Variant report

Variant	nsv886943
Chromosome Location	chr6:167440244-167502638
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:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:167446559..167451164-chr6:167453044..167456262,4	K562	blood:
2	chr6:167459004..167459905-chr6:167555024..167555917,3	MCF-7	breast:
3	chr6:167424149..167427118-chr6:167441953..167443823,2	K562	blood:
4	chr6:167442856..167445565-chr6:167449588..167451484,2	K562	blood:
5	chr6:167438329..167440773-chr6:167442829..167444419,2	K562	blood:
6	chr6:167428569..167431228-chr6:167442588..167444802,2	K562	blood:
7	chr6:167438895..167441335-chr6:167445093..167449039,4	K562	blood:
8	chr6:167382648..167385296-chr6:167441304..167444220,2	K562	blood:
9	chr6:167446559..167451164-chr6:167453044..167456262,4	K562	blood:
10	chr6:167433511..167435298-chr6:167462855..167465719,2	K562	blood:
11	chr6:167411246..167413456-chr6:167456024..167457540,2	K562	blood:
12	chr6:167441965..167443908-chr6:167444261..167446569,2	MCF-7	breast:
13	chr6:167433967..167438012-chr6:167438507..167442863,4	K562	blood:
14	chr6:167454169..167455868-chr6:167473255..167476211,2	K562	blood:
15	chr6:167453011..167457183-chr6:167458189..167461851,4	K562	blood:
16	chr6:167441965..167443908-chr6:167444261..167446569,2	MCF-7	breast:
17	chr6:167454169..167455868-chr6:167473255..167476211,2	K562	blood:
18	chr6:167438329..167440773-chr6:167442829..167444419,2	K562	blood:
19	chr6:167442856..167445565-chr6:167449588..167451484,2	K562	blood:
20	chr6:167188018..167188945-chr6:167458801..167459761,3	MCF-7	breast:
21	chr6:167487932..167489942-chr6:167492963..167495055,2	K562	blood:
22	chr6:167150380..167152971-chr6:167466714..167468496,2	K562	blood:
23	chr6:167410835..167412636-chr6:167439042..167441228,2	K562	blood:
24	chr6:167433967..167440072-chr6:167441363..167445632,6	K562	blood:
25	chr6:167438895..167441335-chr6:167445093..167449039,4	K562	blood:
26	chr6:167200327..167200836-chr6:167459295..167459843,2	K562	blood:
27	chr6:167487932..167489942-chr6:167492963..167495055,2	K562	blood:
28	chr6:167453011..167457183-chr6:167458189..167461851,4	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

Variant related genes	Relation type
ENSG00000272980	chromatin interactions
ENSG00000265828	chromatin interactions
ENSG00000213066	chromatin interactions
ENSG00000227598	chromatin interactions

Extended variants
information (count: 1980 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1980 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2282860	chr6:167440244-167440245	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569815291	chr6:167440260-167440261	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs181192257	chr6:167440281-167440282	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558243045	chr6:167440301-167440302	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs568868829	chr6:167440302-167440303	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs139213037	chr6:167440313-167440314	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs536562635	chr6:167440337-167440338	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372064603	chr6:167440344-167440345	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs574697273	chr6:167440356-167440357	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs185578637	chr6:167440359-167440360	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs564026338	chr6:167440396-167440397	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs189895555	chr6:167440423-167440424	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs116066664	chr6:167440479-167440480	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs560840835	chr6:167440486-167440487	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs9459845	chr6:167440501-167440502	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs182107912	chr6:167440502-167440503	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs369870273	chr6:167440505-167440506	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs547118016	chr6:167440558-167440559	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs142494266	chr6:167440565-167440566	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs77013080	chr6:167440567-167440568	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs145963480	chr6:167440606-167440607	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs73028288	chr6:167440618-167440619	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553073423	chr6:167440653-167440654	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs188085161	chr6:167440676-167440677	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs191004551	chr6:167440698-167440699	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs570364031	chr6:167440705-167440706	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs9457257	chr6:167440736-167440737	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs552673596	chr6:167440747-167440748	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574162115	chr6:167440750-167440751	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs58384807	chr6:167440756-167440757	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs80058439	chr6:167440779-167440780	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs373234952	chr6:167440861-167440862	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs557012178	chr6:167440883-167440884	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs56102000	chr6:167440901-167440902	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575940404	chr6:167440912-167440913	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs532287043	chr6:167440922-167440923	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs61710173	chr6:167440960-167440961	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs67949179	chr6:167440961-167440962	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs397740215	chr6:167440964-167440965	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs9459846	chr6:167441023-167441024	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs142057315	chr6:167441040-167441041	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs573295828	chr6:167441061-167441062	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs183806347	chr6:167441090-167441091	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376345843	chr6:167441169-167441170	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs562197319	chr6:167441192-167441193	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs529383031	chr6:167441197-167441198	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs548410081	chr6:167441209-167441210	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs188291876	chr6:167441225-167441226	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs530693530	chr6:167441261-167441262	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73028290	chr6:167441394-167441395	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167413600-167449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:167413600-167452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:167414600-167440800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:167414600-167441000	Weak transcription	Psoas Muscle	Psoas
5	chr6:167414600-167448000	Weak transcription	Small Intestine	intestine
6	chr6:167414600-167450200	Weak transcription	Stomach Mucosa	stomach
7	chr6:167415200-167440800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:167415400-167454000	Strong transcription	Fetal Thymus	thymus
9	chr6:167415400-167456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:167416000-167444600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:167417200-167455400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:167417600-167443000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr6:167417600-167446000	Strong transcription	Dnd41	blood
14	chr6:167417600-167454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:167417800-167455200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:167420800-167447600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:167423000-167446400	Strong transcription	HepG2	liver
18	chr6:167423000-167457600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:167423400-167446400	Strong transcription	Liver	Liver
20	chr6:167423400-167452200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr6:167424000-167442600	Strong transcription	K562	blood
22	chr6:167424800-167442000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:167425600-167441000	Weak transcription	NHLF	lung
24	chr6:167425600-167453000	Weak transcription	Brain Substantia Nigra	brain
25	chr6:167426600-167450600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:167429200-167441400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:167429200-167447600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:167429400-167441600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:167431400-167440600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:167431400-167444600	Strong transcription	Osteobl	bone
31	chr6:167431600-167441600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:167432200-167450200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:167433600-167440600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:167433800-167440800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:167434200-167450600	Strong transcription	GM12878-XiMat	blood
36	chr6:167434600-167441800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:167434800-167440800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr6:167434800-167442800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:167434800-167445600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:167434800-167452000	Strong transcription	Primary T cells from cord blood	blood
41	chr6:167435000-167445800	Strong transcription	Fetal Intestine Large	intestine
42	chr6:167435200-167440600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:167435200-167443000	Strong transcription	Primary B cells from cord blood	blood
44	chr6:167435400-167446000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:167435600-167444600	Strong transcription	Fetal Brain Female	brain
46	chr6:167435800-167440600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr6:167435800-167442000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:167435800-167445200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr6:167435800-167445400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr6:167435800-167445600	Strong transcription	Fetal Muscle Trunk	muscle

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