Variant report

Variant	esv1837292
Chromosome Location	chr6:167461501-167489090
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:167487932..167489942-chr6:167492963..167495055,2	K562	blood:
2	chr6:167453011..167457183-chr6:167458189..167461851,4	K562	blood:
3	chr6:167150380..167152971-chr6:167466714..167468496,2	K562	blood:
4	chr6:167454169..167455868-chr6:167473255..167476211,2	K562	blood:
5	chr6:167433511..167435298-chr6:167462855..167465719,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFR1OP-8	chr6:167465448-167466347	NONHSAT116076

No data

Extended variants
information (count: 582 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12529876	chr6:167461501-167461502	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113041569	chr6:167461508-167461509	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369186274	chr6:167461540-167461541	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34463844	chr6:167461548-167461549	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10484530	chr6:167461562-167461563	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs377269463	chr6:167461563-167461564	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183598345	chr6:167461637-167461638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189471544	chr6:167461638-167461639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542769144	chr6:167461644-167461645	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12528323	chr6:167461645-167461646	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs542609078	chr6:167461657-167461658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs118063625	chr6:167461663-167461664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs66940113	chr6:167461676-167461677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201848539	chr6:167461677-167461678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12528689	chr6:167461746-167461747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs569214604	chr6:167461761-167461762	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs151073754	chr6:167461825-167461826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550203535	chr6:167461858-167461859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192417842	chr6:167461897-167461898	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568981221	chr6:167461952-167461953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185446346	chr6:167461953-167461954	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs13208636	chr6:167461965-167461966	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs147217535	chr6:167461968-167461969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533809950	chr6:167461975-167461976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555410339	chr6:167462070-167462071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373711558	chr6:167462142-167462143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567222791	chr6:167462162-167462163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537565277	chr6:167462166-167462167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556189635	chr6:167462169-167462170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551582334	chr6:167462269-167462270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140546310	chr6:167462295-167462296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144369720	chr6:167462329-167462330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572397976	chr6:167462415-167462416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190301393	chr6:167462458-167462459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566571831	chr6:167462535-167462536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560951818	chr6:167462539-167462540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147799275	chr6:167462563-167462564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533954742	chr6:167462635-167462636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79817093	chr6:167462643-167462644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181506180	chr6:167462646-167462647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565366864	chr6:167462738-167462739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566763806	chr6:167462748-167462749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555053392	chr6:167462780-167462781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533799165	chr6:167462789-167462790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186572165	chr6:167462838-167462839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78352161	chr6:167462858-167462859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142520468	chr6:167462861-167462862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558348622	chr6:167462928-167462929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188661109	chr6:167462932-167462933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71571474	chr6:167462942-167462943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167441000-167461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:167441400-167473400	Weak transcription	Psoas Muscle	Psoas
3	chr6:167448200-167467200	Weak transcription	HMEC	breast
4	chr6:167448400-167467200	Weak transcription	NHEK	skin
5	chr6:167449000-167467800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:167449000-167470400	Weak transcription	Brain Anterior Caudate	brain
7	chr6:167449800-167462800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:167450000-167467400	Weak transcription	Ovary	ovary
9	chr6:167450200-167463000	Weak transcription	Brain Germinal Matrix	brain
10	chr6:167450600-167463000	Weak transcription	Fetal Brain Female	brain
11	chr6:167451600-167461600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:167451600-167462000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:167451600-167463600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:167451600-167467000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:167451600-167467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:167451600-167468400	Weak transcription	Esophagus	oesophagus
17	chr6:167454000-167463400	Weak transcription	Aorta	Aorta
18	chr6:167454000-167464600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:167454200-167462600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:167454400-167461600	Weak transcription	A549	lung
21	chr6:167454400-167463200	Weak transcription	Brain Substantia Nigra	brain
22	chr6:167454600-167464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:167455000-167462600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:167455000-167462800	Weak transcription	HSMM	muscle
25	chr6:167455000-167470600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:167455200-167467600	Weak transcription	Liver	Liver
27	chr6:167456200-167467000	Weak transcription	Left Ventricle	heart
28	chr6:167456200-167467400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:167456200-167468400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:167456200-167470800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:167456600-167463000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:167456600-167473200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:167456800-167467200	Weak transcription	Right Ventricle	heart
34	chr6:167458400-167462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:167458400-167462200	Weak transcription	Dnd41	blood
36	chr6:167458400-167462400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:167458400-167462600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:167458400-167463800	Weak transcription	Pancreas	Pancrea
39	chr6:167458400-167465800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:167458400-167471200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:167458600-167469000	Weak transcription	Fetal Stomach	stomach
42	chr6:167459800-167461800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:167459800-167462400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr6:167459800-167462800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:167460000-167462000	Enhancers	Primary hematopoietic stem cells	blood
46	chr6:167460000-167462000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:167460200-167461800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:167460200-167461800	Enhancers	Fetal Thymus	thymus
49	chr6:167460200-167464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:167460400-167461800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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