Variant report

Variant	esv2233598
Chromosome Location	chr6:35469148-35469557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:35468465-35469292	K562	blood:	n/a	n/a
2	POLR2A	chr6:35469082-35469195	K562	blood:	n/a	n/a
3	POLR2A	chr6:35468515-35469156	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
TEAD3	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57382666	chr6:35469153-35469154	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs562901779	chr6:35469162-35469163	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369799680	chr6:35469169-35469170	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373138033	chr6:35469230-35469231	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs375103542	chr6:35469265-35469266	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545556314	chr6:35469268-35469269	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs57163177	chr6:35469282-35469283	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs77110149	chr6:35469286-35469287	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs67875217	chr6:35469287-35469288	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs57326453	chr6:35469306-35469307	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs4713875	chr6:35469322-35469323	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144283545	chr6:35469399-35469400	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs182263151	chr6:35469415-35469416	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs567413287	chr6:35469416-35469417	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs531639145	chr6:35469417-35469418	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs184979584	chr6:35469480-35469481	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs560214192	chr6:35469481-35469482	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs563577018	chr6:35469504-35469505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs190703699	chr6:35469539-35469540	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35465600-35469200	Enhancers	Fetal Heart	heart
2	chr6:35466400-35469200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:35466400-35469200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:35466400-35476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:35466400-35479200	Weak transcription	Right Ventricle	heart
6	chr6:35466800-35477000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:35466800-35479400	Weak transcription	Right Atrium	heart
8	chr6:35467000-35473400	Weak transcription	Esophagus	oesophagus
9	chr6:35467200-35469400	Enhancers	Placenta	Placenta
10	chr6:35467400-35478600	Weak transcription	Fetal Lung	lung
11	chr6:35467600-35469200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:35467600-35469200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:35467600-35469200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:35467600-35471600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:35467800-35469200	Enhancers	Left Ventricle	heart
16	chr6:35467800-35469200	Enhancers	Psoas Muscle	Psoas
17	chr6:35468000-35469200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:35468000-35469200	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:35468000-35469200	Enhancers	HSMMtube	muscle
20	chr6:35468000-35469200	Enhancers	NHDF-Ad	bronchial
21	chr6:35468200-35469200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:35468200-35469200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:35468200-35469200	Enhancers	Hela-S3	cervix
24	chr6:35468400-35469200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:35468400-35469200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:35468400-35469800	Bivalent Enhancer	HepG2	liver
27	chr6:35468600-35469200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:35468600-35469200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:35468600-35469200	Strong transcription	Fetal Stomach	stomach
30	chr6:35468600-35471200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:35468600-35471200	Enhancers	Fetal Muscle Leg	muscle
32	chr6:35468800-35473000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:35469000-35469200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr6:35469000-35469200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:35469000-35469200	Flanking Active TSS	Osteobl	bone
36	chr6:35469000-35473200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:35469000-35473600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:35469200-35469400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:35469200-35469600	Weak transcription	Fetal Stomach	stomach
40	chr6:35469200-35469800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:35469200-35471200	Weak transcription	Psoas Muscle	Psoas
42	chr6:35469200-35471200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:35469200-35471200	Weak transcription	HSMMtube	muscle
44	chr6:35469200-35471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:35469200-35473400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:35469200-35473600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:35469200-35473600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:35469200-35473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:35469200-35473800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:35469200-35474200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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