Variant report

Variant	esv3340848
Chromosome Location	chr6:37775510-37775744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37775388..37777392-chr6:37792232..37794017,2	MCF-7	breast:
2	chr6:37770736..37773178-chr6:37775480..37777289,2	K562	blood:
3	chr6:37774211..37776209-chr6:37780376..37782205,2	MCF-7	breast:
4	chr6:37756505..37762867-chr6:37772774..37778127,6	MCF-7	breast:
5	chr6:37770736..37773178-chr6:37775480..37777364,3	K562	blood:
6	chr6:37773868..37777488-chr6:37778348..37782159,4	K562	blood:
7	chr6:37771553..37779758-chr6:37784024..37789413,23	MCF-7	breast:
8	chr6:37772786..37776209-chr6:37782926..37786197,4	K562	blood:
9	chr6:37773348..37778942-chr6:37784434..37789284,15	MCF-7	breast:
10	chr6:37774048..37775652-chr6:37787491..37789731,2	K562	blood:
11	chr6:37774109..37776209-chr6:37784418..37787142,2	K562	blood:
12	chr6:37761178..37763195-chr6:37774802..37776873,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156639	chromatin interactions
ENSG00000225945	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 90 )

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	rs76093758	chr6:37775543-37775544	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs139234860	chr6:37775559-37775560	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550969877	chr6:37775560-37775561	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192785962	chr6:37775564-37775565	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534073116	chr6:37775570-37775571	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142943886	chr6:37775577-37775578	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116444266	chr6:37775606-37775607	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536079904	chr6:37775625-37775626	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561151317	chr6:37775644-37775645	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs58692659	chr6:37775652-37775653	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563610742	chr6:37775699-37775700	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539178463	chr6:37775712-37775713	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558990680	chr6:37775715-37775716	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572498455	chr6:37775717-37775718	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs74914986	chr6:37775726-37775727	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561435762	chr6:37775733-37775734	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37767400-37777000	Weak transcription	Right Atrium	heart
2	chr6:37769600-37776800	Weak transcription	Liver	Liver
3	chr6:37772600-37776800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:37773000-37776800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:37774600-37775600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:37774600-37777400	Enhancers	Fetal Brain Male	brain
7	chr6:37774800-37776400	Enhancers	Fetal Brain Female	brain
8	chr6:37775000-37775800	Enhancers	Brain Germinal Matrix	brain
9	chr6:37775200-37775600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:37775200-37775600	Enhancers	NHEK	skin
11	chr6:37775200-37775800	Enhancers	Esophagus	oesophagus
12	chr6:37775200-37776200	Enhancers	Brain Angular Gyrus	brain
13	chr6:37775200-37776200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr6:37775200-37777400	Enhancers	Fetal Kidney	kidney
15	chr6:37775200-37777400	Enhancers	Fetal Muscle Leg	muscle
16	chr6:37775200-37777400	Enhancers	HSMMtube	muscle
17	chr6:37775200-37777600	Enhancers	HMEC	breast
18	chr6:37775400-37775600	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:37775400-37775800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:37775400-37775800	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:37775400-37775800	Enhancers	Psoas Muscle	Psoas
22	chr6:37775400-37776000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:37775400-37776000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr6:37775400-37776000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:37775400-37776000	Enhancers	Brain Anterior Caudate	brain
26	chr6:37775400-37776000	Enhancers	Ovary	ovary
27	chr6:37775400-37776200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:37775400-37776200	Enhancers	Brain Hippocampus Middle	brain
29	chr6:37775400-37776400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:37775400-37776400	Enhancers	HSMM	muscle
31	chr6:37775400-37776600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:37775400-37777200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:37775400-37777400	Enhancers	Placenta	Placenta
34	chr6:37775400-37777400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:37775400-37777400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:37775400-37777600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:37775400-37777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:37775600-37775800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:37775600-37775800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:37775600-37775800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:37775600-37775800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr6:37775600-37776000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:37775600-37776400	Flanking Active TSS	NHEK	skin

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