Variant report

Variant	rs12563307
Chromosome Location	chr1:197453203-197453204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197453193..197454725-chr1:197742799..197744703,2	MCF-7	breast:
2	chr1:197450993..197453790-chr1:197461904..197464063,2	K562	blood:

Variant related genes	Relation type
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10494758	0.80[EUR][1000 genomes]
rs10754224	0.82[EUR][1000 genomes]
rs10801603	0.86[CEU][hapmap]
rs10922234	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10922251	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10922253	0.90[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs10922261	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12023045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025476	0.80[EUR][1000 genomes]
rs12028758	0.80[EUR][1000 genomes]
rs12041661	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12125739	0.80[EUR][1000 genomes]
rs12131160	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12133885	0.85[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap]
rs12134409	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12563879	0.80[EUR][1000 genomes]
rs12731480	0.80[EUR][1000 genomes]
rs12744898	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1337167	0.86[CEU][hapmap]
rs1337168	0.86[CEU][hapmap]
rs1747811	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17554990	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1775450	0.85[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap]
rs1775453	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs2111931	0.80[EUR][1000 genomes]
rs2193733	0.90[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap]
rs2476019	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2476023	0.90[CEU][hapmap]
rs2494269	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2759656	0.90[CEU][hapmap]
rs2759661	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2786098	0.86[CEU][hapmap]
rs2786101	0.86[CEU][hapmap]
rs2786116	0.86[CEU][hapmap]
rs2786117	0.86[CEU][hapmap]
rs2786119	0.85[CEU][hapmap]
rs2821107	0.90[CEU][hapmap]
rs2821115	0.86[CEU][hapmap]
rs2821116	0.86[CEU][hapmap]
rs2821117	0.85[CEU][hapmap]
rs2821125	0.86[CEU][hapmap]
rs2821132	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs34261593	0.80[EUR][1000 genomes]
rs4303099	0.80[EUR][1000 genomes]
rs4915550	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4915552	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6677361	0.84[CHB][hapmap]
rs6682689	0.80[EUR][1000 genomes]
rs6685222	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs6688993	0.80[EUR][1000 genomes]
rs6691173	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197440800-197456200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:197441200-197454400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:197441200-197456000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:197441400-197456400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:197447000-197454600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:197451200-197453600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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