Variant report

Variant	rs9288418
Chromosome Location	chr2:211465113-211465114
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	chr2:211464829..211466869-chr2:211468442..211470254,2	K562	blood:

Variant related genes	Relation type
ENSG00000021826	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10180357	0.94[ASN][1000 genomes]
rs11680040	0.82[EUR][1000 genomes]
rs11684318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685945	0.82[JPT][hapmap]
rs12468557	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs6750325	0.82[JPT][hapmap]
rs6760497	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7587791	0.82[JPT][hapmap]
rs7588072	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607205	0.82[JPT][hapmap]
rs7607412	0.88[CEU][hapmap];0.82[JPT][hapmap]

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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9288418	ACADL	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211442400-211484200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:211442800-211477800	Strong transcription	Liver	Liver
3	chr2:211448600-211480800	Weak transcription	Aorta	Aorta
4	chr2:211448800-211475400	Weak transcription	Ovary	ovary
5	chr2:211449800-211467000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:211450000-211466800	Weak transcription	HepG2	liver
7	chr2:211450200-211481400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr2:211457800-211467800	Weak transcription	HSMM	muscle
9	chr2:211458200-211471000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:211458600-211465800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:211458600-211485000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:211459000-211475600	Strong transcription	Hela-S3	cervix
13	chr2:211459200-211465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:211462400-211470200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:211462600-211469600	Strong transcription	Fetal Intestine Large	intestine
16	chr2:211463800-211465800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:211463800-211474800	Weak transcription	Left Ventricle	heart
18	chr2:211464000-211466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:211464000-211468600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:211464400-211468000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:211464400-211480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:211464600-211471000	Weak transcription	Adipose Nuclei	Adipose

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