Variant report

Variant	nsv1050758
Chromosome Location	chr12:31110940-31137140
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: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	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
2	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
3	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
4	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
5	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
6	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
7	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
8	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
9	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
10	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
11	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
12	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
13	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
14	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
15	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
16	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
17	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
18	chr12:31114199..31115183-chr12:31138028..31138949,2	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: 1215 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1215 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73286448	chr12:31110941-31110942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554009315	chr12:31110942-31110943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376371493	chr12:31110951-31110952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373284659	chr12:31110986-31110987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200916382	chr12:31111101-31111102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398019088	chr12:31111103-31111104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181503626	chr12:31111142-31111143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185650099	chr12:31111177-31111178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191087620	chr12:31111228-31111229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576467660	chr12:31111248-31111249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76253209	chr12:31111301-31111302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111562495	chr12:31111345-31111346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532232690	chr12:31111381-31111382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58725913	chr12:31111389-31111390	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73088058	chr12:31111427-31111428	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529757481	chr12:31111457-31111458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547834883	chr12:31111458-31111459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147778840	chr12:31111467-31111468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141225666	chr12:31111483-31111484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183014704	chr12:31111580-31111581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11831683	chr12:31111593-31111594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1861918	chr12:31111618-31111619	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs146967737	chr12:31111630-31111631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77467015	chr12:31111637-31111638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536756713	chr12:31111638-31111639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187463891	chr12:31111692-31111693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576553701	chr12:31111710-31111711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377142182	chr12:31111715-31111716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192308637	chr12:31111731-31111732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565065637	chr12:31111743-31111744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370774319	chr12:31111764-31111765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577080081	chr12:31111785-31111786	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147918849	chr12:31111791-31111792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78335537	chr12:31111850-31111851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529798208	chr12:31111851-31111852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373730505	chr12:31111853-31111854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541564332	chr12:31111911-31111912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183281264	chr12:31111946-31111947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141069091	chr12:31111961-31111962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530459226	chr12:31111976-31111977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552168025	chr12:31112011-31112012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367616480	chr12:31112068-31112069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187559288	chr12:31112096-31112097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540120033	chr12:31112103-31112104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547735417	chr12:31112127-31112128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566319972	chr12:31112198-31112199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148981368	chr12:31112285-31112286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115558775	chr12:31112297-31112298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11051181	chr12:31112353-31112354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374624293	chr12:31112367-31112368	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:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
2	chr12:31100200-31111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:31100800-31111200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:31105800-31112200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:31105800-31116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:31106000-31111600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:31106000-31120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:31107600-31111200	Weak transcription	Right Ventricle	heart
9	chr12:31107800-31121400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:31108000-31130600	Weak transcription	Fetal Brain Female	brain
11	chr12:31108800-31117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:31109000-31117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:31111200-31111400	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:31111200-31111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:31111200-31111800	Enhancers	Right Ventricle	heart
16	chr12:31111200-31112000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:31111200-31112400	Enhancers	Lung	lung
18	chr12:31111600-31116200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:31112000-31115800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:31112200-31112400	Enhancers	Gastric	stomach
21	chr12:31112200-31113000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:31112200-31113000	Enhancers	Esophagus	oesophagus
23	chr12:31112400-31123200	Weak transcription	Lung	lung
24	chr12:31112400-31126000	Weak transcription	Gastric	stomach
25	chr12:31113000-31116600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:31113200-31113400	Enhancers	Spleen	Spleen
27	chr12:31113400-31123000	Weak transcription	Spleen	Spleen
28	chr12:31114800-31118200	Weak transcription	Brain Germinal Matrix	brain
29	chr12:31115800-31120800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:31116000-31116400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:31116200-31123200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:31116400-31120400	Enhancers	Fetal Heart	heart
33	chr12:31116400-31123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:31116600-31116800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:31116600-31116800	Bivalent Enhancer	Placenta	Placenta
36	chr12:31116600-31119600	Weak transcription	Fetal Brain Male	brain
37	chr12:31116800-31117200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:31116800-31118000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:31116800-31122600	Strong transcription	Fetal Stomach	stomach
40	chr12:31117000-31117200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:31117000-31121000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:31117200-31119200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:31117200-31128400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:31117400-31122800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:31118000-31118200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:31118000-31118200	Enhancers	Right Atrium	heart
47	chr12:31118000-31118400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:31118000-31118600	Enhancers	Fetal Muscle Leg	muscle
49	chr12:31118000-31119800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr12:31118200-31119400	Strong transcription	Brain Germinal Matrix	brain

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