Variant report

Variant	rs7548884
Chromosome Location	chr1:180483099-180483100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180482613..180485194-chr1:180487657..180489880,2	MCF-7	breast:
2	chr1:180469551..180474488-chr1:180483022..180486848,5	K562	blood:
3	chr1:180470071..180472418-chr1:180482968..180484619,2	MCF-7	breast:
4	chr1:180478572..180480804-chr1:180482569..180485229,3	K562	blood:
5	chr1:180476735..180478497-chr1:180482619..180484583,3	K562	blood:

Variant related genes	Relation type
ENSG00000206905	Chromatin interaction
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10157891	1.00[ASN][1000 genomes]
rs10733004	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10737343	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10737344	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10737345	1.00[ASN][1000 genomes]
rs10753210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753213	1.00[ASN][1000 genomes]
rs10753214	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10798744	1.00[ASN][1000 genomes]
rs10798749	1.00[ASN][1000 genomes]
rs10798763	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10798764	1.00[ASN][1000 genomes]
rs10913972	1.00[ASN][1000 genomes]
rs10914011	1.00[ASN][1000 genomes]
rs10914019	1.00[ASN][1000 genomes]
rs10914020	1.00[ASN][1000 genomes]
rs1094597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1094598	1.00[ASN][1000 genomes]
rs1094599	1.00[ASN][1000 genomes]
rs12027553	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12077904	1.00[ASN][1000 genomes]
rs12144149	1.00[ASN][1000 genomes]
rs12565152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1339722	1.00[ASN][1000 genomes]
rs1339723	1.00[ASN][1000 genomes]
rs1339726	1.00[ASN][1000 genomes]
rs1361363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361628	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1418100	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1418103	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1556935	1.00[ASN][1000 genomes]
rs1556938	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1591898	1.00[ASN][1000 genomes]
rs1934411	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1935283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961741	1.00[ASN][1000 genomes]
rs2153327	1.00[JPT][hapmap]
rs2153753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2331739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764432	1.00[ASN][1000 genomes]
rs2764434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764435	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764436	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764438	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764439	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764441	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2764442	1.00[ASN][1000 genomes]
rs2764444	1.00[ASN][1000 genomes]
rs2794972	1.00[ASN][1000 genomes]
rs2794973	1.00[ASN][1000 genomes]
rs2794974	1.00[ASN][1000 genomes]
rs2794975	1.00[ASN][1000 genomes]
rs2794976	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4259605	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4281291	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4304539	1.00[ASN][1000 genomes]
rs4333819	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4532796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4540612	1.00[ASN][1000 genomes]
rs4609392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651061	1.00[ASN][1000 genomes]
rs4651063	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4651066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4651067	1.00[ASN][1000 genomes]
rs4652501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652510	0.81[ASN][1000 genomes]
rs6425620	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6425621	1.00[ASN][1000 genomes]
rs6425622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6425623	1.00[ASN][1000 genomes]
rs6425624	1.00[ASN][1000 genomes]
rs6425626	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6425630	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6425642	1.00[ASN][1000 genomes]
rs6425647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6659147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6664944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6665615	1.00[ASN][1000 genomes]
rs6667478	1.00[ASN][1000 genomes]
rs6669304	1.00[ASN][1000 genomes]
rs6677367	1.00[ASN][1000 genomes]
rs6678261	0.81[ASN][1000 genomes]
rs6680754	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6682067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6683484	1.00[ASN][1000 genomes]
rs6684842	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687873	1.00[ASN][1000 genomes]
rs6691333	1.00[ASN][1000 genomes]
rs6695360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7515052	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7522928	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7526743	1.00[ASN][1000 genomes]
rs7529042	0.81[ASN][1000 genomes]
rs7530015	1.00[CHB][hapmap]
rs7532972	1.00[ASN][1000 genomes]
rs7542568	0.81[ASN][1000 genomes]
rs7543143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546030	1.00[ASN][1000 genomes]
rs7548707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7555087	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs822704	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs822705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs863720	1.00[ASN][1000 genomes]
rs863721	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9425879	1.00[ASN][1000 genomes]
rs946633	1.00[ASN][1000 genomes]
rs946634	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180472800-180488800	Weak transcription	Right Atrium	heart
2	chr1:180478800-180483400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:180481600-180485200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:180481800-180491200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:180482000-180485200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:180482000-180485400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:180482600-180485200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:180482800-180484400	Weak transcription	K562	blood
9	chr1:180483000-180484800	Weak transcription	HepG2	liver

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