Variant report

Variant	nsv541436
Chromosome Location	chr12:30147993-30344670
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:29704988..29706078-chr12:30286679..30287383,3	MCF-7	breast:
2	chr12:29705003..29705553-chr12:30288330..30288940,2	MCF-7	breast:
3	chr12:30161244..30163502-chr12:30164390..30167375,2	K562	blood:
4	chr12:30307525..30310508-chr12:30315898..30318662,2	K562	blood:
5	chr12:30161244..30163502-chr12:30164390..30167375,2	K562	blood:
6	chr10:66245243..66246004-chr12:30303874..30304490,2	MCF-7	breast:
7	chr12:30213828..30214334-chr3:150320315..150321086,2	K562	blood:
8	chr12:30307525..30310508-chr12:30315898..30318662,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120742	chromatin interactions
ENSG00000198843	chromatin interactions

Extended variants
information (count: 5196 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5196 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564078804	chr12:30152437-30152438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528394320	chr12:30152452-30152453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546618106	chr12:30152510-30152511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35611038	chr12:30152578-30152579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55979029	chr12:30152579-30152580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562011574	chr12:30152659-30152660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528909159	chr12:30152664-30152665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538680031	chr12:30152693-30152694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547290568	chr12:30152703-30152704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2647380	chr12:30152737-30152738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137915049	chr12:30152748-30152749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539099063	chr12:30152834-30152835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367613008	chr12:30152851-30152852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182352429	chr12:30152866-30152867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565901862	chr12:30152872-30152873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541169036	chr12:30152877-30152878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553290412	chr12:30152923-30152924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142356010	chr12:30152949-30152950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371652737	chr12:30152989-30152990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186349331	chr12:30152993-30152994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554490838	chr12:30153024-30153025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191143371	chr12:30153028-30153029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111773731	chr12:30153029-30153030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558867872	chr12:30153037-30153038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182975360	chr12:30153054-30153055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577286151	chr12:30153098-30153099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544078055	chr12:30153102-30153103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12580070	chr12:30153121-30153122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79419319	chr12:30153154-30153155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559579732	chr12:30153201-30153202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546278172	chr12:30153210-30153211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575007309	chr12:30153234-30153235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7313472	chr12:30153329-30153330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74400122	chr12:30153370-30153371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540399174	chr12:30153372-30153373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375482010	chr12:30153389-30153390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575989273	chr12:30153452-30153453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543445097	chr12:30153504-30153505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529118322	chr12:30153619-30153620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550164130	chr12:30153677-30153678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562104371	chr12:30153753-30153754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566468615	chr12:30153773-30153774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1909155	chr12:30153785-30153786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs551235147	chr12:30153824-30153825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1909154	chr12:30153844-30153845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528716836	chr12:30153875-30153876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547139892	chr12:30153878-30153879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557752152	chr12:30153959-30153960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76204153	chr12:30154016-30154017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568678764	chr12:30154017-30154018	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30152400-30153800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:30152600-30153800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:30152800-30154200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:30153400-30153800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:30153600-30154000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:30154200-30156800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:30155400-30155600	Enhancers	Hela-S3	cervix
8	chr12:30155600-30156200	Weak transcription	Hela-S3	cervix
9	chr12:30156200-30156800	Enhancers	Hela-S3	cervix
10	chr12:30156800-30157200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:30157000-30157200	Enhancers	Aorta	Aorta
12	chr12:30157200-30158400	Weak transcription	Aorta	Aorta
13	chr12:30157200-30163400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:30158400-30159600	Enhancers	Aorta	Aorta
15	chr12:30159400-30159600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:30159600-30162000	Weak transcription	Aorta	Aorta
17	chr12:30159800-30166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:30162000-30162200	Enhancers	Aorta	Aorta
19	chr12:30162200-30175400	Weak transcription	Aorta	Aorta
20	chr12:30162800-30164000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:30163000-30164000	Enhancers	NH-A	brain
22	chr12:30163200-30164000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:30163200-30164400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:30163400-30164000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:30163600-30164000	Enhancers	Fetal Kidney	kidney
26	chr12:30164000-30168800	Weak transcription	Fetal Kidney	kidney
27	chr12:30164400-30165800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:30164600-30169600	Enhancers	Fetal Brain Male	brain
29	chr12:30165800-30166000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:30166000-30166200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:30166000-30166800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:30166200-30166400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:30166200-30169000	Enhancers	Fetal Brain Female	brain
34	chr12:30166400-30167400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:30166400-30167600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:30166600-30166800	Enhancers	Fetal Muscle Leg	muscle
37	chr12:30166800-30168800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:30166800-30171600	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:30167200-30168000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:30167400-30167600	Weak transcription	Gastric	stomach
41	chr12:30167400-30167800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:30167400-30167800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:30167400-30169200	Enhancers	Fetal Lung	lung
44	chr12:30167600-30167800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:30167600-30167800	Enhancers	Gastric	stomach
46	chr12:30167800-30168800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:30167800-30168800	Weak transcription	Gastric	stomach
48	chr12:30168000-30168400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:30168200-30168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:30168400-30169200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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