Variant report

Variant	nsv428280
Chromosome Location	chr12:40122713-40199621
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40158540..40159495-chr12:40351942..40352752,5	MCF-7	breast:
2	chr12:40195514..40197262-chr12:40498609..40500773,2	MCF-7	breast:
3	chr12:40161730..40164453-chr12:40368546..40370092,2	K562	blood:
4	chr12:40158893..40159412-chr12:40383653..40384584,2	K562	blood:
5	chr12:40158968..40161311-chr12:40166240..40167816,2	MCF-7	breast:
6	chr12:40154023..40155558-chr12:40243257..40245766,2	MCF-7	breast:
7	chr12:40158505..40159798-chr12:40501059..40502327,6	MCF-7	breast:
8	chr12:40158493..40159396-chr12:40384037..40384925,5	MCF-7	breast:
9	chr12:40158494..40159394-chr12:40706485..40707345,2	MCF-7	breast:
10	chr12:40150704..40153291-chr12:40154955..40157099,2	K562	blood:
11	chr12:40154707..40156485-chr12:40189200..40190990,2	MCF-7	breast:
12	chr12:40158566..40159336-chr12:40404675..40405547,2	MCF-7	breast:
13	chr12:40165086..40168049-chr12:40212824..40214791,2	MCF-7	breast:
14	chr12:40158520..40159448-chr12:40546284..40547792,5	MCF-7	breast:
15	chr12:40158968..40161311-chr12:40166240..40167816,2	MCF-7	breast:
16	chr12:40155001..40155717-chr12:40243633..40244224,2	MCF-7	breast:
17	chr12:40154707..40156485-chr12:40189200..40190990,2	MCF-7	breast:
18	chr12:40157295..40160338-chr12:40499150..40502228,3	MCF-7	breast:
19	chr12:40158518..40159407-chr12:40501012..40501936,2	K562	blood:
20	chr12:40150704..40153291-chr12:40154955..40157099,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCD2-4	chr12:40148896-40150095	NONHSAT027710

No data

Variant related genes	Relation type
ENSG00000188906	chromatin interactions
ENSG00000151229	chromatin interactions
ENSG00000199571	chromatin interactions

Extended variants
information (count: 2496 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2496 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571783752	chr12:40127413-40127414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567717778	chr12:40127426-40127427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537977230	chr12:40127429-40127430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112248915	chr12:40127476-40127477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs569310254	chr12:40127503-40127504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536843230	chr12:40127544-40127545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs554889403	chr12:40127549-40127550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147049120	chr12:40127563-40127564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs145197495	chr12:40127621-40127622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs552517764	chr12:40127622-40127623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116843431	chr12:40127644-40127645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs544733466	chr12:40127662-40127663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531098242	chr12:40127689-40127690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149128081	chr12:40127706-40127707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539740091	chr12:40127718-40127719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558109074	chr12:40127740-40127741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs368699117	chr12:40127747-40127748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561199464	chr12:40127752-40127753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187615023	chr12:40127769-40127770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs143194400	chr12:40127827-40127828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559187849	chr12:40127829-40127830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532648230	chr12:40127845-40127846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550836269	chr12:40127868-40127869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371409753	chr12:40127934-40127935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs192401483	chr12:40127947-40127948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373788767	chr12:40127998-40127999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371698338	chr12:40128001-40128002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566840071	chr12:40128002-40128003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs533007619	chr12:40128021-40128022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs540387698	chr12:40128022-40128023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148265913	chr12:40128024-40128025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538621221	chr12:40128032-40128033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs140356304	chr12:40128069-40128070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575280496	chr12:40128100-40128101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184362896	chr12:40128127-40128128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554774297	chr12:40128138-40128139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573175523	chr12:40128164-40128165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540490803	chr12:40128165-40128166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs561754736	chr12:40128175-40128176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112964366	chr12:40128193-40128194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs58418587	chr12:40129613-40129614	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191379950	chr12:40129623-40129624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144404795	chr12:40129654-40129655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183288812	chr12:40129680-40129681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76716615	chr12:40129775-40129776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541820483	chr12:40129808-40129809	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114815271	chr12:40129815-40129816	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572195556	chr12:40129828-40129829	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376196549	chr12:40129837-40129838	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186861952	chr12:40129838-40129839	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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	22522925	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40127400-40128200	ZNF genes & repeats	Liver	Liver
2	chr12:40127600-40128200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr12:40127800-40128200	ZNF genes & repeats	Pancreas	Pancrea
4	chr12:40129600-40130800	ZNF genes & repeats	Liver	Liver
5	chr12:40129800-40130800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:40130400-40130800	ZNF genes & repeats	Psoas Muscle	Psoas
7	chr12:40130400-40130800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr12:40130800-40133600	Weak transcription	Psoas Muscle	Psoas
9	chr12:40130800-40137000	Weak transcription	Liver	Liver
10	chr12:40130800-40156400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:40133600-40133800	ZNF genes & repeats	Psoas Muscle	Psoas
12	chr12:40136200-40136800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:40136800-40137200	ZNF genes & repeats	Aorta	Aorta
14	chr12:40137000-40137200	ZNF genes & repeats	Liver	Liver
15	chr12:40137000-40137200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr12:40137200-40145800	Weak transcription	Aorta	Aorta
17	chr12:40137200-40154200	Weak transcription	Liver	Liver
18	chr12:40143800-40156800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:40144200-40156200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:40144200-40157600	Weak transcription	Pancreas	Pancrea
21	chr12:40144600-40148800	Weak transcription	Gastric	stomach
22	chr12:40144800-40166400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:40145000-40175000	Weak transcription	Right Ventricle	heart
24	chr12:40145200-40154000	Weak transcription	Fetal Intestine Large	intestine
25	chr12:40145400-40146000	Weak transcription	Left Ventricle	heart
26	chr12:40145600-40145800	Weak transcription	Ovary	ovary
27	chr12:40145600-40157400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:40145800-40146200	ZNF genes & repeats	Aorta	Aorta
29	chr12:40145800-40146400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:40145800-40147000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:40145800-40147600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:40145800-40147800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:40145800-40148200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:40146000-40146200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:40146000-40146200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:40146000-40146200	ZNF genes & repeats	Left Ventricle	heart
37	chr12:40146000-40146600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:40146000-40147600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:40146000-40147600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:40146000-40147800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:40146000-40147800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:40146000-40148200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:40146000-40166800	Weak transcription	Ovary	ovary
44	chr12:40146200-40146400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:40146200-40147600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:40146200-40157200	Weak transcription	Aorta	Aorta
47	chr12:40146200-40157200	Weak transcription	Left Ventricle	heart
48	chr12:40146200-40159000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:40146400-40146600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:40146400-40146800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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