Variant report

Variant	nsv558551
Chromosome Location	chr12:38027832-38420380
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	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
2	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:
3	chr12:38092578..38093097-chr2:92306640..92307159,2	MCF-7	breast:
4	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
5	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
6	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
7	chr12:38143553..38144054-chr18:18519761..18520264,2	MCF-7	breast:
8	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
9	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163659	chromatin interactions
ENSG00000175548	chromatin interactions

Extended variants
information (count: 30325 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:30325 , 50 per page) page: 1 2 3 4 5 6 7 ... 607

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11170977	chr12:38027832-38027833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527553691	chr12:38027836-38027837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372201232	chr12:38027849-38027850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371010264	chr12:38027851-38027852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376815344	chr12:38027862-38027863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529867275	chr12:38027868-38027869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571791830	chr12:38027869-38027870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549050524	chr12:38027880-38027881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572964961	chr12:38027886-38027887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150038304	chr12:38027901-38027902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538360192	chr12:38027919-38027920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147886575	chr12:38027939-38027940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111363551	chr12:38027940-38027941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571654531	chr12:38027952-38027953	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192256364	chr12:38027967-38027968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200595131	chr12:38027977-38027978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201092874	chr12:38027986-38027987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534221974	chr12:38027997-38027998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182813868	chr12:38028010-38028011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79877705	chr12:38028022-38028023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78794361	chr12:38028023-38028024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554378244	chr12:38028024-38028025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75511875	chr12:38028028-38028029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75313104	chr12:38028030-38028031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79699981	chr12:38028034-38028035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78768771	chr12:38028035-38028036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574266319	chr12:38028037-38028038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113436626	chr12:38028038-38028039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187507277	chr12:38028045-38028046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76297357	chr12:38028065-38028066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79887062	chr12:38028073-38028074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199782186	chr12:38028076-38028077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74336816	chr12:38028093-38028094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76616564	chr12:38028095-38028096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556816087	chr12:38028098-38028099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80079645	chr12:38028103-38028104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79384406	chr12:38028107-38028108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545099014	chr12:38028110-38028111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73328921	chr12:38028111-38028112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75108937	chr12:38028114-38028115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76974063	chr12:38028118-38028119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79116138	chr12:38028126-38028127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77532836	chr12:38028130-38028131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77857282	chr12:38028135-38028136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79614074	chr12:38028138-38028139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74745078	chr12:38028150-38028151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78821616	chr12:38028159-38028160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75440313	chr12:38028160-38028161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78950137	chr12:38028162-38028163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79370987	chr12:38028163-38028164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:845 , 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	chr12:38012200-38031600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr12:38017400-38029000	Weak transcription	HSMMtube	muscle
5	chr12:38022800-38029600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:38026800-38038800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr12:38027000-38029400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr12:38027200-38029200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr12:38027200-38029400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:38027200-38029400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr12:38027400-38028000	ZNF genes & repeats	Brain Hippocampus Middle	brain
12	chr12:38027400-38028200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr12:38027400-38029200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr12:38027400-38029400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:38027600-38028800	Weak transcription	K562	blood
16	chr12:38027600-38028800	Weak transcription	NH-A	brain
17	chr12:38027600-38028800	Weak transcription	NHDF-Ad	bronchial
18	chr12:38027600-38029000	Weak transcription	NHLF	lung
19	chr12:38027800-38028800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:38027800-38028800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:38027800-38028800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:38027800-38028800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:38027800-38028800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:38027800-38028800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:38027800-38028800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:38027800-38028800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:38027800-38028800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:38027800-38028800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:38027800-38028800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:38027800-38028800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:38027800-38028800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:38027800-38028800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:38027800-38028800	Weak transcription	Aorta	Aorta
34	chr12:38027800-38028800	Weak transcription	Colonic Mucosa	Colon
35	chr12:38027800-38028800	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:38027800-38028800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:38027800-38028800	Weak transcription	Gastric	stomach
38	chr12:38027800-38028800	Weak transcription	Left Ventricle	heart
39	chr12:38027800-38028800	Weak transcription	Psoas Muscle	Psoas
40	chr12:38027800-38028800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:38027800-38028800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:38027800-38028800	Weak transcription	Stomach Mucosa	stomach
43	chr12:38027800-38028800	Weak transcription	HUVEC	blood vessel
44	chr12:38027800-38029000	Weak transcription	Ovary	ovary
45	chr12:38027800-38029000	Weak transcription	Right Ventricle	heart
46	chr12:38027800-38029000	Weak transcription	Small Intestine	intestine
47	chr12:38027800-38029000	Weak transcription	Thymus	Thymus
48	chr12:38028000-38029000	Weak transcription	NHEK	skin
49	chr12:38028200-38028600	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:38028200-38029400	ZNF genes & repeats	HepG2	liver

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