong transcription	Fetal Stomach	stomach
26	chr12:31117000-31117200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:31117000-31121000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:31117200-31119200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:31117200-31128400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:31117400-31122800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:31118000-31118200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:31118000-31118200	Enhancers	Right Atrium	heart
33	chr12:31118000-31118400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:31118000-31118600	Enhancers	Fetal Muscle Leg	muscle
35	chr12:31118000-31119800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr12:31118200-31119400	Strong transcription	Brain Germinal Matrix	brain
37	chr12:31118200-31120600	Weak transcription	Right Atrium	heart
38	chr12:31118400-31118600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:31118600-31118800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:31118800-31119200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:31119000-31123400	Weak transcription	Colonic Mucosa	Colon
42	chr12:31119200-31119600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr12:31119200-31119800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:31119400-31123400	Weak transcription	Brain Germinal Matrix	brain
45	chr12:31119600-31121600	Enhancers	Fetal Brain Male	brain
46	chr12:31119600-31123000	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr12:31119800-31120400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:31120000-31121400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr12:31120200-31121600	Enhancers	Left Ventricle	heart
50	chr12:31120200-31121600	Enhancers	Right Ventricle	heart

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