Variant report

Variant	nsv975551
Chromosome Location	chr12:123888322-123897046
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123878393..123880843-chr12:123888077..123890359,3	MCF-7	breast:
2	chr12:123871220..123876084-chr12:123892723..123900288,8	K562	blood:
3	chr12:123874129..123877186-chr12:123887527..123889148,3	MCF-7	breast:
4	chr12:123889075..123892344-chr12:123892398..123894933,4	K562	blood:
5	chr12:123889675..123891640-chr12:123898975..123901256,2	MCF-7	breast:
6	chr12:123886695..123888203-chr12:123890596..123893402,2	K562	blood:
7	chr12:123881479..123883562-chr12:123887318..123890802,3	MCF-7	breast:
8	chr12:123886854..123888790-chr12:123919794..123921388,2	MCF-7	breast:
9	chr12:123891872..123893382-chr12:123894921..123897058,2	MCF-7	breast:
10	chr12:123894977..123897408-chr12:124087588..124090570,2	MCF-7	breast:
11	chr12:123891872..123893382-chr12:123894921..123897058,2	MCF-7	breast:
12	chr12:123889002..123891622-chr12:123895728..123898606,2	K562	blood:
13	chr12:123889713..123892231-chr12:123892398..123893927,2	K562	blood:
14	chr12:123867246..123869776-chr12:123896994..123899843,2	K562	blood:
15	chr12:123889002..123891622-chr12:123895728..123898606,2	K562	blood:
16	chr12:123889075..123892344-chr12:123892398..123894933,4	K562	blood:
17	chr12:123889713..123892231-chr12:123892398..123893927,2	K562	blood:
18	chr12:123892437..123894843-chr12:124070809..124073314,2	MCF-7	breast:
19	chr12:123873393..123875666-chr12:123886945..123889757,3	K562	blood:
20	chr12:123873871..123875474-chr12:123888257..123890941,2	K562	blood:

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SETD8	hsa-miR-127-3p	chr12:123893741-123893763
2	SETD8	hsa-miR-7-5p	chr12:123892771-123892794
3	SETD8	hsa-miR-7-5p	chr12:123893704-123893710
4	SETD8	hsa-miR-7-5p	chr12:123892504-123892526
5	SETD8	hsa-miR-7-5p	chr12:123892787-123892793
6	SETD8	hsa-miR-186-5p	chr12:123892964-123892988
7	SETD8	hsa-miR-186-5p	chr12:123892981-123892988
8	SETD8	hsa-miR-7-5p	chr12:123893689-123893711
9	SETD8	hsa-miR-127-3p	chr12:123893756-123893763

Variant related genes	Relation type
ENSG00000150977	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000183955	chromatin interactions

Extended variants
information (count: 406 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190389733	chr12:123888364-123888365	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531722222	chr12:123888372-123888373	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567116235	chr12:123888447-123888448	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538538520	chr12:123888454-123888455	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556627956	chr12:123888458-123888459	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369355732	chr12:123888463-123888464	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112581966	chr12:123888503-123888504	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536479573	chr12:123888538-123888539	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142464123	chr12:123888541-123888542	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540425743	chr12:123888555-123888556	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549185937	chr12:123888674-123888675	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564927038	chr12:123888702-123888703	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532311931	chr12:123888724-123888725	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185790660	chr12:123888751-123888752	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544086426	chr12:123888766-123888767	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562172608	chr12:123888832-123888833	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114613486	chr12:123888878-123888879	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547752370	chr12:123888912-123888913	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566574271	chr12:123888926-123888927	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189545711	chr12:123888954-123888955	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35314848	chr12:123889013-123889014	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570939607	chr12:123889064-123889065	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538565270	chr12:123889066-123889067	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115269507	chr12:123889090-123889091	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs180732511	chr12:123889160-123889161	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534675014	chr12:123889204-123889205	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558139285	chr12:123889248-123889249	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140278598	chr12:123889253-123889254	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562337222	chr12:123889257-123889258	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572546562	chr12:123889328-123889329	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545970406	chr12:123889356-123889357	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558751500	chr12:123889360-123889361	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374289078	chr12:123889390-123889391	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368240391	chr12:123889396-123889397	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372154963	chr12:123889404-123889405	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs202144633	chr12:123889414-123889415	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs61955122	chr12:123889433-123889434	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144240533	chr12:123889442-123889443	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201563672	chr12:123889444-123889445	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112148765	chr12:123889454-123889455	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs61955123	chr12:123889486-123889487	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs61955124	chr12:123889492-123889493	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs367784100	chr12:123889511-123889512	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371352371	chr12:123889514-123889515	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200501247	chr12:123889523-123889524	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529899431	chr12:123889532-123889533	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115364385	chr12:123889535-123889536	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377305480	chr12:123889554-123889555	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114151192	chr12:123889559-123889560	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369912330	chr12:123889560-123889561	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123875200-123894400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123875600-123894200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:123875600-123895600	Strong transcription	Fetal Thymus	thymus
4	chr12:123875800-123894000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:123876400-123894800	Strong transcription	Fetal Intestine Small	intestine
6	chr12:123876600-123894800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:123877400-123889000	Weak transcription	Fetal Heart	heart
8	chr12:123877400-123895600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:123881600-123888400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:123881600-123888600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:123881600-123889000	Weak transcription	Fetal Brain Male	brain
12	chr12:123881800-123888800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:123881800-123889000	Weak transcription	Fetal Kidney	kidney
14	chr12:123882000-123888600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:123882000-123911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:123883200-123895400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:123883800-123894200	Strong transcription	HUVEC	blood vessel
18	chr12:123883800-123895200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:123884000-123888800	Weak transcription	Psoas Muscle	Psoas
20	chr12:123884200-123892800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:123884200-123895200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:123886000-123895200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:123886000-123895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:123886200-123892000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:123886200-123892000	Strong transcription	Primary T cells from cord blood	blood
26	chr12:123886200-123894200	Strong transcription	Fetal Intestine Large	intestine
27	chr12:123886200-123894800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:123886200-123895200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:123886200-123895200	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:123886200-123895200	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:123886200-123895200	Strong transcription	Dnd41	blood
32	chr12:123886200-123895400	Strong transcription	Fetal Brain Female	brain
33	chr12:123886400-123888800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:123886400-123889200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:123886400-123889200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:123886400-123890200	Strong transcription	Placenta	Placenta
37	chr12:123886400-123891000	Strong transcription	Hela-S3	cervix
38	chr12:123886400-123892200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:123886400-123892200	Strong transcription	Brain Germinal Matrix	brain
40	chr12:123886400-123892400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:123886400-123893400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr12:123886400-123894200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:123886400-123894200	Strong transcription	Left Ventricle	heart
44	chr12:123886400-123894200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr12:123886400-123894400	Strong transcription	Osteobl	bone
46	chr12:123886400-123894800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:123886400-123895000	Strong transcription	Adipose Nuclei	Adipose
48	chr12:123886400-123895000	Strong transcription	Liver	Liver
49	chr12:123886400-123895200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:123886400-123895200	Strong transcription	Spleen	Spleen

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