Variant report

Variant	nsv1053603
Chromosome Location	chr12:40082673-40197609
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:1)
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	chr12:40195514..40197262-chr12:40498609..40500773,2	MCF-7	breast:
2	chr12:40150704..40153291-chr12:40154955..40157099,2	K562	blood:
3	chr12:40158493..40159396-chr12:40384037..40384925,5	MCF-7	breast:
4	chr12:40154023..40155558-chr12:40243257..40245766,2	MCF-7	breast:
5	chr12:40041383..40044331-chr12:40082931..40085850,2	K562	blood:
6	chr12:40155001..40155717-chr12:40243633..40244224,2	MCF-7	breast:
7	chr12:40158540..40159495-chr12:40351942..40352752,5	MCF-7	breast:
8	chr12:40158968..40161311-chr12:40166240..40167816,2	MCF-7	breast:
9	chr12:40154707..40156485-chr12:40189200..40190990,2	MCF-7	breast:
10	chr12:40154707..40156485-chr12:40189200..40190990,2	MCF-7	breast:
11	chr12:40158520..40159448-chr12:40546284..40547792,5	MCF-7	breast:
12	chr12:40158518..40159407-chr12:40501012..40501936,2	K562	blood:
13	chr12:40158494..40159394-chr12:40706485..40707345,2	MCF-7	breast:
14	chr12:40150704..40153291-chr12:40154955..40157099,2	K562	blood:
15	chr12:40157295..40160338-chr12:40499150..40502228,3	MCF-7	breast:
16	chr12:40158566..40159336-chr12:40404675..40405547,2	MCF-7	breast:
17	chr12:40161730..40164453-chr12:40368546..40370092,2	K562	blood:
18	chr12:40158968..40161311-chr12:40166240..40167816,2	MCF-7	breast:
19	chr12:40165086..40168049-chr12:40212824..40214791,2	MCF-7	breast:
20	chr12:40158505..40159798-chr12:40501059..40502327,6	MCF-7	breast:
21	chr12:40158893..40159412-chr12:40383653..40384584,2	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
ENSG00000199571	chromatin interactions
ENSG00000151229	chromatin interactions

Extended variants
information (count: 3394 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3394 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559054849	chr12:40082717-40082718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569745310	chr12:40082726-40082727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537390142	chr12:40082760-40082761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192656979	chr12:40082769-40082770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530576615	chr12:40082776-40082777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574005430	chr12:40082781-40082782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184738031	chr12:40082815-40082816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553065989	chr12:40082893-40082894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111715194	chr12:40082916-40082917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78028438	chr12:40082919-40082920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577968851	chr12:40083011-40083012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12812085	chr12:40083022-40083023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190197329	chr12:40083027-40083028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557179116	chr12:40083039-40083040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575741517	chr12:40083069-40083070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533072025	chr12:40083211-40083212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377596478	chr12:40083212-40083213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35671142	chr12:40083230-40083231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141962330	chr12:40083288-40083289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192759033	chr12:40083315-40083316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545106585	chr12:40083336-40083337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71449734	chr12:40083397-40083398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369260488	chr12:40083434-40083435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150662502	chr12:40083515-40083516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118007842	chr12:40083516-40083517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528346140	chr12:40083537-40083538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569720710	chr12:40083554-40083555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536799219	chr12:40083589-40083590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117678593	chr12:40083618-40083619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530595911	chr12:40083621-40083622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542372451	chr12:40083629-40083630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567413470	chr12:40083642-40083643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546917834	chr12:40083649-40083650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184168202	chr12:40083701-40083702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552902710	chr12:40083775-40083776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571304622	chr12:40083785-40083786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561822895	chr12:40083818-40083819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140097690	chr12:40083821-40083822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373566251	chr12:40083824-40083825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557161414	chr12:40083825-40083826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529140457	chr12:40083853-40083854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575825010	chr12:40083864-40083865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561010444	chr12:40083867-40083868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189983805	chr12:40083901-40083902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143689183	chr12:40083942-40083943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528150909	chr12:40083946-40083947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540922604	chr12:40083958-40083959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559428135	chr12:40083983-40083984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548718425	chr12:40084097-40084098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181188613	chr12:40084099-40084100	Weak transcription	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:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40077600-40085000	Weak transcription	Primary T cells from cord blood	blood
2	chr12:40078800-40085200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:40080400-40085400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:40080600-40085200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:40081000-40085400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:40082200-40085200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:40082200-40086400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:40082400-40085200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:40085000-40085200	Enhancers	Primary T cells from cord blood	blood
10	chr12:40085200-40085600	Weak transcription	Primary T cells from cord blood	blood
11	chr12:40085200-40085800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:40085200-40085800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:40085200-40086200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:40085200-40086600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:40085400-40086400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:40085400-40086400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:40085600-40086000	Enhancers	Primary T cells from cord blood	blood
18	chr12:40086200-40090000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:40086400-40086600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:40104000-40105400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:40106400-40107400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr12:40106400-40108000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr12:40107200-40108400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr12:40108400-40108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:40112400-40113200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:40112600-40113200	Enhancers	Brain Germinal Matrix	brain
27	chr12:40113200-40116600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:40116200-40116400	Enhancers	GM12878-XiMat	blood
29	chr12:40116600-40117200	Enhancers	Fetal Muscle Leg	muscle
30	chr12:40116600-40118200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:40117200-40117600	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:40117200-40118400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:40117400-40118000	Enhancers	HMEC	breast
34	chr12:40117400-40118200	Enhancers	HSMM	muscle
35	chr12:40117400-40118200	Enhancers	HSMMtube	muscle
36	chr12:40117600-40118000	Enhancers	NHEK	skin
37	chr12:40117600-40118200	Enhancers	Fetal Muscle Leg	muscle
38	chr12:40117800-40118200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:40117800-40118200	Enhancers	Osteobl	bone
40	chr12:40127400-40128200	ZNF genes & repeats	Liver	Liver
41	chr12:40127600-40128200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr12:40127800-40128200	ZNF genes & repeats	Pancreas	Pancrea
43	chr12:40129600-40130800	ZNF genes & repeats	Liver	Liver
44	chr12:40129800-40130800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:40130400-40130800	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr12:40130400-40130800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr12:40130800-40133600	Weak transcription	Psoas Muscle	Psoas
48	chr12:40130800-40137000	Weak transcription	Liver	Liver
49	chr12:40130800-40156400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:40133600-40133800	ZNF genes & repeats	Psoas Muscle	Psoas

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