Variant report

Variant	nsv1053110
Chromosome Location	chr12:37971619-38186737
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	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
2	chr11:48862246..48863766-chr12:38036979..38038502,2	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	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:
6	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
7	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
8	chr12:38031911..38033432-chr6:58776341..58779018,2	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: 20930 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:20930 , 50 per page) page: 1 2 3 4 5 6 7 ... 419

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191644976	chr12:37982240-37982241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs184152560	chr12:37982272-37982273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539787709	chr12:37982295-37982296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs570275533	chr12:37982332-37982333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs539349206	chr12:37982341-37982342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141756210	chr12:37982352-37982353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572347747	chr12:37982359-37982360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534412719	chr12:37982362-37982363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76188630	chr12:37982435-37982436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574057392	chr12:37982473-37982474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543071603	chr12:37982476-37982477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7314829	chr12:37982478-37982479	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188557443	chr12:37982479-37982480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540328859	chr12:37982483-37982484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs546118341	chr12:37982500-37982501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs151245997	chr12:37989604-37989605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541320701	chr12:37989611-37989612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7301679	chr12:37989629-37989630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529936753	chr12:37989634-37989635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543126812	chr12:37989654-37989655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139278780	chr12:37989663-37989664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117058915	chr12:37989679-37989680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551763209	chr12:37989680-37989681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58039291	chr12:37989690-37989691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182852892	chr12:37989717-37989718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375329741	chr12:37989789-37989790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11169555	chr12:37989806-37989807	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145274717	chr12:37989810-37989811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536477901	chr12:37989840-37989841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556360719	chr12:37989863-37989864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569376078	chr12:37989873-37989874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538355520	chr12:37989895-37989896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558083027	chr12:37989896-37989897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572052063	chr12:37989905-37989906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146498976	chr12:37989906-37989907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540956104	chr12:37989909-37989910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554881474	chr12:37989933-37989934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574522780	chr12:37989941-37989942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543609598	chr12:37989947-37989948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374940920	chr12:37989950-37989951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386762126	chr12:37989956-37989957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563483942	chr12:37989962-37989963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77461296	chr12:37989969-37989970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74893713	chr12:37989970-37989971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545568546	chr12:37989976-37989977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368206548	chr12:37989981-37989982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376650497	chr12:37989988-37989989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565126923	chr12:37989989-37989990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538260561	chr12:37990001-37990002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76497717	chr12:37990013-37990014	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:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37982200-37982600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:37989600-37991400	Weak transcription	HUVEC	blood vessel
3	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr12:37990000-37990400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:37990000-37990400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
6	chr12:37990000-37990400	ZNF genes & repeats	Psoas Muscle	Psoas
7	chr12:37990000-37993400	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr12:37990400-37993600	Weak transcription	Psoas Muscle	Psoas
10	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:37991400-37991600	ZNF genes & repeats	HUVEC	blood vessel
12	chr12:37991400-37992200	ZNF genes & repeats	Fetal Heart	heart
13	chr12:37991400-37993200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr12:37991600-37992200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:37991600-37994000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr12:37991600-37994400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr12:37991800-37992200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr12:37991800-37992200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
19	chr12:37991800-37998200	Weak transcription	K562	blood
20	chr12:37993600-37994400	Active TSS	Psoas Muscle	Psoas
21	chr12:37995200-38003400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr12:37997200-38000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:37997400-37997800	ZNF genes & repeats	Fetal Brain Male	brain
24	chr12:37997400-37998400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:37997800-37998800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr12:37997800-38000200	ZNF genes & repeats	HepG2	liver
27	chr12:37998000-37998400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr12:37998000-37998600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr12:37998000-38002400	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr12:37998000-38002800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr12:37998200-37998400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:37998200-37998400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:37998200-37998400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:37998200-37998400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
37	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:37998200-37998400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
40	chr12:37998200-37998400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:37998200-37998400	Enhancers	Aorta	Aorta
42	chr12:37998200-37998400	ZNF genes & repeats	Liver	Liver
43	chr12:37998200-37998400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr12:37998200-37998400	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr12:37998200-37998400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
46	chr12:37998200-37998400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:37998200-37998400	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr12:37998200-37998400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr12:37998200-37998400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr12:37998200-37998400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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