Variant report

Variant	nsv558446
Chromosome Location	chr12:38000309-38195942
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	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
2	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
3	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
4	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
5	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
6	chr12:38092578..38093097-chr2:92306640..92307159,2	MCF-7	breast:
7	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:
8	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
9	chr12:38143553..38144054-chr18:18519761..18520264,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175548	chromatin interactions
ENSG00000163659	chromatin interactions

Extended variants
information (count: 20123 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:20123 , 50 per page) page: 1 2 3 4 5 6 7 ... 403

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11486312	chr12:38000309-38000310	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11486313	chr12:38000312-38000313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113068370	chr12:38000323-38000324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113102051	chr12:38000340-38000341	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113420150	chr12:38000342-38000343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545831616	chr12:38000347-38000348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183317659	chr12:38000354-38000355	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200022951	chr12:38000404-38000405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77410982	chr12:38000405-38000406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201629700	chr12:38000407-38000408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528390300	chr12:38000422-38000423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77724789	chr12:38000451-38000452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75907811	chr12:38000453-38000454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75286807	chr12:38000456-38000457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75002127	chr12:38000466-38000467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187294390	chr12:38000467-38000468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79087601	chr12:38000468-38000469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548073978	chr12:38000476-38000477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143020931	chr12:38000483-38000484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113530128	chr12:38000493-38000494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11488842	chr12:38000495-38000496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199700820	chr12:38000496-38000497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184039473	chr12:38000511-38000512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569828364	chr12:38000512-38000513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79846918	chr12:38000520-38000521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200767712	chr12:38000533-38000534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80027642	chr12:38000540-38000541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200439904	chr12:38000562-38000563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184134764	chr12:38000573-38000574	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538605515	chr12:38000589-38000590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201768236	chr12:38000592-38000593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190787885	chr12:38000597-38000598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115495098	chr12:38000613-38000614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566242775	chr12:38000614-38000615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200179832	chr12:38000618-38000619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535371268	chr12:38000621-38000622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540351232	chr12:38000624-38000625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199574068	chr12:38000637-38000638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575007399	chr12:38000669-38000670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111309582	chr12:38000678-38000679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555135357	chr12:38000682-38000683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61921085	chr12:38000684-38000685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557060896	chr12:38000700-38000701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373272595	chr12:38000706-38000707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61921086	chr12:38000710-38000711	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577021808	chr12:38000711-38000712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201443541	chr12:38000717-38000718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61921087	chr12:38000719-38000720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376939730	chr12:38000721-38000722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200796319	chr12:38000727-38000728	ZNF genes & repeats 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
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

Chromatin state (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	chr12:37995200-38003400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr12:37998000-38002400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr12:37998000-38002800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr12:37999400-38001000	ZNF genes & repeats	HUVEC	blood vessel
8	chr12:37999400-38004200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr12:38000000-38002200	Weak transcription	Stomach Mucosa	stomach
10	chr12:38000800-38001000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:38000800-38001000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:38001000-38002200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:38002000-38002200	ZNF genes & repeats	HSMMtube	muscle
14	chr12:38002000-38002400	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr12:38002000-38003400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:38002200-38002600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:38002200-38002600	ZNF genes & repeats	Left Ventricle	heart
18	chr12:38002200-38002600	ZNF genes & repeats	Stomach Mucosa	stomach
19	chr12:38002600-38008400	Weak transcription	Stomach Mucosa	stomach
20	chr12:38002800-38003200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr12:38003800-38009600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr12:38004600-38004800	Active TSS	Aorta	Aorta
23	chr12:38005800-38010800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr12:38006000-38010800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:38006600-38007200	ZNF genes & repeats	NH-A	brain
26	chr12:38006600-38007400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:38006600-38007400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:38006600-38007400	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr12:38006600-38007400	Active TSS	Aorta	Aorta
30	chr12:38006600-38007400	ZNF genes & repeats	Fetal Heart	heart
31	chr12:38006600-38007400	ZNF genes & repeats	Dnd41	blood
32	chr12:38006600-38007600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr12:38006800-38007000	ZNF genes & repeats	A549	lung
34	chr12:38006800-38007400	ZNF genes & repeats	NHLF	lung
35	chr12:38006800-38009400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr12:38006800-38009400	ZNF genes & repeats	Liver	Liver
37	chr12:38007000-38007400	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr12:38007000-38009000	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr12:38007200-38008400	Weak transcription	NH-A	brain
40	chr12:38007400-38008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:38007400-38008400	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:38007400-38008400	Weak transcription	Fetal Heart	heart
43	chr12:38007400-38008400	Weak transcription	Dnd41	blood
44	chr12:38007800-38009200	ZNF genes & repeats	HepG2	liver
45	chr12:38008000-38009400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr12:38008200-38008400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:38008200-38009400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr12:38008400-38008600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr12:38008400-38008600	Active TSS	Lung	lung
50	chr12:38008400-38008600	ZNF genes & repeats	Osteobl	bone

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