Variant report

Variant	nsv898899
Chromosome Location	chr12:22024093-22044210
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	chr12:22034102..22036993-chr12:22040454..22043984,3	K562	blood:
2	chr12:22041351..22043151-chr12:22046321..22048748,2	MCF-7	breast:
3	chr12:22015594..22017294-chr12:22022518..22025494,2	MCF-7	breast:
4	chr12:22044149..22046273-chr12:22050074..22052072,2	K562	blood:
5	chr12:22034102..22036993-chr12:22040454..22043984,3	K562	blood:
6	chr12:22031693..22034334-chr13:31039008..31041172,2	MCF-7	breast:
7	chr12:22017240..22019751-chr12:22023346..22025897,2	K562	blood:
8	chr12:22035471..22036993-chr12:22040454..22042900,2	K562	blood:
9	chr12:22035471..22036993-chr12:22040454..22042900,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189403	chromatin interactions

Extended variants
information (count: 730 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4148669	chr12:22024093-22024094	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560676480	chr12:22024112-22024113	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs704202	chr12:22024142-22024143	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552924182	chr12:22024173-22024174	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112179175	chr12:22024180-22024181	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531376242	chr12:22024204-22024205	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191750672	chr12:22024245-22024246	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182537211	chr12:22024260-22024261	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533663127	chr12:22024310-22024311	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553798576	chr12:22024347-22024348	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186811436	chr12:22024430-22024431	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115179076	chr12:22024446-22024447	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562359323	chr12:22024508-22024509	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545979201	chr12:22024526-22024527	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576192764	chr12:22024532-22024533	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556070844	chr12:22024534-22024535	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370143426	chr12:22024538-22024539	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544638166	chr12:22024627-22024628	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554669312	chr12:22024691-22024692	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574735010	chr12:22024699-22024700	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1492137	chr12:22024709-22024710	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145026571	chr12:22024726-22024727	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114699866	chr12:22024739-22024740	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191325023	chr12:22024747-22024748	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185682066	chr12:22024778-22024779	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531915742	chr12:22024784-22024785	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190540518	chr12:22024793-22024794	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148689284	chr12:22024798-22024799	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143520676	chr12:22024811-22024812	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10437761	chr12:22024848-22024849	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570194355	chr12:22024902-22024903	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs704203	chr12:22025056-22025057	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141192965	chr12:22025079-22025080	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550050955	chr12:22025101-22025102	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34866588	chr12:22025113-22025114	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535394511	chr12:22025126-22025127	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568485521	chr12:22025144-22025145	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555601635	chr12:22025219-22025220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574761017	chr12:22025278-22025279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112501533	chr12:22025279-22025280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554348725	chr12:22025336-22025337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192990200	chr12:22025341-22025342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7980353	chr12:22025366-22025367	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs34924721	chr12:22025419-22025420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374491127	chr12:22025422-22025423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543572693	chr12:22025423-22025424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77450738	chr12:22025435-22025436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76133304	chr12:22025436-22025437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563083325	chr12:22025453-22025454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576548402	chr12:22025496-22025497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
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
Seminomas	18059402	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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:21995600-22034800	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:22003400-22026600	Weak transcription	Psoas Muscle	Psoas
4	chr12:22012200-22026400	Weak transcription	Fetal Heart	heart
5	chr12:22014800-22034800	Weak transcription	Ovary	ovary
6	chr12:22022200-22026200	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:22022400-22025000	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:22022400-22028600	Strong transcription	Liver	Liver
9	chr12:22023000-22026600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:22023200-22024800	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr12:22023600-22034800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:22023800-22024800	Strong transcription	Left Ventricle	heart
13	chr12:22024000-22024400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr12:22024000-22024800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:22024000-22025200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:22024000-22025400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:22024200-22024800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:22024200-22024800	ZNF genes & repeats	Aorta	Aorta
19	chr12:22024400-22034800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:22024800-22026400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:22024800-22037000	Weak transcription	Left Ventricle	heart
22	chr12:22024800-22044000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:22024800-22044800	Weak transcription	Aorta	Aorta
24	chr12:22025000-22033600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:22025200-22026600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:22025400-22025800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:22025400-22026400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:22025800-22034600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:22026200-22026400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:22026400-22026800	ZNF genes & repeats	Fetal Heart	heart
31	chr12:22026400-22027000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:22026400-22027000	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr12:22026400-22027800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:22026600-22027000	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr12:22026600-22027600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:22026600-22028600	Strong transcription	Adipose Nuclei	Adipose
37	chr12:22026800-22029400	Weak transcription	Fetal Heart	heart
38	chr12:22027000-22027600	Strong transcription	Psoas Muscle	Psoas
39	chr12:22027000-22034600	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:22027000-22041000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:22027600-22030400	Weak transcription	Psoas Muscle	Psoas
42	chr12:22027600-22046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:22027800-22031400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:22028600-22030600	Weak transcription	Adipose Nuclei	Adipose
45	chr12:22028600-22031400	Weak transcription	Liver	Liver
46	chr12:22029200-22029400	Enhancers	Fetal Lung	lung
47	chr12:22029400-22031200	Enhancers	Fetal Heart	heart
48	chr12:22029400-22040800	Weak transcription	Fetal Lung	lung
49	chr12:22029600-22030000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:22030000-22032800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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