Variant report

Variant	nsv1038823
Chromosome Location	chr12:34539309-34737766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
2	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
3	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
4	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
5	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
6	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
7	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:

Extended variants
information (count: 11064 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:11064 , 50 per page) page: 1 2 3 4 5 6 7 ... 222

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187128511	chr12:34539320-34539321	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs569199413	chr12:34539321-34539322	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs112961291	chr12:34539330-34539331	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs540037669	chr12:34539347-34539348	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs192410857	chr12:34539387-34539388	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs370306813	chr12:34539423-34539424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534145221	chr12:34539431-34539432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79878994	chr12:34539435-34539436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74074165	chr12:34539442-34539443	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376553573	chr12:34539459-34539460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs143911529	chr12:34539460-34539461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183965801	chr12:34539465-34539466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs545050261	chr12:34539476-34539477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs148561975	chr12:34539477-34539478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572243868	chr12:34539489-34539490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541208936	chr12:34539504-34539505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs557817465	chr12:34539538-34539539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561103194	chr12:34539556-34539557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187729703	chr12:34539557-34539558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140351675	chr12:34539562-34539563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370164128	chr12:34539565-34539566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551548007	chr12:34539585-34539586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562860587	chr12:34539587-34539588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs142909548	chr12:34539607-34539608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561786004	chr12:34539615-34539616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571384487	chr12:34539617-34539618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7489115	chr12:34539622-34539623	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547575787	chr12:34539625-34539626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs191303971	chr12:34539640-34539641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs544409979	chr12:34539651-34539652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs60174931	chr12:34539656-34539657	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569600562	chr12:34539657-34539658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7489130	chr12:34539674-34539675	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151124566	chr12:34539678-34539679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182369273	chr12:34539691-34539692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187177238	chr12:34539692-34539693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554755941	chr12:34539695-34539696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574553552	chr12:34539698-34539699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530588134	chr12:34539708-34539709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs7489132	chr12:34539712-34539713	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116383303	chr12:34539713-34539714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532464994	chr12:34539721-34539722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528442353	chr12:34539739-34539740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs192066574	chr12:34539762-34539763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73322123	chr12:34539763-34539764	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577082653	chr12:34539779-34539780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527778946	chr12:34539799-34539800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs61931991	chr12:34539800-34539801	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567809759	chr12:34539812-34539813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143633449	chr12:34539815-34539816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
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
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
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:34516800-34540800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:34517600-34546200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:34521200-34539600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr12:34525800-34556200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
6	chr12:34531200-34542600	ZNF genes & repeats	Spleen	Spleen
7	chr12:34538600-34558000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:34539200-34539400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:34541800-34542000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr12:34542000-34543200	Active TSS	Primary T cells from cord blood	blood
11	chr12:34542400-34545000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr12:34542600-34544800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr12:34543200-34545800	ZNF genes & repeats	Esophagus	oesophagus
14	chr12:34544400-34544600	Enhancers	K562	blood
15	chr12:34544400-34544800	ZNF genes & repeats	Liver	Liver
16	chr12:34544600-34545200	Flanking Active TSS	K562	blood
17	chr12:34545200-34545400	Active TSS	K562	blood
18	chr12:34545400-34545600	Bivalent/Poised TSS	K562	blood
19	chr12:34545400-34546400	ZNF genes & repeats	Gastric	stomach
20	chr12:34546600-34548200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:34547400-34548000	Active TSS	Primary T cells from cord blood	blood
22	chr12:34547800-34548000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr12:34548000-34551800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr12:34549000-34549200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr12:34549000-34550600	ZNF genes & repeats	Pancreas	Pancrea
26	chr12:34549000-34550800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr12:34549400-34560000	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr12:34549800-34560000	ZNF genes & repeats	Spleen	Spleen
29	chr12:34550200-34551000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
30	chr12:34550400-34552400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
31	chr12:34551000-34551400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:34551000-34552400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:34551000-34560200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr12:34553000-34553600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:34553000-34554200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr12:34554000-34554200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:34554800-34560400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:34555400-34560200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr12:34555600-34559400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
40	chr12:34555800-34556000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:34555800-34560200	ZNF genes & repeats	Gastric	stomach
42	chr12:34557800-34559800	ZNF genes & repeats	Colonic Mucosa	Colon
43	chr12:34558800-34560600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr12:34559200-34559600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr12:34559400-34560400	ZNF genes & repeats	Liver	Liver
46	chr12:34560800-34563600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:34561800-34562200	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr12:34564600-34572600	ZNF genes & repeats	Liver	Liver
49	chr12:34566800-34571000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr12:34569800-34576800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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