Variant report

Variant	rs4714068
Chromosome Location	chr6:37455642-37455643
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37452990..37456369-chr6:37463812..37466534,3	K562	blood:
2	chr6:37321870..37324208-chr6:37454012..37456145,2	K562	blood:
3	chr6:37347893..37350321-chr6:37453148..37456084,2	K562	blood:
4	chr6:37451407..37454249-chr6:37454793..37456445,3	K562	blood:
5	chr6:37454869..37462977-chr6:37463391..37469245,23	K562	blood:
6	chr6:37440015..37443370-chr6:37454781..37457774,3	K562	blood:
7	chr6:37454885..37456493-chr6:37473067..37475104,2	K562	blood:
8	chr6:37454324..37456090-chr6:37463248..37465258,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137200	Chromatin interaction
ENSG00000198937	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10807184	0.82[AMR][1000 genomes]
rs10947675	0.83[AMR][1000 genomes]
rs11756241	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12200378	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12202664	0.82[AMR][1000 genomes]
rs12209775	0.84[EUR][1000 genomes]
rs12211110	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1757178	0.87[MEX][hapmap]
rs1757181	0.87[MEX][hapmap]
rs1757188	0.95[MEX][hapmap];0.93[TSI][hapmap]
rs1757189	0.82[AMR][1000 genomes]
rs1776455	0.95[MEX][hapmap];0.95[TSI][hapmap]
rs1874736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2173313	0.82[EUR][1000 genomes]
rs2270687	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2776874	0.82[MEX][hapmap]
rs3818985	0.82[AMR][1000 genomes]
rs4714066	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4714070	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4714071	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62406510	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62408367	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6921922	0.82[AMR][1000 genomes]
rs904251	0.83[MEX][hapmap]
rs9369005	1.00[ASW][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs9380673	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4714068	RNF8	cis	parietal	SCAN
rs4714068	RP1-153P14.8	cis	Whole Blood	GTEx
rs4714068	C6orf129	cis	parietal	SCAN
rs4714068	NCR2	cis	parietal	SCAN
rs4714068	RP1-153P14.5	cis	Whole Blood	GTEx
rs4714068	FTSJD2	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37436200-37457200	Strong transcription	Primary T cells from cord blood	blood
2	chr6:37439200-37456400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:37439200-37456400	Strong transcription	Fetal Intestine Small	intestine
4	chr6:37442000-37458800	Weak transcription	HUVEC	blood vessel
5	chr6:37443600-37466600	Weak transcription	A549	lung
6	chr6:37446800-37466600	Weak transcription	Hela-S3	cervix
7	chr6:37447600-37466800	Weak transcription	HSMM	muscle
8	chr6:37448400-37466800	Weak transcription	Stomach Mucosa	stomach
9	chr6:37448800-37457400	Weak transcription	Psoas Muscle	Psoas
10	chr6:37448800-37457800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:37449200-37457400	Weak transcription	NH-A	brain
12	chr6:37449400-37457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:37449600-37459800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:37449800-37457200	Strong transcription	Fetal Stomach	stomach
15	chr6:37449800-37457400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:37449800-37457600	Weak transcription	Brain Anterior Caudate	brain
17	chr6:37450000-37457200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:37450200-37457400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:37450200-37467200	Weak transcription	Small Intestine	intestine
20	chr6:37450400-37455800	Weak transcription	Right Atrium	heart
21	chr6:37451000-37457800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:37451200-37456200	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr6:37451200-37458400	Weak transcription	Brain Angular Gyrus	brain
24	chr6:37451200-37459600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:37451200-37459800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:37451400-37457200	Weak transcription	Left Ventricle	heart
27	chr6:37451400-37457800	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:37451400-37458600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:37451400-37459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:37451400-37465600	Weak transcription	Colonic Mucosa	Colon
31	chr6:37451600-37455800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:37451600-37457400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:37451600-37457600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:37451600-37458400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:37451600-37466800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:37451600-37467000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr6:37451800-37457200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:37451800-37457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:37451800-37459000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:37451800-37459000	Weak transcription	Liver	Liver
41	chr6:37451800-37462400	Enhancers	Fetal Brain Male	brain
42	chr6:37451800-37466600	Weak transcription	Primary B cells from cord blood	blood
43	chr6:37451800-37466800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:37452000-37455800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:37452000-37455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:37452000-37456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:37452000-37457000	Weak transcription	Right Ventricle	heart
48	chr6:37452000-37457000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:37452000-37457400	Weak transcription	Brain Substantia Nigra	brain
50	chr6:37452000-37457400	Weak transcription	HMEC	breast

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