Variant report

Variant	rs444243
Chromosome Location	chr5:96467756-96467757
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96461333..96463342-chr5:96466148..96468249,2	K562	blood:
2	chr5:96360377..96362346-chr5:96465459..96468207,2	MCF-7	breast:
3	chr5:96414990..96416706-chr5:96466146..96468878,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10039917	0.98[ASN][1000 genomes]
rs10043135	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10071737	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1035507	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463198	0.85[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap]
rs11954059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12520374	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13167790	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182625	0.93[ASN][1000 genomes]
rs2287903	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544769	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2544776	0.81[ASN][1000 genomes]
rs316178	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316190	0.97[ASN][1000 genomes]
rs316201	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316202	0.92[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316203	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316204	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316205	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316207	0.89[CHD][hapmap]
rs316209	0.89[CHD][hapmap];0.84[JPT][hapmap]
rs316213	0.85[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap]
rs316217	0.98[ASN][1000 genomes]
rs316218	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs316219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316223	0.82[ASN][1000 genomes]
rs316224	0.83[ASN][1000 genomes]
rs316232	0.93[ASN][1000 genomes]
rs316233	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs316234	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs389536	0.81[ASN][1000 genomes]
rs6556945	0.82[ASN][1000 genomes]
rs7717829	0.98[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	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
4	nsv830413	chr5:96450582-96509294	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96455400-96491800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:96456400-96478000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:96459800-96491800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:96461400-96470200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:96461600-96470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:96461600-96470400	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:96463600-96471600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:96465800-96467800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:96466200-96468600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:96466200-96470000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:96466200-96470200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:96466400-96470200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:96466600-96469200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:96467000-96467800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:96467200-96474000	Weak transcription	Brain Anterior Caudate	brain
16	chr5:96467400-96467800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:96467400-96471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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