Variant report

Variant	nsv560396
Chromosome Location	chr12:119737782-119765665
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:119739534..119741521-chr12:119743131..119745914,2	MCF-7	breast:
2	chr12:119764864..119767176-chr12:119782140..119784942,2	MCF-7	breast:
3	chr12:119739534..119741521-chr12:119743131..119745914,2	MCF-7	breast:
4	chr12:119765655..119766458-chr12:119850699..119851560,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CIT-2	chr12:119739414-119739836	XLOC_010217
2	lnc-CIT-2	chr12:119741140-119741185	XLOC_010217

No data

Extended variants
information (count: 1041 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2555271	chr12:119737782-119737783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545167999	chr12:119737787-119737788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187291095	chr12:119737840-119737841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35294193	chr12:119737860-119737861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191701503	chr12:119737876-119737877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540981196	chr12:119737888-119737889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145524657	chr12:119737899-119737900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183874669	chr12:119737910-119737911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148814832	chr12:119737926-119737927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544031266	chr12:119738050-119738051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563710785	chr12:119738131-119738132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532283251	chr12:119738132-119738133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551979273	chr12:119738137-119738138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34377878	chr12:119738141-119738142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76289942	chr12:119738142-119738143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565730908	chr12:119738143-119738144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530585647	chr12:119738147-119738148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528113606	chr12:119738152-119738153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548171341	chr12:119738165-119738166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550308184	chr12:119738173-119738174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375055429	chr12:119738178-119738179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568397012	chr12:119738219-119738220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537319917	chr12:119738227-119738228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368016255	chr12:119738331-119738332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148371309	chr12:119738338-119738339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570544324	chr12:119738492-119738493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189314137	chr12:119738592-119738593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374094715	chr12:119738620-119738621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573065404	chr12:119738636-119738637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533713284	chr12:119738644-119738645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142287568	chr12:119738669-119738670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529710287	chr12:119738688-119738689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193106983	chr12:119738724-119738725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145899917	chr12:119738772-119738773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2555267	chr12:119738782-119738783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563951386	chr12:119738795-119738796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368613429	chr12:119738884-119738885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs116231867	chr12:119738903-119738904	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs546346808	chr12:119738919-119738920	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs559514025	chr12:119738928-119738929	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs376535112	chr12:119738940-119738941	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs528174708	chr12:119739055-119739056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10849643	chr12:119739108-119739109	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs566751802	chr12:119739164-119739165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58157478	chr12:119739203-119739204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79434963	chr12:119739213-119739214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80069588	chr12:119739237-119739238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538870373	chr12:119739245-119739246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375747639	chr12:119739249-119739250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539271996	chr12:119739269-119739270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119729800-119746600	Weak transcription	Right Atrium	heart
2	chr12:119733400-119739000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:119737000-119740000	Weak transcription	Lung	lung
4	chr12:119738800-119739000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:119738800-119739000	Bivalent Enhancer	Fetal Brain Female	brain
6	chr12:119739000-119740200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:119739000-119741800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:119739200-119739400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:119739400-119740800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:119740000-119741200	Enhancers	Brain Germinal Matrix	brain
11	chr12:119740200-119740400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:119740200-119740400	Enhancers	Fetal Stomach	stomach
13	chr12:119740200-119740400	Enhancers	Lung	lung
14	chr12:119740200-119740600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:119740200-119740600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:119740200-119740600	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:119740200-119740600	Enhancers	Brain Substantia Nigra	brain
18	chr12:119740200-119740800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:119740200-119741000	Enhancers	Fetal Muscle Leg	muscle
20	chr12:119740200-119741200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:119740200-119741200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:119740200-119741200	Enhancers	Brain Anterior Caudate	brain
23	chr12:119740200-119741200	Enhancers	Brain Hippocampus Middle	brain
24	chr12:119740200-119741200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:119740400-119740600	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:119740400-119741000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:119740400-119741200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:119740600-119741000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:119740800-119741400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:119741000-119741200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:119741200-119746600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:119741200-119746600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:119741400-119741600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:119741800-119745600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:119744200-119744600	Enhancers	Esophagus	oesophagus
36	chr12:119744400-119744600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:119744400-119744600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:119744400-119744600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:119744600-119746600	Weak transcription	Esophagus	oesophagus
40	chr12:119744600-119746800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:119744800-119746600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:119745600-119745800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:119745800-119746000	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr12:119745800-119746200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:119746000-119747600	Enhancers	Fetal Muscle Trunk	muscle
46	chr12:119746000-119747600	Enhancers	Fetal Muscle Leg	muscle
47	chr12:119746200-119747200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:119746400-119746800	Enhancers	Adipose Nuclei	Adipose
49	chr12:119746400-119746800	Enhancers	Fetal Kidney	kidney
50	chr12:119746400-119747000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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