Variant report

Variant	esv2394547
Chromosome Location	chr6:167359848-167359849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:167359792-167359909	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:167359383-167359897	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:167359371-167360113	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167355022..167357881-chr6:167358676..167361500,2	K562	blood:
2	chr6:167356381..167359345-chr6:167359373..167361500,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS6KA2-2	chr6:167357853-167360151	NONHSAT116065

No data

Variant related genes	Relation type
RNASET2	TF binding region
ENSG00000026297	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 88 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3215702	chr6:167359848-167359849	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167337600-167363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:167340000-167363000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:167340000-167363000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:167340200-167362800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:167340400-167363000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:167340600-167363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:167341000-167368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:167341200-167368800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:167341400-167361400	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr6:167342400-167368600	Weak transcription	Fetal Heart	heart
11	chr6:167344200-167364000	Weak transcription	Brain Angular Gyrus	brain
12	chr6:167344200-167368600	Weak transcription	Right Atrium	heart
13	chr6:167344400-167362000	Strong transcription	GM12878-XiMat	blood
14	chr6:167344400-167363600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:167344400-167364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:167345600-167361400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr6:167346400-167362200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:167348400-167364800	Weak transcription	Brain Substantia Nigra	brain
19	chr6:167350000-167363600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:167350600-167361000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr6:167350600-167363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:167350600-167366400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:167350600-167367600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:167351000-167362000	Strong transcription	Primary B cells from cord blood	blood
25	chr6:167351600-167360600	Weak transcription	Stomach Mucosa	stomach
26	chr6:167352200-167360400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:167352200-167363200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:167352200-167368800	Weak transcription	Fetal Kidney	kidney
29	chr6:167352400-167360400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:167352400-167360600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:167352400-167363200	Weak transcription	Small Intestine	intestine
32	chr6:167352400-167364800	Weak transcription	Right Ventricle	heart
33	chr6:167353600-167360400	Weak transcription	Fetal Brain Female	brain
34	chr6:167353600-167364000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:167353800-167366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:167354200-167363200	Weak transcription	Brain Germinal Matrix	brain
37	chr6:167354400-167362200	Strong transcription	HepG2	liver
38	chr6:167354400-167364800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:167354600-167362200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:167354600-167363200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:167354600-167364800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:167354600-167368800	Weak transcription	HSMM	muscle
43	chr6:167354600-167369000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:167354600-167369000	Weak transcription	A549	lung
45	chr6:167354800-167363400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:167356000-167362000	Strong transcription	Fetal Stomach	stomach
47	chr6:167356400-167361200	Strong transcription	Lung	lung
48	chr6:167356400-167366800	Strong transcription	Fetal Intestine Small	intestine
49	chr6:167356600-167361200	Strong transcription	Colonic Mucosa	Colon
50	chr6:167356800-167360000	Strong transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links