Variant report

Variant	rs1591119
Chromosome Location	chr1:76143287-76143288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76140961..76144068-chr1:76250261..76252961,3	K562	blood:
2	chr1:76138718..76140997-chr1:76142345..76144918,2	K562	blood:

Variant related genes	Relation type
ENSG00000206620	Chromatin interaction
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1068884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs1093007	1.00[EUR][1000 genomes]
rs1093010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11161785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11161801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146576	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146585	1.00[EUR][1000 genomes]
rs1146586	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146589	1.00[EUR][1000 genomes]
rs1146595	1.00[EUR][1000 genomes]
rs1146596	1.00[EUR][1000 genomes]
rs1146597	1.00[EUR][1000 genomes]
rs1146599	1.00[EUR][1000 genomes]
rs1146600	1.00[EUR][1000 genomes]
rs1146601	1.00[EUR][1000 genomes]
rs1146604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1250879	1.00[EUR][1000 genomes]
rs1251066	1.00[EUR][1000 genomes]
rs1251074	1.00[EUR][1000 genomes]
rs1251271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1694408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1694423	1.00[EUR][1000 genomes]
rs1759276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1770514	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211714	1.00[EUR][1000 genomes]
rs211720	1.00[EUR][1000 genomes]
rs211734	1.00[EUR][1000 genomes]
rs211735	1.00[EUR][1000 genomes]
rs211738	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2347963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3119821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs381183	1.00[EUR][1000 genomes]
rs392695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs445008	1.00[EUR][1000 genomes]
rs699684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699687	1.00[EUR][1000 genomes]
rs699688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699689	1.00[EUR][1000 genomes]
rs699823	1.00[EUR][1000 genomes]
rs699826	1.00[EUR][1000 genomes]
rs72988778	1.00[AMR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs814852	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs814854	1.00[EUR][1000 genomes]
rs815300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9437227	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76139000-76143400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:76141800-76143800	Active TSS	K562	blood
3	chr1:76142000-76143400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:76142000-76143800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:76142200-76143800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:76142400-76143800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:76142600-76144000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:76142600-76144000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:76142600-76144000	Active TSS	HepG2	liver
10	chr1:76142800-76143400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:76142800-76143800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:76143000-76143400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:76143000-76143800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr1:76143000-76144000	Active TSS	HUES6 Cell Line	embryonic stem cell

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