Variant report

Variant	rs2624438
Chromosome Location	chr1:93944741-93944742
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	chr1:93944402..93947140-chr1:93966785..93968486,2	K562	blood:
2	chr1:93944108..93946420-chr1:93963854..93966573,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1593513	0.82[ASN][1000 genomes]
rs1593514	0.82[ASN][1000 genomes]
rs1593515	0.82[ASN][1000 genomes]
rs1863500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs237424	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs237426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs237427	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs237428	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs237429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs237430	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2449377	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2493642	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2493643	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs2554841	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818968	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4475764	0.82[ASN][1000 genomes]
rs57438388	1.00[ASN][1000 genomes]
rs57440609	0.82[ASN][1000 genomes]
rs57453256	0.82[ASN][1000 genomes]
rs57974365	0.80[ASN][1000 genomes]
rs58212333	0.88[ASN][1000 genomes]
rs58430978	1.00[ASN][1000 genomes]
rs58591926	0.82[ASN][1000 genomes]
rs59039419	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60515224	0.88[ASN][1000 genomes]
rs60717381	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61096581	0.82[ASN][1000 genomes]
rs61231069	0.82[ASN][1000 genomes]
rs6657187	0.82[ASN][1000 genomes]
rs72961357	0.88[ASN][1000 genomes]
rs72961366	0.88[ASN][1000 genomes]
rs72961373	1.00[ASN][1000 genomes]
rs72961379	1.00[ASN][1000 genomes]
rs72961386	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72961389	1.00[ASN][1000 genomes]
rs7547495	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7554661	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93929000-93946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:93937600-93954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:93939600-93946000	Weak transcription	Left Ventricle	heart
4	chr1:93941200-93947400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:93943200-93974400	Weak transcription	Fetal Lung	lung
6	chr1:93943600-93946800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:93943800-93944800	ZNF genes & repeats	HepG2	liver
8	chr1:93943800-93945400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr1:93944000-93974600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:93944200-93945000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:93944200-93947400	Weak transcription	Gastric	stomach
12	chr1:93944200-93952200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:93944200-93954800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:93944200-93971800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:93944200-93974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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