Variant report

Variant	rs4559465
Chromosome Location	chr1:224679224-224679225
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	chr1:224677828..224680425-chr1:224681329..224683166,2	K562	blood:
2	chr1:224663142..224665952-chr1:224678882..224681699,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11809688	0.92[YRI][hapmap]
rs16847675	0.88[YRI][hapmap]
rs16847784	0.92[YRI][hapmap]
rs16847870	0.92[YRI][hapmap]
rs16847871	0.92[YRI][hapmap]
rs16848356	0.84[YRI][hapmap]
rs16848794	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1857042	0.88[YRI][hapmap]
rs59804672	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6681611	0.92[YRI][hapmap]
rs6687735	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6702649	0.88[YRI][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224677200-224680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224677200-224685000	Weak transcription	NHLF	lung
3	chr1:224677400-224680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:224677400-224681000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:224677600-224680400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:224677600-224682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:224677600-224683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224677800-224683400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:224677800-224684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:224677800-224684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:224677800-224685400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:224678000-224680000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:224678000-224680400	Weak transcription	NHDF-Ad	bronchial
14	chr1:224678000-224683000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:224678200-224680600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:224678200-224683200	Weak transcription	Osteobl	bone
17	chr1:224678800-224680400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:224678800-224682600	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:224679200-224679600	Weak transcription	Pancreas	Pancrea
20	chr1:224679200-224683400	Weak transcription	HSMM	muscle

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