Variant report

Variant	esv3334094
Chromosome Location	chr6:161574777-161574996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:161574573-161574928	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:161574795-161574902	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:161574862-161575131	H1-neurons	neurons:	n/a	n/a
4	SMC3	chr6:161573861-161574843	SK-N-SH	brain:	n/a	chr6:161574124-161574138
5	USF1	chr6:161574898-161575268	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161564867..161570084-chr6:161571350..161575451,5	K562	blood:
2	chr6:161573780..161576255-chr6:161588186..161590338,2	K562	blood:
3	chr6:161570952..161573247-chr6:161574439..161576942,2	K562	blood:
4	chr6:161574028..161575026-chr6:161794391..161795585,3	MCF-7	breast:
5	chr6:161574755..161576557-chr6:161587307..161589686,2	K562	blood:
6	chr6:161566821..161570627-chr6:161571928..161576334,7	K562	blood:
7	chr6:161552790..161554841-chr6:161572944..161575587,2	K562	blood:
8	chr6:161574079..161576622-chr6:161584253..161586055,2	K562	blood:

No data

Variant related genes	Relation type
AGPAT4	TF binding region
ENSG00000026652	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184053884	chr6:161574782-161574783	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs28652581	chr6:161574794-161574795	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558732102	chr6:161574803-161574804	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2018762	chr6:161574808-161574809	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576522735	chr6:161574830-161574831	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537969215	chr6:161574831-161574832	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs555080717	chr6:161574836-161574837	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574721928	chr6:161574837-161574838	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540678022	chr6:161574838-161574839	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533739511	chr6:161574848-161574849	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573183322	chr6:161574854-161574855	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs28548176	chr6:161574866-161574867	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564953941	chr6:161574868-161574869	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28564998	chr6:161574872-161574873	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543953887	chr6:161574873-161574874	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573723174	chr6:161574882-161574883	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs542345562	chr6:161574884-161574885	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546199406	chr6:161574885-161574886	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562535185	chr6:161574889-161574890	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs575970579	chr6:161574911-161574912	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs367745293	chr6:161574939-161574940	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs940520	chr6:161574964-161574965	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs564780954	chr6:161574969-161574970	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552321051	chr6:161574990-161574991	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney
3	chr6:161544600-161589600	Weak transcription	Fetal Brain Male	brain
4	chr6:161545000-161584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
6	chr6:161549200-161577000	Strong transcription	Fetal Brain Female	brain
7	chr6:161549200-161577400	Strong transcription	Fetal Stomach	stomach
8	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:161550200-161577400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
13	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
14	chr6:161555800-161586600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:161557600-161581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:161557800-161584200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:161558200-161577800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:161558200-161582600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:161558200-161589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:161558400-161581400	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:161559400-161587600	Weak transcription	Fetal Intestine Large	intestine
22	chr6:161560000-161583200	Weak transcription	HMEC	breast
23	chr6:161560200-161574800	Weak transcription	Right Ventricle	heart
24	chr6:161560200-161583800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:161560400-161581400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:161560400-161584600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:161560600-161584400	Weak transcription	NHLF	lung
28	chr6:161560800-161582400	Weak transcription	HSMMtube	muscle
29	chr6:161563400-161588200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:161564800-161577000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:161566000-161577600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:161566200-161577400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr6:161566600-161577400	Strong transcription	Brain Germinal Matrix	brain
34	chr6:161567000-161577600	Strong transcription	Fetal Muscle Leg	muscle
35	chr6:161567600-161578000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:161567600-161585400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:161568000-161581200	Weak transcription	Osteobl	bone
38	chr6:161568000-161581400	Weak transcription	NH-A	brain
39	chr6:161569200-161584600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:161569600-161581400	Weak transcription	NHDF-Ad	bronchial
41	chr6:161569800-161583000	Weak transcription	HSMM	muscle
42	chr6:161570200-161575600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:161570200-161579000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:161570200-161583200	Weak transcription	Left Ventricle	heart
45	chr6:161571000-161577200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:161571000-161578600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:161571200-161576200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr6:161571200-161580800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:161571200-161587600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:161571600-161577400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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