Variant report

Variant	rs2912748
Chromosome Location	chr12:106648862-106648863
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	chr12:106645468..106647361-chr12:106648038..106649886,2	MCF-7	breast:
2	chr12:106647187..106649805-chr12:106683824..106686258,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1148420	1.00[ASN][1000 genomes]
rs1148424	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148425	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1215754	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1215755	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1230058	1.00[ASN][1000 genomes]
rs12711453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704897	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936702	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952114	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799917	chr12:106637876-106649988	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1834434	chr12:106637876-106649988	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3423758	chr12:106646369-106649583	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv6114	chr12:106646456-106649695	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106644200-106649800	Weak transcription	Fetal Heart	heart
2	chr12:106644400-106649400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:106646200-106658800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:106647600-106649000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:106647600-106649000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:106647800-106649000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:106647800-106649000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:106647800-106649200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:106647800-106649600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:106647800-106649800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:106647800-106649800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:106648000-106649000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:106648200-106649000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:106648400-106649000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:106648400-106649000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:106648400-106649400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:106648600-106649200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:106648600-106649600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:106648800-106649000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:106648800-106649200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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