Variant report

Variant	nsv1037275
Chromosome Location	chr12:31099937-31137140
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	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
2	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
3	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
4	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
5	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
6	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
7	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
8	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
9	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
10	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
11	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
12	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
13	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
14	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:
15	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
16	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
17	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
18	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
19	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
20	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
21	chr12:31121879..31124648-chr12:31129528..31132087,2	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: 1616 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1616 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144691872	chr12:31100041-31100042	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs531693550	chr12:31100047-31100048	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs573407519	chr12:31100158-31100159	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557341506	chr12:31100161-31100162	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs575207302	chr12:31100166-31100167	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79241898	chr12:31100195-31100196	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191675122	chr12:31100209-31100210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549913787	chr12:31100309-31100310	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs373495778	chr12:31100361-31100362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183403913	chr12:31100370-31100371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187190374	chr12:31100475-31100476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145763011	chr12:31100506-31100507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561656511	chr12:31100526-31100527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528965865	chr12:31100537-31100538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550367597	chr12:31100564-31100565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562523280	chr12:31100566-31100567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532907854	chr12:31100616-31100617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148866020	chr12:31100623-31100624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12303011	chr12:31100629-31100630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370180652	chr12:31100641-31100642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12303019	chr12:31100664-31100665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565917841	chr12:31100688-31100689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538924565	chr12:31100705-31100706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12303074	chr12:31100736-31100737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568528522	chr12:31100747-31100748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371611501	chr12:31100806-31100807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7135190	chr12:31100833-31100834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557130840	chr12:31100840-31100841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555011436	chr12:31100895-31100896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112341832	chr12:31100896-31100897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539439937	chr12:31100930-31100931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557677560	chr12:31100931-31100932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572779361	chr12:31100960-31100961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386761702	chr12:31101001-31101002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12310337	chr12:31101007-31101008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113792520	chr12:31101030-31101031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191602005	chr12:31101031-31101032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544296001	chr12:31101039-31101040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562525538	chr12:31101088-31101089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533008534	chr12:31101094-31101095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545001101	chr12:31101095-31101096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376872038	chr12:31101138-31101139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564805831	chr12:31101142-31101143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555886178	chr12:31101205-31101206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528812414	chr12:31101266-31101267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546951212	chr12:31101267-31101268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182321061	chr12:31101333-31101334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112134241	chr12:31101334-31101335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551095483	chr12:31101340-31101341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569006596	chr12:31101345-31101346	Weak transcription	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:392 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr12:31093800-31100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:31098000-31100000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:31098800-31106400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:31099200-31104800	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:31099600-31100400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:31099600-31105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:31099600-31116800	Weak transcription	Fetal Stomach	stomach
10	chr12:31100000-31100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:31100000-31104400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:31100200-31111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:31100800-31111200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:31101400-31105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:31102800-31103000	Enhancers	Right Atrium	heart
16	chr12:31102800-31103800	ZNF genes & repeats	Fetal Brain Female	brain
17	chr12:31103000-31103800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:31103000-31106400	Weak transcription	Right Atrium	heart
19	chr12:31103200-31104600	Weak transcription	Thymus	Thymus
20	chr12:31103800-31106000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:31103800-31106400	Weak transcription	Fetal Brain Female	brain
22	chr12:31104400-31104600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:31104400-31105200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr12:31104600-31104800	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:31104600-31105600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:31104600-31107800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:31104600-31108200	Enhancers	Thymus	Thymus
28	chr12:31104800-31105000	Enhancers	Brain Hippocampus Middle	brain
29	chr12:31105000-31105200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:31105000-31105400	Enhancers	Fetal Muscle Leg	muscle
31	chr12:31105000-31105800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:31105000-31105800	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:31105000-31106000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:31105000-31106200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:31105000-31106800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:31105000-31108200	Enhancers	Fetal Thymus	thymus
37	chr12:31105200-31105800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:31105200-31108200	Enhancers	Fetal Heart	heart
39	chr12:31105800-31108200	Enhancers	Brain Angular Gyrus	brain
40	chr12:31105800-31108200	Enhancers	Brain Cingulate Gyrus	brain
41	chr12:31105800-31108200	Enhancers	Brain Hippocampus Middle	brain
42	chr12:31105800-31112200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:31105800-31116000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:31106000-31106600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:31106000-31106600	Enhancers	GM12878-XiMat	blood
46	chr12:31106000-31106800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:31106000-31107000	Enhancers	HMEC	breast
48	chr12:31106000-31111600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:31106000-31120000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:31106200-31106600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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