Variant report

Variant	nsv510603
Chromosome Location	chr12:75267275-75298527
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:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:75288611..75290146-chr12:75480757..75483259,2	MCF-7	breast:
2	chr12:75265553..75266182-chr12:75284813..75285350,2	MCF-7	breast:
3	chr12:75274838..75280839-chr12:75281596..75285487,6	MCF-7	breast:
4	chr12:75281709..75283225-chr12:75284800..75286954,2	MCF-7	breast:
5	chr12:75265973..75268779-chr12:75276386..75278367,2	MCF-7	breast:
6	chr12:75265811..75268299-chr12:75283552..75285832,3	MCF-7	breast:
7	chr12:75265749..75267789-chr12:75654308..75656117,2	MCF-7	breast:
8	chr12:75265148..75266148-chr12:75284786..75285669,4	MCF-7	breast:
9	chr12:75207717..75210514-chr12:75285038..75287810,2	MCF-7	breast:
10	chr12:75265343..75266283-chr12:75284674..75285457,4	MCF-7	breast:
11	chr12:75289946..75292091-chr12:75296334..75297885,2	MCF-7	breast:
12	chr12:75265973..75268779-chr12:75276386..75278367,2	MCF-7	breast:
13	chr12:75275843..75277770-chr12:75281940..75283697,2	MCF-7	breast:
14	chr12:75275843..75277770-chr12:75281940..75283697,2	MCF-7	breast:
15	chr12:75261101..75263206-chr12:75265458..75267858,3	MCF-7	breast:
16	chr12:75281709..75283225-chr12:75284800..75286954,2	MCF-7	breast:
17	chr12:75282404..75285246-chr12:75293318..75295641,2	MCF-7	breast:
18	chr12:75263638..75265960-chr12:75284735..75286598,2	MCF-7	breast:
19	chr12:75265811..75268299-chr12:75283552..75285832,3	MCF-7	breast:
20	chr12:75274838..75280839-chr12:75281596..75285487,6	MCF-7	breast:
21	chr12:75218292..75221665-chr12:75263288..75267484,3	MCF-7	breast:
22	chr12:75282404..75285246-chr12:75293318..75295641,2	MCF-7	breast:
23	chr12:75289946..75292091-chr12:75296334..75297885,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATXN7L3B-6	chr12:75274976-75275109	NONHSAT029513
2	lnc-ATXN7L3B-6	chr12:75268314-75268393	NONHSAT029513

No data

Extended variants
information (count: 595 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576224046	chr12:75268201-75268202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528787542	chr12:75268220-75268221	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139877548	chr12:75268255-75268256	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs10657568	chr12:75268256-75268257	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs63441960	chr12:75268257-75268258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs58032538	chr12:75268258-75268259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541653295	chr12:75268299-75268300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561816858	chr12:75268301-75268302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182740693	chr12:75268310-75268311	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs114820603	chr12:75268336-75268337	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs35131435	chr12:75268414-75268415	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369957371	chr12:75268432-75268433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs564502938	chr12:75268433-75268434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533160955	chr12:75268484-75268485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146842941	chr12:75268486-75268487	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550493224	chr12:75268520-75268521	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570250870	chr12:75268537-75268538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187708859	chr12:75268577-75268578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559909803	chr12:75268629-75268630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568296696	chr12:75268630-75268631	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200134837	chr12:75268648-75268649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148877176	chr12:75268660-75268661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191341149	chr12:75268667-75268668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565901408	chr12:75268689-75268690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs373806557	chr12:75268703-75268704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553427868	chr12:75268712-75268713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576805742	chr12:75268721-75268722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs376815093	chr12:75268815-75268816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539053406	chr12:75268821-75268822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs369704708	chr12:75268854-75268855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556465992	chr12:75268875-75268876	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377124244	chr12:75268880-75268881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113543012	chr12:75268885-75268886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561877870	chr12:75268896-75268897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs572249837	chr12:75268900-75268901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs541575470	chr12:75268946-75268947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs564417302	chr12:75268951-75268952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533414923	chr12:75268955-75268956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs377571982	chr12:75268976-75268977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549911352	chr12:75268977-75268978	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563659713	chr12:75268981-75268982	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370871880	chr12:75268989-75268990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184597178	chr12:75269005-75269006	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189338073	chr12:75269016-75269017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs370484712	chr12:75269023-75269024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112469022	chr12:75269026-75269027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs565959213	chr12:75269040-75269041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374937016	chr12:75269070-75269071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs528644977	chr12:75269072-75269073	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547130657	chr12:75269100-75269101	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75268200-75268600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:75268400-75269000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:75268400-75269000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:75268600-75269000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:75268600-75269000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:75268600-75269200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:75268600-75269200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:75281600-75282000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:75282000-75282600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:75282600-75283200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:75282600-75283400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:75282600-75283600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:75282600-75283600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:75282800-75283000	Enhancers	A549	lung
15	chr12:75282800-75283400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:75282800-75283400	Enhancers	NH-A	brain
17	chr12:75282800-75283600	Enhancers	HUVEC	blood vessel
18	chr12:75282800-75284000	Enhancers	Fetal Intestine Large	intestine
19	chr12:75282800-75285200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:75283000-75283200	Enhancers	Primary T cells from cord blood	blood
21	chr12:75283000-75283200	Enhancers	Osteobl	bone
22	chr12:75283000-75283400	Enhancers	Hela-S3	cervix
23	chr12:75283000-75283600	Enhancers	HSMM	muscle
24	chr12:75283000-75283600	Enhancers	NHEK	skin
25	chr12:75283000-75283800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:75283000-75284000	Enhancers	Colon Smooth Muscle	Colon
27	chr12:75283000-75284000	Enhancers	Fetal Intestine Small	intestine
28	chr12:75283000-75284000	Flanking Active TSS	A549	lung
29	chr12:75283000-75284000	Enhancers	HSMMtube	muscle
30	chr12:75283000-75284000	Enhancers	NHLF	lung
31	chr12:75283000-75284400	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:75283000-75285200	Enhancers	HMEC	breast
33	chr12:75283000-75285400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:75283000-75287000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:75283200-75283600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:75283200-75283800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:75283200-75284000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:75283200-75284000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:75283200-75284000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:75283200-75284000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr12:75283200-75284000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr12:75283200-75284000	Flanking Active TSS	Osteobl	bone
43	chr12:75283200-75284200	Weak transcription	Primary T cells from cord blood	blood
44	chr12:75283200-75284200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:75283200-75284400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:75283200-75287400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:75283400-75283800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:75283400-75284000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:75283400-75284000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:75283400-75284000	Flanking Active TSS	Hela-S3	cervix

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