Variant report

Variant	rs209189
Chromosome Location	chr6:28782511-28782512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28774872..28779186-chr6:28780865..28786550,9	K562	blood:
2	chr6:28723977..28727923-chr6:28779903..28783132,3	K562	blood:
3	chr6:27112538..27114831-chr6:28781719..28783622,2	K562	blood:

Variant related genes	Relation type
ENSG00000197903	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10498733	0.87[AMR][1000 genomes]
rs12386522	0.89[EUR][1000 genomes]
rs169682	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17375288	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs185982	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1936180	0.87[AMR][1000 genomes]
rs209190	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs209192	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs209193	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs209199	0.97[AFR][1000 genomes]
rs2754761	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2754762	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2754763	0.96[EUR][1000 genomes]
rs2754765	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765222	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2765223	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs398795	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs41270616	0.89[EUR][1000 genomes]
rs453020	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55908628	0.82[EUR][1000 genomes]
rs56030816	0.81[AFR][1000 genomes]
rs56110474	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56271755	0.96[EUR][1000 genomes]
rs56308612	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56374518	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56678427	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs57491524	0.94[AFR][1000 genomes]
rs58104924	0.87[AMR][1000 genomes]
rs6938988	0.81[AFR][1000 genomes]
rs6939948	0.81[AFR][1000 genomes]
rs7739915	1.00[ASN][1000 genomes]
rs7755641	0.87[AMR][1000 genomes]
rs9468439	0.89[EUR][1000 genomes]
rs9468440	0.89[EUR][1000 genomes]
rs9468445	0.96[EUR][1000 genomes]
rs9468447	0.89[EUR][1000 genomes]
rs9468450	0.86[EUR][1000 genomes]
rs9468451	0.89[EUR][1000 genomes]
rs9468460	0.82[EUR][1000 genomes]
rs9500892	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883517	chr6:28751727-28802149	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv9558	chr6:28770281-28785058	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3410540	chr6:28770455-28785112	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3322630	chr6:28770519-28785092	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3486939	chr6:28770525-28785051	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3486940	chr6:28770525-28785051	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3403106	chr6:28770790-28785189	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv970724	chr6:28778144-28784760	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28780000-28782600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:28780600-28782800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:28780800-28782600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:28781200-28782600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:28781400-28782600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr6:28781400-28782600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr6:28781800-28782600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr6:28781800-28782600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:28781800-28782600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:28781800-28782600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr6:28781800-28782600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr6:28781800-28782600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr6:28781800-28782600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr6:28781800-28782600	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr6:28782000-28782600	Bivalent/Poised TSS	HSMM	muscle
16	chr6:28782200-28782600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:28782200-28782600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr6:28782200-28782600	Flanking Bivalent TSS/Enh	NHEK	skin
19	chr6:28782400-28782600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:28782400-28782600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:28782400-28782600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr6:28782400-28782600	Flanking Active TSS	K562	blood
23	chr6:28782400-28782800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:28782400-28783200	Bivalent Enhancer	HepG2	liver
25	chr6:28782400-28784000	Weak transcription	HMEC	breast

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