Variant report

Variant	esv3365739
Chromosome Location	chr12:1084002-1084381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1083497..1086288-chr12:1097620..1099301,2	K562	blood:
2	chr12:1084158..1085789-chr12:1100378..1102733,2	K562	blood:
3	chr12:1079013..1081455-chr12:1084303..1086694,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NINJ2-2	chr12:1083299-1086272	ENSG00000250132.2

Variant related genes	Relation type
ENSG00000002016	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000250132	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571611187	chr12:1084043-1084044	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs74371079	chr12:1084044-1084045	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs553730423	chr12:1084052-1084053	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs148450730	chr12:1084054-1084055	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs564310732	chr12:1084090-1084091	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs542978152	chr12:1084092-1084093	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs540870346	chr12:1084095-1084096	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs576127865	chr12:1084124-1084125	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs532469196	chr12:1084160-1084161	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs543395628	chr12:1084167-1084168	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs142597784	chr12:1084202-1084203	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs150963322	chr12:1084218-1084219	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs138957131	chr12:1084242-1084243	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs368416691	chr12:1084246-1084247	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs139490359	chr12:1084270-1084271	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs568544580	chr12:1084271-1084272	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs560549017	chr12:1084305-1084306	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs149668818	chr12:1084306-1084307	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs186005315	chr12:1084331-1084332	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs567574923	chr12:1084333-1084334	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs531608153	chr12:1084338-1084339	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs73606337	chr12:1084349-1084350	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74238837	chr12:1084371-1084372	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs386375366	chr12:1084372-1084373	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs375826097	chr12:1084376-1084377	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs3077817	chr12:1084377-1084378	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1063200-1090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1068000-1097600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:1068000-1098600	Weak transcription	Aorta	Aorta
4	chr12:1068200-1086200	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:1071000-1088600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:1072800-1097800	Weak transcription	Pancreas	Pancrea
7	chr12:1073200-1099600	Weak transcription	Gastric	stomach
8	chr12:1074200-1097200	Weak transcription	Fetal Stomach	stomach
9	chr12:1076200-1097600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:1076400-1097600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:1076400-1097600	Weak transcription	Fetal Intestine Small	intestine
12	chr12:1077600-1097600	Weak transcription	Fetal Brain Male	brain
13	chr12:1077800-1097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:1078000-1086000	Weak transcription	Brain Anterior Caudate	brain
15	chr12:1078000-1097200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:1078000-1097600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:1078000-1097600	Weak transcription	Fetal Brain Female	brain
18	chr12:1078000-1099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:1078400-1097600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:1079200-1097600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:1080000-1085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:1080200-1086400	Weak transcription	Fetal Heart	heart
23	chr12:1081400-1097400	Weak transcription	Fetal Lung	lung
24	chr12:1081600-1086000	Weak transcription	K562	blood
25	chr12:1081600-1097600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:1081600-1097600	Weak transcription	Ovary	ovary
27	chr12:1081600-1099600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:1081800-1095400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:1082200-1091000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:1082600-1099000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:1083800-1085800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:1083800-1097600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:1084000-1086200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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