Variant report

Variant	esv3430400
Chromosome Location	chr6:53668793-53672091
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:53672081..53674984-chr6:53705343..53707160,2	MCF-7	breast:
2	chr6:53668450..53670040-chr6:53712921..53715850,2	MCF-7	breast:
3	chr6:53663341..53666059-chr6:53671400..53673766,2	MCF-7	breast:
4	chr6:53668250..53669975-chr6:53693891..53696274,2	MCF-7	breast:
5	chr6:53657464..53661441-chr6:53668474..53671433,5	MCF-7	breast:
6	chr6:53658074..53661500-chr6:53665501..53670163,6	MCF-7	breast:
7	chr6:53671854..53673444-chr6:53682878..53685695,2	MCF-7	breast:
8	chr6:53668227..53671026-chr6:53671811..53674151,2	MCF-7	breast:
9	chr6:53669263..53671782-chr6:53791090..53793404,2	MCF-7	breast:
10	chr6:53668227..53671026-chr6:53671811..53674151,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228614	chromatin interactions
ENSG00000137269	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79414915	chr6:53668799-53668800	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs145736909	chr6:53668806-53668807	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559154195	chr6:53668815-53668816	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576012116	chr6:53668983-53668984	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544919220	chr6:53669016-53669017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560905530	chr6:53669017-53669018	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs533855543	chr6:53669040-53669041	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs150061495	chr6:53669089-53669090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142402436	chr6:53669095-53669096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369460929	chr6:53669096-53669097	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368430348	chr6:53669107-53669108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7769893	chr6:53669114-53669115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187334175	chr6:53669131-53669132	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192282715	chr6:53669160-53669161	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184524942	chr6:53669217-53669218	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138675007	chr6:53669258-53669259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs562293658	chr6:53669266-53669267	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531544764	chr6:53669297-53669298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs77488414	chr6:53669393-53669394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs116264637	chr6:53669405-53669406	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530132304	chr6:53669427-53669428	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7770003	chr6:53669488-53669489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117328033	chr6:53669504-53669505	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539089197	chr6:53669546-53669547	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559243325	chr6:53669587-53669588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569462188	chr6:53669608-53669609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538571371	chr6:53669632-53669633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs78241675	chr6:53669653-53669654	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575002027	chr6:53669669-53669670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540238461	chr6:53669678-53669679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553449029	chr6:53669691-53669692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536818065	chr6:53669713-53669714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545490174	chr6:53669757-53669758	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189359285	chr6:53669796-53669797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs180725004	chr6:53669819-53669820	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539177324	chr6:53669820-53669821	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77655444	chr6:53669831-53669832	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531381769	chr6:53669853-53669854	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs142875757	chr6:53669878-53669879	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs562031918	chr6:53669881-53669882	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535691974	chr6:53669897-53669898	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs80164124	chr6:53669912-53669913	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs147443521	chr6:53669933-53669934	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139142190	chr6:53669945-53669946	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532695197	chr6:53669965-53669966	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs184425517	chr6:53669968-53669969	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs3000998	chr6:53669994-53669995	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs76395942	chr6:53670051-53670052	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554827041	chr6:53670068-53670069	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs74514484	chr6:53670108-53670109	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53661400-53669800	Weak transcription	Gastric	stomach
2	chr6:53661400-53670400	Weak transcription	Primary T cells from cord blood	blood
3	chr6:53661400-53675600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:53661400-53688200	Weak transcription	Right Ventricle	heart
5	chr6:53662000-53670200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:53662600-53669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:53662600-53670000	Weak transcription	Esophagus	oesophagus
8	chr6:53662600-53670400	Weak transcription	Thymus	Thymus
9	chr6:53662600-53677600	Weak transcription	Small Intestine	intestine
10	chr6:53662800-53669800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:53662800-53669800	Weak transcription	HMEC	breast
12	chr6:53662800-53670200	Weak transcription	Fetal Intestine Large	intestine
13	chr6:53662800-53670200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:53662800-53675400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:53663000-53669800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:53663200-53670600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:53664000-53669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:53664800-53669800	Weak transcription	Fetal Thymus	thymus
19	chr6:53664800-53673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:53665000-53669800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:53665000-53674800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:53665000-53675600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:53665800-53668800	Enhancers	Dnd41	blood
24	chr6:53666000-53670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:53666200-53669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:53666800-53669000	Enhancers	NHLF	lung
27	chr6:53667000-53669800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:53667000-53670000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:53667000-53670200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:53667200-53669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:53667400-53668800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr6:53667400-53669600	Weak transcription	Aorta	Aorta
33	chr6:53667600-53678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:53667800-53668800	Enhancers	Lung	lung
35	chr6:53667800-53668800	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:53667800-53669000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:53667800-53670000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:53667800-53673600	Enhancers	Brain Substantia Nigra	brain
39	chr6:53668000-53668800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:53668000-53668800	Enhancers	Pancreas	Pancrea
41	chr6:53668000-53668800	Enhancers	HUVEC	blood vessel
42	chr6:53668000-53669000	Enhancers	NH-A	brain
43	chr6:53668000-53670200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:53668000-53670800	Enhancers	NHEK	skin
45	chr6:53668000-53671400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:53668200-53668800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:53668200-53668800	Enhancers	Stomach Smooth Muscle	stomach
48	chr6:53668200-53669000	Enhancers	Brain Anterior Caudate	brain
49	chr6:53668200-53669000	Enhancers	Osteobl	bone
50	chr6:53668200-53669200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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