Variant report

Variant	rs12118224
Chromosome Location	chr1:224835036-224835037
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	chr1:224826905..224830184-chr1:224832363..224835221,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10495223	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10495224	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10915689	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12123347	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12133496	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12133529	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12134264	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12135077	0.94[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12144488	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12145463	1.00[CEU][hapmap];0.80[JPT][hapmap];0.92[EUR][1000 genomes]
rs16851528	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17513562	0.80[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs3738364	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58158731	0.93[EUR][1000 genomes]
rs58715712	0.88[AFR][1000 genomes]
rs59962884	0.88[AFR][1000 genomes]
rs6426145	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6426146	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6666840	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6666853	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6666929	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6676362	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6676444	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
2	chr1:224826000-224839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224826400-224837800	Weak transcription	NHLF	lung
4	chr1:224827000-224839800	Weak transcription	HSMM	muscle
5	chr1:224828600-224837800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:224829800-224835200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:224830800-224835200	Weak transcription	NH-A	brain
9	chr1:224831600-224835600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:224832200-224839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:224832800-224837600	Weak transcription	Ovary	ovary
13	chr1:224832800-224838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:224832800-224869000	Weak transcription	Dnd41	blood
15	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:224833400-224835200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:224833400-224835200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:224833400-224840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:224833600-224837600	Weak transcription	NHDF-Ad	bronchial
20	chr1:224833800-224835200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:224834600-224835600	Enhancers	Pancreas	Pancrea
22	chr1:224835000-224835400	Enhancers	Fetal Brain Male	brain
23	chr1:224835000-224835400	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:224835000-224836000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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