Variant report

Variant	rs17753048
Chromosome Location	chr2:64292988-64292989
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	chr2:64291575..64294023-chr2:64351680..64354001,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12993544	1.00[YRI][hapmap]
rs13032357	1.00[CHB][hapmap]
rs17701941	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17752868	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17753018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287361	1.00[YRI][hapmap]
rs4544421	1.00[YRI][hapmap]
rs4599090	1.00[YRI][hapmap]

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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17753048	BCL11A	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64289400-64293000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:64289600-64293000	Enhancers	NHEK	skin
3	chr2:64290000-64293000	Enhancers	Fetal Thymus	thymus
4	chr2:64290000-64293200	Enhancers	Placenta	Placenta
5	chr2:64290200-64293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:64290200-64293000	Enhancers	HMEC	breast
7	chr2:64290600-64293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:64290600-64294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:64290800-64293800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:64291000-64293200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:64291000-64294800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:64291200-64293000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:64291200-64294000	Weak transcription	Lung	lung
14	chr2:64291200-64294600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:64291400-64293400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:64291800-64293000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:64291800-64293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:64291800-64293400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:64291800-64293400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:64291800-64293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:64291800-64294200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:64292000-64293000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:64292200-64293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:64292200-64294400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:64292400-64293800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:64292400-64294600	Weak transcription	Thymus	Thymus
27	chr2:64292600-64293000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:64292800-64294200	Weak transcription	K562	blood

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