Variant report

Variant	esv3378565
Chromosome Location	chr6:161439658-161440076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:161439336-161439823	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161423960..161426203-chr6:161439783..161441773,2	K562	blood:
2	chr6:161437396..161442216-chr6:161443214..161447572,9	K562	blood:
3	chr6:161422584..161426203-chr6:161439783..161443132,3	K562	blood:
4	chr6:161439053..161441758-chr6:161448049..161449649,2	K562	blood:
5	chr6:161436912..161442437-chr6:161442557..161447430,8	K562	blood:
6	chr6:161426568..161429314-chr6:161439538..161442879,3	K562	blood:

No data

Variant related genes	Relation type
MAP3K4	TF binding region
ENSG00000085511	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552635027	chr6:161439663-161439664	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs9355327	chr6:161439671-161439672	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187129018	chr6:161439683-161439684	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35786529	chr6:161439731-161439732	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551057150	chr6:161439740-161439741	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144963576	chr6:161439766-161439767	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537122205	chr6:161439785-161439786	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557628100	chr6:161439867-161439868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574280794	chr6:161439885-161439886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536795178	chr6:161439923-161439924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553637346	chr6:161439924-161439925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374689230	chr6:161439928-161439929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368034946	chr6:161439954-161439955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573422461	chr6:161440000-161440001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548394793	chr6:161440001-161440002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142536941	chr6:161440064-161440065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Renal cell carcinoma	18592004	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
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161414200-161458200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:161414600-161442600	Weak transcription	Primary B cells from cord blood	blood
4	chr6:161414600-161457400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:161415600-161450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:161417400-161449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:161418000-161448800	Weak transcription	Lung	lung
9	chr6:161422800-161441000	Weak transcription	K562	blood
10	chr6:161423000-161443000	Weak transcription	HepG2	liver
11	chr6:161428600-161455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:161431000-161442400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:161432200-161442400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:161432200-161450000	Weak transcription	HMEC	breast
15	chr6:161432200-161450400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:161432200-161451200	Weak transcription	NHEK	skin
17	chr6:161432600-161455400	Weak transcription	Fetal Intestine Large	intestine
18	chr6:161433000-161440400	Weak transcription	Small Intestine	intestine
19	chr6:161433000-161442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:161433000-161449000	Weak transcription	HSMM	muscle
21	chr6:161433000-161458000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:161433200-161440400	Weak transcription	Colonic Mucosa	Colon
23	chr6:161433200-161442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:161433200-161448800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:161433200-161450000	Weak transcription	Aorta	Aorta
26	chr6:161433200-161459200	Weak transcription	Fetal Stomach	stomach
27	chr6:161433400-161440400	Weak transcription	Psoas Muscle	Psoas
28	chr6:161433400-161443000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:161433400-161443200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:161433400-161446200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:161433400-161450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:161433400-161455600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:161433400-161455800	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:161433400-161455800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:161433400-161459000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:161433600-161458200	Weak transcription	Fetal Brain Female	brain
37	chr6:161433600-161459600	Weak transcription	Brain Germinal Matrix	brain
38	chr6:161433800-161444400	Weak transcription	NHDF-Ad	bronchial
39	chr6:161433800-161448400	Weak transcription	NH-A	brain
40	chr6:161433800-161451000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:161434000-161449800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:161434000-161455600	Weak transcription	Adipose Nuclei	Adipose
43	chr6:161434000-161459000	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:161434200-161443800	Weak transcription	Osteobl	bone
45	chr6:161434200-161450000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:161434800-161440400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:161434800-161458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:161435000-161441000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:161435000-161442200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:161435000-161448800	Weak transcription	Gastric	stomach

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