Variant report

Variant	rs182625
Chromosome Location	chr5:96431672-96431673
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96425190..96428341-chr5:96429686..96433552,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10039917	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10043135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10071737	0.92[ASN][1000 genomes]
rs1035507	0.94[ASN][1000 genomes]
rs10463198	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs11954059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958159	0.85[CEU][hapmap]
rs12520374	0.90[ASN][1000 genomes]
rs13167790	0.91[ASN][1000 genomes]
rs2287903	0.94[ASN][1000 genomes]
rs2544769	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2544776	0.85[ASN][1000 genomes]
rs316178	0.92[ASN][1000 genomes]
rs316190	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316202	0.90[ASN][1000 genomes]
rs316203	0.91[ASN][1000 genomes]
rs316204	0.91[ASN][1000 genomes]
rs316205	0.91[ASN][1000 genomes]
rs316209	0.83[JPT][hapmap]
rs316213	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs316217	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316218	0.93[ASN][1000 genomes]
rs316219	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs316222	0.87[AMR][1000 genomes]
rs316223	0.84[ASN][1000 genomes]
rs316224	0.87[ASN][1000 genomes]
rs316232	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316233	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389536	0.85[ASN][1000 genomes]
rs392723	0.82[ASN][1000 genomes]
rs444243	0.93[ASN][1000 genomes]
rs6556945	0.88[ASN][1000 genomes]
rs7717829	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96425200-96437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:96426400-96437200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr5:96428200-96432600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:96428400-96440000	Weak transcription	K562	blood
5	chr5:96429000-96432000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:96430000-96434600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:96430200-96432800	Strong transcription	Primary B cells from cord blood	blood
8	chr5:96430600-96432200	Flanking Active TSS	GM12878-XiMat	blood
9	chr5:96430600-96438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:96430800-96434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:96430800-96438200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:96431000-96431800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:96431000-96432000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:96431000-96432200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:96431200-96432000	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:96431200-96432200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:96431200-96433600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:96431400-96432400	Weak transcription	Brain Substantia Nigra	brain
19	chr5:96431400-96433000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:96431400-96433000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:96431600-96432200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:96431600-96432200	Enhancers	Fetal Lung	lung
23	chr5:96431600-96432800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:96431600-96433000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:96431600-96433800	Enhancers	HUES64 Cell Line	embryonic stem cell

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