Variant report

Variant	rs2030641
Chromosome Location	chr9:110504472-110504473
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	chr9:110503474..110505849-chr9:110510284..110512558,2	MCF-7	breast:
2	chr9:110251154..110252819-chr9:110502244..110504957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10115546	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10119850	0.80[CHB][hapmap]
rs10979032	0.83[AMR][1000 genomes]
rs13285373	0.81[AMR][1000 genomes]
rs2030640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4978563	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4979329	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7470561	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857211	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427850	chr9:110456613-110632324	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv428221	chr9:110456613-110632324	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv520911	chr9:110504358-110517794	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2030641	ACTL7A	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110496000-110510800	Weak transcription	Aorta	Aorta
2	chr9:110497200-110506600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr9:110497200-110506800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr9:110497400-110510800	Weak transcription	Psoas Muscle	Psoas
5	chr9:110499400-110504800	Enhancers	Fetal Muscle Trunk	muscle
6	chr9:110499800-110505200	Enhancers	Adipose Nuclei	Adipose
7	chr9:110500000-110505000	Weak transcription	Spleen	Spleen
8	chr9:110500800-110511600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:110501000-110507000	Weak transcription	GM12878-XiMat	blood
10	chr9:110501200-110510600	Weak transcription	Brain Anterior Caudate	brain
11	chr9:110502600-110504800	Weak transcription	Fetal Brain Male	brain
12	chr9:110502600-110511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:110503000-110504800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:110503000-110504800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:110503000-110504800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:110503000-110504800	Weak transcription	Esophagus	oesophagus
17	chr9:110503000-110510400	Weak transcription	Right Ventricle	heart
18	chr9:110503000-110510600	Weak transcription	Left Ventricle	heart
19	chr9:110503000-110510800	Weak transcription	Placenta	Placenta
20	chr9:110503000-110511400	Weak transcription	NHLF	lung
21	chr9:110503600-110505200	Enhancers	Fetal Lung	lung
22	chr9:110503800-110504800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:110504000-110505600	Enhancers	Ovary	ovary
24	chr9:110504200-110504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:110504200-110504600	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:110504200-110504800	Enhancers	Right Atrium	heart
27	chr9:110504200-110505200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:110504200-110505200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:110504200-110505200	Enhancers	NHEK	skin
30	chr9:110504400-110505000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:110504400-110505400	Enhancers	Fetal Stomach	stomach
32	chr9:110504400-110512000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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