Variant report

Variant	esv2654510
Chromosome Location	chr6:54583570-54585063
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:54583465..54585924-chr6:54724133..54726618,2	MCF-7	breast:
2	chr6:54568299..54570747-chr6:54582453..54584898,3	MCF-7	breast:
3	chr6:54582713..54585752-chr6:54741876..54745709,4	MCF-7	breast:
4	chr6:54577593..54590845-chr6:54708062..54715554,67	MCF-7	breast:
5	chr6:54582003..54585202-chr6:54737626..54739872,3	MCF-7	breast:
6	chr6:54582596..54584566-chr6:55092481..55094780,2	MCF-7	breast:
7	chr6:54561293..54570100-chr6:54582505..54590247,14	MCF-7	breast:
8	chr6:54578251..54580318-chr6:54581650..54584206,2	MCF-7	breast:
9	chr6:54582865..54585119-chr6:54718425..54721186,2	MCF-7	breast:
10	chr6:54583583..54586469-chr6:54727325..54729845,2	MCF-7	breast:
11	chr6:54580831..54596896-chr6:54704751..54716103,89	MCF-7	breast:
12	chr6:54584974..54587110-chr6:54788503..54790985,2	MCF-7	breast:
13	chr6:54570566..54573467-chr6:54582462..54585489,3	MCF-7	breast:
14	chr6:54581649..54583716-chr6:54731091..54732634,2	MCF-7	breast:
15	chr6:54574954..54578587-chr6:54580352..54583856,5	MCF-7	breast:
16	chr6:54581587..54585941-chr6:54586924..54591451,7	MCF-7	breast:
17	chr6:54581970..54584648-chr6:54584800..54586441,2	MCF-7	breast:
18	chr6:54574192..54576279-chr6:54583056..54585185,2	MCF-7	breast:
19	chr6:54581970..54584648-chr6:54584800..54586441,2	MCF-7	breast:
20	chr6:54559803..54567776-chr6:54579525..54585377,11	MCF-7	breast:
21	chr6:54582065..54584949-chr6:54722187..54724387,3	MCF-7	breast:
22	chr6:54582146..54584053-chr6:54741073..54743084,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168143	chromatin interactions
ENSG00000224984	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs962308	chr6:54583590-54583591	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554035365	chr6:54583598-54583599	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572088766	chr6:54583690-54583691	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540503158	chr6:54583703-54583704	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573827991	chr6:54583704-54583705	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541131336	chr6:54583748-54583749	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73444125	chr6:54583771-54583772	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144131437	chr6:54583775-54583776	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368260768	chr6:54583776-54583777	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147316643	chr6:54583815-54583816	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs184191504	chr6:54583872-54583873	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188964643	chr6:54583885-54583886	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs182036472	chr6:54583911-54583912	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565875570	chr6:54583921-54583922	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139069789	chr6:54583950-54583951	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528224744	chr6:54583963-54583964	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs562180695	chr6:54583999-54584000	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs547888723	chr6:54584009-54584010	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570825391	chr6:54584013-54584014	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539879107	chr6:54584022-54584023	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12527080	chr6:54584050-54584051	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79904238	chr6:54584056-54584057	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536147825	chr6:54584103-54584104	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556055427	chr6:54584138-54584139	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs36210057	chr6:54584145-54584146	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs367856547	chr6:54584162-54584163	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371084997	chr6:54584174-54584175	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371739042	chr6:54584175-54584176	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572604465	chr6:54584209-54584210	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564820180	chr6:54584210-54584211	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540145502	chr6:54584250-54584251	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534870807	chr6:54584259-54584260	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533333857	chr6:54584267-54584268	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs6459019	chr6:54584288-54584289	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114592027	chr6:54584302-54584303	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs185491229	chr6:54584326-54584327	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12527124	chr6:54584345-54584346	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6899853	chr6:54584386-54584387	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547639209	chr6:54584403-54584404	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559356253	chr6:54584422-54584423	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs549676320	chr6:54584484-54584485	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs62414318	chr6:54584500-54584501	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374800487	chr6:54584507-54584508	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564633998	chr6:54584569-54584570	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7759470	chr6:54584594-54584595	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550240656	chr6:54584602-54584603	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570076191	chr6:54584611-54584612	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7739425	chr6:54584624-54584625	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549673073	chr6:54584648-54584649	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566225496	chr6:54584684-54584685	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Hodgkin''s lymphoma	17606441	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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54582400-54583800	Enhancers	NHEK	skin
2	chr6:54582400-54585000	Enhancers	Fetal Lung	lung
3	chr6:54582600-54583800	Enhancers	Stomach Mucosa	stomach
4	chr6:54582800-54584200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:54583000-54583600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:54583000-54583800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr6:54583000-54584000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:54583000-54584000	Enhancers	Fetal Intestine Large	intestine
9	chr6:54583000-54584000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:54583000-54584200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:54583000-54584200	Active TSS	Duodenum Mucosa	Duodenum
12	chr6:54583000-54584600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:54583000-54584600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:54583000-54584600	Enhancers	Fetal Brain Female	brain
15	chr6:54583000-54584800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:54583200-54583800	Enhancers	Fetal Stomach	stomach
17	chr6:54583200-54584000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:54583200-54585400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:54583400-54583800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:54583400-54584000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:54583400-54584000	Flanking Active TSS	HMEC	breast
22	chr6:54583400-54584800	Enhancers	Fetal Kidney	kidney
23	chr6:54583400-54585000	Enhancers	Fetal Intestine Small	intestine
24	chr6:54583400-54585200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:54583600-54594200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:54583800-54584000	Flanking Active TSS	Fetal Brain Male	brain
27	chr6:54583800-54584600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:54583800-54584800	Weak transcription	Stomach Mucosa	stomach
29	chr6:54583800-54585800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:54583800-54586600	Weak transcription	NHEK	skin
31	chr6:54584000-54584600	Enhancers	HMEC	breast
32	chr6:54584000-54585200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:54584000-54585800	Weak transcription	Fetal Intestine Large	intestine
34	chr6:54584000-54586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:54584400-54584800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:54584600-54585000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:54584600-54585000	Weak transcription	Fetal Brain Female	brain
38	chr6:54584600-54586400	Weak transcription	HMEC	breast
39	chr6:54584600-54586600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:54584800-54585000	Enhancers	Stomach Mucosa	stomach
41	chr6:54585000-54585600	Enhancers	Fetal Brain Female	brain

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