Variant report

Variant	rs12127710
Chromosome Location	chr1:103324283-103324284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:103324235-103324615	SK-N-MC	brain:	n/a	n/a
2	TCF12	chr1:103324081-103324791	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr1:103324091-103324757	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:103323089..103325462-chr8:4135925..4138695,2	MCF-7	breast:
2	chr1:103322613..103325550-chr1:103327919..103330236,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230864	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11164619	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164623	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164640	0.81[EUR][1000 genomes]
rs11485379	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073619	0.82[AFR][1000 genomes]
rs12079176	0.88[AFR][1000 genomes]
rs12116546	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12117071	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119468	0.87[EUR][1000 genomes]
rs12120318	0.87[EUR][1000 genomes]
rs12120961	0.87[EUR][1000 genomes]
rs12121498	0.87[EUR][1000 genomes]
rs12124674	0.87[EUR][1000 genomes]
rs12125551	0.87[EUR][1000 genomes]
rs12126530	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127007	0.87[EUR][1000 genomes]
rs12128743	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130285	0.87[EUR][1000 genomes]
rs12133116	0.87[EUR][1000 genomes]
rs12133437	0.82[EUR][1000 genomes]
rs12133515	0.87[EUR][1000 genomes]
rs12135438	0.86[EUR][1000 genomes]
rs12136421	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140704	0.82[EUR][1000 genomes]
rs12140745	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142137	0.87[EUR][1000 genomes]
rs1963969	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061706	0.91[EUR][1000 genomes]
rs2061707	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2376260	0.87[EUR][1000 genomes]
rs2889331	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703720	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72983785	0.81[EUR][1000 genomes]
rs73000234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520435	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553464	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830882	chr1:103192683-103355802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103318400-103324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:103323600-103324400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:103323600-103325000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:103323800-103324800	Enhancers	Fetal Intestine Large	intestine
5	chr1:103323800-103324800	Enhancers	NHDF-Ad	bronchial
6	chr1:103323800-103325000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:103324000-103324600	Enhancers	Fetal Intestine Small	intestine
8	chr1:103324000-103324800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:103324000-103324800	Enhancers	Placenta	Placenta
10	chr1:103324000-103324800	Enhancers	Osteobl	bone
11	chr1:103324000-103325000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:103324200-103325000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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