Variant report

Variant	rs12727463
Chromosome Location	chr1:10889826-10889827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10876866..10879184-chr1:10889466..10891905,3	K562	blood:
2	chr1:10888572..10890725-chr1:10893676..10896099,3	K562	blood:
3	chr1:10889433..10892912-chr1:10893269..10895457,3	MCF-7	breast:
4	chr1:10887422..10891418-chr1:10892933..10896099,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12731652	0.83[EUR][1000 genomes]
rs12747228	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34473345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35677622	0.83[EUR][1000 genomes]
rs35897090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574737	0.99[ASN][1000 genomes]
rs634478	0.86[ASN][1000 genomes]
rs71645014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74052536	1.00[ASN][1000 genomes]
rs7534054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS 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	68 gene(s)	inside rSNPs	diseases
3	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv871772	chr1:10832322-10894724	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv870589	chr1:10840905-10901994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv871617	chr1:10858746-10935232	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv871155	chr1:10858746-10998509	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv1825837	chr1:10887923-11093741	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10883600-10902800	Weak transcription	Right Atrium	heart
2	chr1:10884400-10890000	Weak transcription	Fetal Heart	heart
3	chr1:10885000-10895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:10886000-10890400	Weak transcription	Esophagus	oesophagus
5	chr1:10886200-10890200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:10886200-10890400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:10886200-10890400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:10886200-10890400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:10886200-10890400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:10886200-10890800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:10886200-10890800	Weak transcription	HMEC	breast
12	chr1:10886400-10890400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:10886400-10890400	Weak transcription	NHEK	skin
14	chr1:10887600-10890800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:10888400-10890000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:10888600-10890000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:10888800-10890400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:10889000-10895800	Weak transcription	Pancreas	Pancrea
19	chr1:10889200-10890200	Enhancers	Liver	Liver
20	chr1:10889600-10890600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:10889600-10894200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:10889800-10890000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr1:10889800-10890400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:10889800-10890400	Bivalent Enhancer	HepG2	liver
25	chr1:10889800-10890800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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