Variant report

Variant	rs2284215
Chromosome Location	chr7:124387871-124387872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124383488..124385926-chr7:124387592..124389109,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs2107932	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2267707	0.83[ASW][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap]
rs2284214	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs35918552	0.80[AMR][1000 genomes]
rs4731206	0.87[AMR][1000 genomes]
rs73221491	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7779096	0.80[AMR][1000 genomes]
rs9641746	0.85[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2284215	ITM2B	trans	lymphoblastoid	seeQTL
rs2284215	CNKSR3	trans	lymphoblastoid	seeQTL
rs2284215	NDUFC1	trans	lymphoblastoid	seeQTL
rs2284215	HYAL4	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124376800-124389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124378600-124396600	Weak transcription	Fetal Lung	lung
3	chr7:124383000-124394800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:124385000-124394800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:124385200-124396600	Weak transcription	Aorta	Aorta
6	chr7:124385400-124388400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:124385600-124388600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:124385800-124395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:124386600-124389000	Enhancers	Brain Angular Gyrus	brain
10	chr7:124387000-124388200	Weak transcription	Pancreas	Pancrea
11	chr7:124387000-124391400	Weak transcription	Fetal Brain Female	brain
12	chr7:124387000-124394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:124387400-124388200	Enhancers	Brain Cingulate Gyrus	brain
14	chr7:124387400-124388400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:124387400-124389000	Weak transcription	Esophagus	oesophagus
16	chr7:124387400-124392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:124387400-124392000	Weak transcription	NHLF	lung
18	chr7:124387400-124395200	Weak transcription	Liver	Liver
19	chr7:124387400-124402600	Weak transcription	Fetal Stomach	stomach
20	chr7:124387600-124388000	Enhancers	Brain Hippocampus Middle	brain
21	chr7:124387600-124388400	Enhancers	Brain Anterior Caudate	brain
22	chr7:124387600-124389400	Weak transcription	Brain Substantia Nigra	brain
23	chr7:124387600-124391200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:124387600-124392000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:124387600-124396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:124387800-124401200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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