Variant report

Variant	rs1219652
Chromosome Location	chr1:226403187-226403188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226401377..226404931-chr1:226406831..226410956,4	MCF-7	breast:
2	chr1:226373756..226375724-chr1:226401681..226404608,2	K562	blood:
3	chr1:226403012..226406009-chr1:226466558..226469360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10753418	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap]
rs1219654	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1219659	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1228409	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1361559	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2306119	0.85[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs2927339	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3008189	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3008190	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3008191	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3008192	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6668540	0.86[ASN][1000 genomes]
rs6703375	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7367845	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7368170	0.95[CHB][hapmap]
rs9286999	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9629826	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9728663	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9728665	0.88[AMR][1000 genomes];0.94[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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1219652	ACBD3	Cis_1M	lymphoblastoid	RTeQTL
rs1219652	ACBD3	cis	normal skin	skin_eQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
2	chr1:226399000-226411200	Weak transcription	Gastric	stomach
3	chr1:226399200-226403200	Weak transcription	K562	blood
4	chr1:226400000-226404400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:226400200-226403400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:226401000-226410800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:226401600-226403400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:226402200-226403200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:226402200-226403200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:226402200-226403400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:226402200-226403400	Enhancers	HMEC	breast
12	chr1:226402400-226403200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:226402400-226403200	Enhancers	Placenta	Placenta
14	chr1:226402400-226403400	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:226402400-226403400	Enhancers	GM12878-XiMat	blood
16	chr1:226402400-226404000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:226402400-226405600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:226402400-226405600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:226402800-226403200	Enhancers	Primary B cells from cord blood	blood
20	chr1:226402800-226403400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:226402800-226403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:226402800-226404200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:226402800-226404200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:226402800-226404200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:226403000-226403200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:226403000-226403200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:226403000-226403200	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr1:226403000-226403400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:226403000-226403600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:226403000-226404000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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