Variant report

Variant	rs1247552
Chromosome Location	chr6:161187744-161187745
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161185948..161188243-chr6:161411812..161413951,2	K562	blood:
2	chr6:161183337..161185501-chr6:161187046..161189123,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1084654	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1084655	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1084656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1084658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247553	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247554	0.91[ASN][1000 genomes]
rs1247555	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247556	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247557	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247558	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247561	0.82[ASN][1000 genomes]
rs1247562	0.82[ASN][1000 genomes]
rs1247563	0.82[ASN][1000 genomes]
rs1247568	0.82[ASN][1000 genomes]
rs1247570	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1406890	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406891	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614840	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1615527	0.86[EUR][1000 genomes]
rs1620921	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1621801	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1652455	0.85[EUR][1000 genomes]
rs1652482	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1652499	0.91[ASN][1000 genomes]
rs1652500	0.91[ASN][1000 genomes]
rs1652502	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1740432	0.89[EUR][1000 genomes]
rs1740442	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1740443	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1740444	0.82[ASN][1000 genomes]
rs1740446	0.86[EUR][1000 genomes]
rs1830524	0.91[ASN][1000 genomes]
rs2802356	0.82[ASN][1000 genomes]
rs6690	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs783156	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783159	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783160	0.91[ASN][1000 genomes]
rs783161	0.91[ASN][1000 genomes]
rs783162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783163	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs783164	0.91[ASN][1000 genomes]
rs783168	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs783169	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs783171	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783173	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783174	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783175	1.00[ASN][1000 genomes]
rs783177	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783178	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783180	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783182	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1019113	chr6:161127584-161197558	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3352911	chr6:161140543-161324358	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3421398	chr6:161183862-161188260	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161171400-161187800	Weak transcription	Pancreas	Pancrea
2	chr6:161181400-161187800	Weak transcription	Gastric	stomach
3	chr6:161181600-161187800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:161185600-161187800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:161187000-161188800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:161187400-161188800	Active TSS	Fetal Brain Female	brain
7	chr6:161187600-161187800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:161187600-161187800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr6:161187600-161187800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:161187600-161187800	Enhancers	Brain Angular Gyrus	brain
11	chr6:161187600-161187800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:161187600-161187800	Enhancers	Colon Smooth Muscle	Colon
13	chr6:161187600-161187800	Bivalent Enhancer	HepG2	liver
14	chr6:161187600-161187800	Enhancers	HMEC	breast
15	chr6:161187600-161188000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:161187600-161188000	Active TSS	Fetal Brain Male	brain
17	chr6:161187600-161188000	Flanking Active TSS	GM12878-XiMat	blood
18	chr6:161187600-161188400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:161187600-161188400	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:161187600-161188600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr6:161187600-161188600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:161187600-161188600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:161187600-161188600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:161187600-161188600	Active TSS	Brain Cingulate Gyrus	brain
25	chr6:161187600-161188600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:161187600-161188800	Active TSS	Brain Anterior Caudate	brain
27	chr6:161187600-161188800	Enhancers	Fetal Lung	lung
28	chr6:161187600-161188800	Active TSS	NHEK	skin

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