Variant report

Variant	nsv558493
Chromosome Location	chr12:38009843-38258137
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
2	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
3	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
4	chr12:38143553..38144054-chr18:18519761..18520264,2	MCF-7	breast:
5	chr12:38092578..38093097-chr2:92306640..92307159,2	MCF-7	breast:
6	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
7	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
8	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
9	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163659	chromatin interactions
ENSG00000175548	chromatin interactions

Extended variants
information (count: 22950 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:22950 , 50 per page) page: 1 2 3 4 5 6 7 ... 459

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11503949	chr12:38009843-38009844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574695857	chr12:38009851-38009852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112746861	chr12:38009861-38009862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186079652	chr12:38009864-38009865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58066793	chr12:38009877-38009878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563818468	chr12:38009880-38009881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372607229	chr12:38009888-38009889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111647942	chr12:38009895-38009896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78958466	chr12:38009899-38009900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532891013	chr12:38009919-38009920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202019498	chr12:38009925-38009926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559958936	chr12:38009927-38009928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528712447	chr12:38009928-38009929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61922092	chr12:38009930-38009931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189507813	chr12:38009933-38009934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61922093	chr12:38009935-38009936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568153143	chr12:38009937-38009938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8189482	chr12:38009942-38009943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61922094	chr12:38009949-38009950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201528486	chr12:38009955-38009956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550595079	chr12:38009958-38009959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199555029	chr12:38009962-38009963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375168486	chr12:38009987-38009988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368139994	chr12:38009993-38009994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74666954	chr12:38010043-38010044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547106178	chr12:38010045-38010046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201408803	chr12:38010046-38010047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79455524	chr12:38010059-38010060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12814945	chr12:38010060-38010061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12830265	chr12:38010061-38010062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369189745	chr12:38010066-38010067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202032880	chr12:38010069-38010070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200828126	chr12:38010073-38010074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535639537	chr12:38010074-38010075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113687532	chr12:38010076-38010077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374348406	chr12:38010077-38010078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11519990	chr12:38010086-38010087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3956125	chr12:38010089-38010090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12815097	chr12:38010097-38010098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12815098	chr12:38010098-38010099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61922095	chr12:38010104-38010105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12824428	chr12:38010110-38010111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543435791	chr12:38010113-38010114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563700938	chr12:38010114-38010115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12830437	chr12:38010117-38010118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377746541	chr12:38010120-38010121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12815118	chr12:38010129-38010130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201604903	chr12:38010132-38010133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12824442	chr12:38010135-38010136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61922096	chr12:38010137-38010138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD

Chromatin state (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:38005800-38010800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr12:38006000-38010800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:38008800-38013600	Weak transcription	Psoas Muscle	Psoas
7	chr12:38008800-38013600	Weak transcription	NH-A	brain
8	chr12:38008800-38016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:38009400-38011600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:38009400-38011600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:38009400-38016200	Weak transcription	Small Intestine	intestine
12	chr12:38010200-38010600	ZNF genes & repeats	HUVEC	blood vessel
13	chr12:38010400-38010600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr12:38010400-38011000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:38010600-38011600	Weak transcription	HUVEC	blood vessel
16	chr12:38011200-38014800	ZNF genes & repeats	HepG2	liver
17	chr12:38011600-38011800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:38011600-38012000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
19	chr12:38011600-38012000	ZNF genes & repeats	Fetal Lung	lung
20	chr12:38011600-38012600	ZNF genes & repeats	HUVEC	blood vessel
21	chr12:38012000-38013600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:38012000-38016200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:38012200-38013600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:38012200-38031600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr12:38013200-38014000	ZNF genes & repeats	Liver	Liver
26	chr12:38013400-38014000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr12:38013400-38014000	ZNF genes & repeats	Brain Substantia Nigra	brain
28	chr12:38013600-38013800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
29	chr12:38013600-38013800	ZNF genes & repeats	NH-A	brain
30	chr12:38013600-38014000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:38013600-38014000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:38013600-38014000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:38013600-38014000	Active TSS	Aorta	Aorta
34	chr12:38013600-38014000	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr12:38013600-38014000	ZNF genes & repeats	Gastric	stomach
36	chr12:38013600-38014000	Active TSS	Psoas Muscle	Psoas
37	chr12:38013600-38016200	Weak transcription	Ovary	ovary
38	chr12:38013800-38016200	Weak transcription	NH-A	brain
39	chr12:38014000-38014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:38014000-38014800	Weak transcription	Psoas Muscle	Psoas
41	chr12:38014000-38015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:38014200-38015800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:38014400-38016000	Weak transcription	Stomach Mucosa	stomach
44	chr12:38014400-38016200	Weak transcription	Osteobl	bone
45	chr12:38014400-38017600	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr12:38014800-38015000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:38014800-38015200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr12:38014800-38015200	Active TSS	Psoas Muscle	Psoas
49	chr12:38015000-38015200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:38015000-38015200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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