Variant report

Variant	esv3375706
Chromosome Location	chr6:37635848-37636172
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	CEBPB	chr6:37636093-37636424	A549	lung:	n/a	n/a
2	CEBPB	chr6:37635983-37636390	A549	lung:	n/a	n/a
3	CEBPD	chr6:37635063-37635859	K562	blood:	n/a	n/a
4	FOS	chr6:37636072-37636454	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:37636056-37636462	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:37636033-37636448	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:37636123-37636390	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL2	chr6:37636131-37636394	A549	lung:	n/a	n/a
9	FOSL2	chr6:37636031-37636546	A549	lung:	n/a	n/a
10	FOXA1	chr6:37636050-37636398	T-47D	breast:	n/a	n/a
11	FOXA1	chr6:37636038-37636418	A549	lung:	n/a	n/a
12	FOXA1	chr6:37636048-37636299	T-47D	breast:	n/a	n/a
13	FOXA2	chr6:37636047-37636450	A549	lung:	n/a	n/a
14	GATA1	chr6:37634126-37636644	K562	blood:	n/a	chr6:37635557-37635569 chr6:37635417-37635426 chr6:37635553-37635574 chr6:37635408-37635425 chr6:37635512-37635520 chr6:37635558-37635567 chr6:37635419-37635429 chr6:37635560-37635570 chr6:37635414-37635430 chr6:37634550-37634561 chr6:37635558-37635568 chr6:37634237-37634247 chr6:37635560-37635567
15	GATA3	chr6:37634996-37635880	SK-N-SH	brain:	n/a	chr6:37635557-37635569 chr6:37635417-37635426 chr6:37635553-37635574 chr6:37635408-37635425 chr6:37635512-37635520 chr6:37635558-37635567 chr6:37635419-37635429 chr6:37635560-37635570 chr6:37635414-37635430 chr6:37635558-37635568 chr6:37635560-37635567
16	GATA3	chr6:37634798-37635887	SK-N-SH	brain:	n/a	chr6:37635557-37635569 chr6:37635417-37635426 chr6:37635553-37635574 chr6:37635408-37635425 chr6:37635512-37635520 chr6:37635558-37635567 chr6:37635419-37635429 chr6:37635560-37635570 chr6:37635414-37635430 chr6:37635558-37635568 chr6:37635560-37635567
17	GATA3	chr6:37636016-37636584	A549	lung:	n/a	n/a
18	JUN	chr6:37635118-37635890	K562	blood:	n/a	n/a
19	JUN	chr6:37636149-37636442	HepG2	liver:	n/a	n/a
20	JUN	chr6:37634996-37635970	K562	blood:	n/a	n/a
21	MYC	chr6:37636108-37636260	MCF10A-Er-Src	breast:	n/a	n/a
22	SP1	chr6:37635940-37636476	A549	lung:	n/a	n/a
23	SP1	chr6:37636131-37636444	A549	lung:	n/a	n/a
24	STAT3	chr6:37636138-37636366	MCF10A-Er-Src	breast:	n/a	n/a
25	TEAD4	chr6:37634916-37635879	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37606863..37610882-chr6:37635418..37638237,3	MCF-7	breast:

Variant related genes	Relation type
MDGA1	TF binding region
ENSG00000112139	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144393462	chr6:37635863-37635864	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs72847482	chr6:37635881-37635882	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148710253	chr6:37635912-37635913	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182758091	chr6:37635939-37635940	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs115426005	chr6:37635973-37635974	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs9462345	chr6:37635987-37635988	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs71542132	chr6:37636025-37636026	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547125106	chr6:37636026-37636027	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375511844	chr6:37636030-37636031	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376783756	chr6:37636037-37636038	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs72847485	chr6:37636040-37636041	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201150214	chr6:37636041-37636042	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs70977680	chr6:37636042-37636043	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37629400-37646000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:37629600-37641000	Weak transcription	Fetal Brain Female	brain
3	chr6:37629600-37659600	Weak transcription	Ovary	ovary
4	chr6:37631800-37647600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:37633200-37637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:37633400-37639000	Weak transcription	Brain Anterior Caudate	brain
7	chr6:37633600-37637400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:37633600-37637400	Weak transcription	Brain Substantia Nigra	brain
9	chr6:37633600-37637400	Weak transcription	Gastric	stomach
10	chr6:37633600-37638000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:37633600-37639600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:37633600-37641400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:37633600-37647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:37633800-37637000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:37633800-37638200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:37634800-37636000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:37634800-37636000	Enhancers	Fetal Brain Male	brain
18	chr6:37634800-37636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:37635000-37636600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:37635400-37636600	Enhancers	NHEK	skin
21	chr6:37635600-37637200	Weak transcription	NHLF	lung
22	chr6:37635800-37636000	Enhancers	A549	lung
23	chr6:37635800-37637400	Weak transcription	NH-A	brain
24	chr6:37636000-37636600	Flanking Active TSS	A549	lung
25	chr6:37636000-37637200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:37636000-37641000	Weak transcription	Fetal Brain Male	brain

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