Variant report

Variant	nsv469118
Chromosome Location	chr12:12532984-12541869
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	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
2	chr12:12531370..12534398-chr12:12711544..12717276,8	MCF-7	breast:
3	chr12:12539967..12541683-chr12:12547549..12549266,2	MCF-7	breast:
4	chr12:12531757..12533450-chr12:12857670..12859223,2	MCF-7	breast:
5	chr12:12534486..12536460-chr12:12761134..12763160,2	MCF-7	breast:
6	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
7	chr12:12538899..12542001-chr12:12714080..12716309,3	MCF-7	breast:
8	chr12:12532395..12535127-chr12:12868296..12871166,2	MCF-7	breast:
9	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111276	chromatin interactions
ENSG00000111266	chromatin interactions

Extended variants
information (count: 351 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6488519	chr12:12532984-12532985	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374709521	chr12:12532985-12532986	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148440844	chr12:12533003-12533004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76293501	chr12:12533024-12533025	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533362831	chr12:12533063-12533064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556702090	chr12:12533122-12533123	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551832915	chr12:12533222-12533223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11395771	chr12:12533223-12533224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547697750	chr12:12533232-12533233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142563302	chr12:12533325-12533326	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs34451862	chr12:12533344-12533345	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs73279374	chr12:12533428-12533429	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11054864	chr12:12533494-12533495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151081421	chr12:12533505-12533506	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557848664	chr12:12533524-12533525	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs142561903	chr12:12533542-12533543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537557257	chr12:12533587-12533588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556165854	chr12:12533616-12533617	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184046342	chr12:12533627-12533628	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535707600	chr12:12533681-12533682	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113208741	chr12:12533746-12533747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554148316	chr12:12533793-12533794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571738146	chr12:12533795-12533796	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572125941	chr12:12533829-12533830	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185186603	chr12:12533840-12533841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189947153	chr12:12533851-12533852	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576454654	chr12:12533857-12533858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543515477	chr12:12533875-12533876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs561708448	chr12:12533899-12533900	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529291386	chr12:12533908-12533909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs73279377	chr12:12533917-12533918	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113241973	chr12:12533940-12533941	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs530930947	chr12:12533946-12533947	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533344548	chr12:12533984-12533985	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147966521	chr12:12533993-12533994	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs111530309	chr12:12534006-12534007	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs537899041	chr12:12534007-12534008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs147048681	chr12:12534009-12534010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs138149193	chr12:12534039-12534040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149154074	chr12:12534087-12534088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554093256	chr12:12534096-12534097	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572271215	chr12:12534130-12534131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539374444	chr12:12534161-12534162	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373824856	chr12:12534196-12534197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs35606580	chr12:12534211-12534212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs367776778	chr12:12534214-12534215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs557889001	chr12:12534229-12534230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576169145	chr12:12534237-12534238	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs35401758	chr12:12534262-12534263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143297727	chr12:12534263-12534264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	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
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	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	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	21088497	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
2	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
3	chr12:12511400-12540600	Weak transcription	HSMM	muscle
4	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:12512200-12540400	Weak transcription	HMEC	breast
8	chr12:12512400-12540600	Weak transcription	Psoas Muscle	Psoas
9	chr12:12516200-12537600	Weak transcription	Dnd41	blood
10	chr12:12516400-12535200	Weak transcription	Lung	lung
11	chr12:12516400-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:12519200-12549800	Weak transcription	Aorta	Aorta
13	chr12:12519400-12537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:12519600-12540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:12519800-12537600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:12520200-12535000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:12521000-12538000	Weak transcription	Left Ventricle	heart
18	chr12:12521800-12542800	Weak transcription	Adipose Nuclei	Adipose
19	chr12:12521800-12556200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:12525400-12550200	Weak transcription	Fetal Stomach	stomach
21	chr12:12526000-12541600	Weak transcription	Brain Germinal Matrix	brain
22	chr12:12526400-12535400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:12526400-12537800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:12526400-12540400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:12526400-12540400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:12526400-12558800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:12526600-12537600	Weak transcription	K562	blood
28	chr12:12526800-12535000	Weak transcription	Primary B cells from cord blood	blood
29	chr12:12526800-12537600	Weak transcription	Small Intestine	intestine
30	chr12:12526800-12538000	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:12529400-12537600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:12529600-12541400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:12529800-12534200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:12529800-12534600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr12:12529800-12535200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:12530000-12533400	Enhancers	Fetal Thymus	thymus
37	chr12:12530000-12535000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:12530800-12534800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:12530800-12536200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:12530800-12537600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:12531200-12533200	Enhancers	Thymus	Thymus
42	chr12:12531400-12533600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:12531400-12534800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:12531600-12534200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:12531600-12539000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:12531800-12534600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:12531800-12534600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr12:12532000-12533800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr12:12532000-12534600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:12532200-12533000	Enhancers	Placenta	Placenta

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