Variant report

Variant	nsv899027
Chromosome Location	chr12:40388510-40428561
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40324732..40326472-chr12:40398965..40400889,3	MCF-7	breast:
2	chr12:40404668..40405271-chr12:40503732..40504617,2	MCF-7	breast:
3	chr12:40399921..40402831-chr12:40405268..40407402,2	MCF-7	breast:
4	chr12:40399921..40402831-chr12:40405268..40407402,2	MCF-7	breast:
5	12:40402537-40410050..12:40687302-40691796	GM12878	blood:
6	chr12:40428243..40430877-chr12:40432067..40435027,3	K562	blood:
7	chr12:40419862..40422582-chr12:40493466..40495715,2	K562	blood:
8	chr12:40427544..40429854-chr12:40484526..40486904,2	MCF-7	breast:
9	chr12:40404779..40405544-chr12:40501079..40501769,2	K562	blood:
10	chr12:40425499..40426450-chr12:40706505..40707111,2	MCF-7	breast:
11	chr12:40401380..40404194-chr12:40458458..40460119,2	K562	blood:
12	chr12:40200606..40201630-chr12:40404872..40405807,3	MCF-7	breast:
13	chr12:40413403..40416172-chr12:40500145..40501731,2	K562	blood:
14	12:40400312-40401438..12:40703633-40711447	GM12878	blood:
15	chr12:40324481..40326427-chr12:40398894..40400439,2	MCF-7	breast:
16	12:40402537-40410050..12:40793507-40812339	GM12878	blood:
17	12:40402537-40410050..12:40703633-40711447	GM12878	blood:
18	12:40402537-40410050..12:40497414-40501128	K562	blood:
19	chr12:40158566..40159336-chr12:40404675..40405547,2	MCF-7	breast:
20	chr12:40400651..40403072-chr12:40497922..40501179,3	MCF-7	breast:
21	chr12:40424834..40427522-chr12:40498279..40501048,3	MCF-7	breast:
22	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
23	12:40401438-40402537..12:40703633-40711447	GM12878	blood:
24	chr12:40324480..40325465-chr12:40399923..40400479,2	MCF-7	breast:
25	chr12:40425798..40426494-chr12:40501097..40501912,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000205592	chromatin interactions
ENSG00000188906	chromatin interactions
ENSG00000223082	chromatin interactions
ENSG00000151229	chromatin interactions

Extended variants
information (count: 1337 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7967369	chr12:40388510-40388511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550992145	chr12:40388543-40388544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28370750	chr12:40388549-40388550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149254274	chr12:40388610-40388611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527539341	chr12:40388630-40388631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143487159	chr12:40388688-40388689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61931492	chr12:40388870-40388871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191480625	chr12:40388915-40388916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148013503	chr12:40388934-40388935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7970812	chr12:40389055-40389056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs143595775	chr12:40389131-40389132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202141999	chr12:40389205-40389206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557430289	chr12:40389210-40389211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28370751	chr12:40389215-40389216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542958857	chr12:40389245-40389246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147195814	chr12:40389297-40389298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569997446	chr12:40389311-40389312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573256612	chr12:40389326-40389327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140564455	chr12:40389357-40389358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28370819	chr12:40389367-40389368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185205105	chr12:40389376-40389377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550855161	chr12:40389399-40389400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563157232	chr12:40389401-40389402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76677819	chr12:40389449-40389450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548928613	chr12:40389462-40389463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76069103	chr12:40389469-40389470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373205980	chr12:40389479-40389480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142892894	chr12:40389526-40389527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112141863	chr12:40389543-40389544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77862875	chr12:40389577-40389578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571455450	chr12:40389647-40389648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376991402	chr12:40389648-40389649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556976066	chr12:40389660-40389661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28370752	chr12:40389668-40389669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536268047	chr12:40389714-40389715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74626023	chr12:40389730-40389731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554935651	chr12:40389756-40389757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12816591	chr12:40389796-40389797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12814530	chr12:40389797-40389798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573286262	chr12:40389818-40389819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150808410	chr12:40389829-40389830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190104806	chr12:40389837-40389838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577033781	chr12:40389900-40389901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532725603	chr12:40389962-40389963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544352572	chr12:40389963-40389964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111667163	chr12:40390008-40390009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530404504	chr12:40390073-40390074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61931493	chr12:40390134-40390135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185594885	chr12:40390143-40390144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149990154	chr12:40390149-40390150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40364400-40391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:40366400-40390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40380800-40393400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:40384400-40391800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:40384400-40405200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:40384400-40405400	Weak transcription	Pancreas	Pancrea
7	chr12:40387400-40390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:40390200-40390600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr12:40390200-40393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:40390400-40390600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:40390400-40392200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:40391400-40391800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:40392200-40393200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:40393200-40394200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:40393400-40393600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:40393400-40394000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr12:40393400-40394400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
18	chr12:40393400-40405400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:40393800-40394200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:40393800-40396400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:40394000-40394800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr12:40394000-40405400	Weak transcription	Left Ventricle	heart
23	chr12:40394000-40410800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:40394200-40394400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:40394200-40394400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:40394200-40394400	ZNF genes & repeats	Hela-S3	cervix
27	chr12:40394200-40403800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:40394400-40395200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:40394400-40396000	Enhancers	A549	lung
30	chr12:40394400-40396200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:40394400-40405000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:40394400-40405200	Weak transcription	Hela-S3	cervix
33	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:40395200-40405400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:40395400-40396800	Enhancers	Liver	Liver
36	chr12:40396000-40396800	Enhancers	Stomach Mucosa	stomach
37	chr12:40396000-40397000	Enhancers	Fetal Intestine Large	intestine
38	chr12:40396000-40397000	Enhancers	Fetal Intestine Small	intestine
39	chr12:40396000-40397000	Flanking Active TSS	A549	lung
40	chr12:40396000-40397200	Enhancers	HepG2	liver
41	chr12:40396200-40396600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:40396200-40396800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr12:40396200-40397000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:40396400-40396600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:40396400-40396800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:40396600-40397000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:40397000-40397600	Enhancers	A549	lung
48	chr12:40402200-40425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:40403800-40404200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:40404200-40405000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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