Variant report

Variant	rs4931677
Chromosome Location	chr12:33142594-33142595
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	chr12:33137708..33139764-chr12:33142209..33143776,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257316	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10844398	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10844443	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11052322	0.80[EUR][1000 genomes]
rs11052382	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11052397	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11052403	0.84[CEU][hapmap]
rs11052410	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11513272	0.85[EUR][1000 genomes]
rs12367772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368488	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12369282	0.83[EUR][1000 genomes]
rs12370292	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12424673	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1392334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846637	0.88[CEU][hapmap]
rs2133676	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35308520	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4931674	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61927344	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61928782	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61928784	0.87[EUR][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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33140400-33144400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:33140600-33164800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:33141600-33142800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:33141600-33142800	Enhancers	Hela-S3	cervix
5	chr12:33141600-33143000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:33141600-33143200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:33141600-33143800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:33141600-33147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:33141800-33143600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:33142000-33143000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:33142000-33143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:33142000-33143200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:33142000-33143200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:33142000-33143600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:33142000-33144400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:33142200-33143400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:33142200-33143400	Weak transcription	Placenta	Placenta
18	chr12:33142200-33144200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:33142400-33142800	Weak transcription	H1 Cell Line	embryonic stem cell

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