Variant report

Variant	rs4713879
Chromosome Location	chr6:35490238-35490239
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35487540..35490871-chr6:35654917..35657662,3	MCF-7	breast:
2	chr6:35478821..35481224-chr6:35489312..35491661,2	K562	blood:
3	chr6:35489138..35492526-chr6:35702598..35706407,3	K562	blood:
4	chr6:35490197..35491331-chr6:35703653..35706040,22	K562	blood:
5	chr6:35463713..35467638-chr6:35488845..35491546,5	K562	blood:
6	chr6:35464547..35467801-chr6:35485995..35490662,5	MCF-7	breast:
7	chr6:35487089..35488630-chr6:35488865..35490692,2	K562	blood:
8	chr6:35464491..35467638-chr6:35489689..35492703,3	K562	blood:
9	chr6:35490017..35491636-chr6:35703434..35704990,2	MCF-7	breast:
10	chr6:35489591..35492334-chr6:35495143..35497651,2	MCF-7	breast:
11	chr6:35440922..35443535-chr6:35489068..35490645,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157343	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000112041	Chromatin interaction
ENSG00000232909	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1540909	0.85[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1540910	0.91[JPT][hapmap]
rs2050162	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2395630	0.96[EUR][1000 genomes]
rs2894402	0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs3807049	0.93[YRI][hapmap]
rs3997734	0.85[EUR][1000 genomes]
rs4634451	0.84[EUR][1000 genomes]
rs4713882	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6935833	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6935976	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs749522	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7764472	0.83[EUR][1000 genomes]
rs9296155	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs9380516	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9470048	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
3	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2761067	chr6:35471246-35573245	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1022435	chr6:35476562-35556141	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1034786	chr6:35476562-35564799	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1031987	chr6:35476562-35579375	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1028302	chr6:35480914-35542591	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv538197	chr6:35480914-35542591	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1024680	chr6:35480914-35555596	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv538198	chr6:35480914-35555596	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1032973	chr6:35481880-35564799	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35480200-35490800	Weak transcription	Right Atrium	heart
2	chr6:35480600-35490600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:35484600-35490400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:35487600-35490400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:35487600-35490400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:35487600-35490600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:35487800-35490400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:35487800-35490400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:35488000-35490400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:35488000-35490400	Weak transcription	HMEC	breast
11	chr6:35489000-35490800	Enhancers	Fetal Muscle Trunk	muscle
12	chr6:35489200-35490400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:35489200-35490600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:35489400-35490400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:35489400-35490400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr6:35489600-35490400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:35489600-35490400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:35489600-35490600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:35489800-35490400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:35489800-35490800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:35490000-35490400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:35490000-35490400	Enhancers	Dnd41	blood
23	chr6:35490000-35490800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:35490000-35490800	Enhancers	Adipose Nuclei	Adipose
25	chr6:35490000-35490800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr6:35490000-35490800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:35490000-35491000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:35490000-35491000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:35490000-35491000	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr6:35490000-35491200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:35490000-35491800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:35490200-35490400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:35490200-35490400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr6:35490200-35490400	Enhancers	GM12878-XiMat	blood
35	chr6:35490200-35490600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr6:35490200-35490600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr6:35490200-35490600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:35490200-35490600	Enhancers	Hela-S3	cervix
39	chr6:35490200-35490800	Enhancers	Primary T cells from cord blood	blood
40	chr6:35490200-35490800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr6:35490200-35490800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:35490200-35491000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:35490200-35491000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr6:35490200-35491000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr6:35490200-35491000	Enhancers	K562	blood
46	chr6:35490200-35491800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:35490200-35491800	Enhancers	Fetal Thymus	thymus

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