Variant report

Variant	rs4112222
Chromosome Location	chr9:71975879-71975880
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	chr9:71968952..71970818-chr9:71974121..71976015,2	K562	blood:
2	chr9:71975450..71977804-chr9:71980766..71982423,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10115490	0.91[ASN][1000 genomes]
rs10118562	0.91[ASN][1000 genomes]
rs10746595	0.96[CEU][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes]
rs10746596	0.83[EUR][1000 genomes]
rs10780321	0.96[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs10780326	0.96[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs10780333	0.88[JPT][hapmap]
rs10780336	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.91[ASN][1000 genomes]
rs10867426	0.96[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs10867436	0.91[ASN][1000 genomes]
rs10867453	0.83[JPT][hapmap]
rs11138304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11138332	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11138334	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11138402	0.91[ASN][1000 genomes]
rs11138412	0.91[ASN][1000 genomes]
rs11138435	0.84[JPT][hapmap]
rs1334311	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs3829094	0.96[CEU][hapmap];0.84[JPT][hapmap]
rs3892193	0.82[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs4255205	0.82[EUR][1000 genomes]
rs4421413	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458929	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[YRI][hapmap];0.94[ASN][1000 genomes]
rs4492445	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.94[ASN][1000 genomes]
rs6559495	1.00[CEU][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes]
rs7024302	0.84[JPT][hapmap]
rs7034308	0.83[JPT][hapmap]
rs7035141	0.83[JPT][hapmap]
rs7851643	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859544	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870082	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71955400-71981800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:71962200-71994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:71962400-71978000	Weak transcription	Gastric	stomach
4	chr9:71963200-71991800	Weak transcription	Pancreas	Pancrea
5	chr9:71971800-71978000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:71972600-71978400	Weak transcription	Right Ventricle	heart
7	chr9:71972600-71980800	Weak transcription	Aorta	Aorta
8	chr9:71972600-71991800	Weak transcription	Right Atrium	heart
9	chr9:71972800-71991400	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:71973000-71986200	Weak transcription	Stomach Mucosa	stomach
11	chr9:71973200-71976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:71973200-71979600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:71973400-71976600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr9:71974000-71978000	Weak transcription	Left Ventricle	heart
15	chr9:71974400-71978000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:71974800-71977000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:71974800-71977600	Weak transcription	Psoas Muscle	Psoas
18	chr9:71974800-71981600	Enhancers	Fetal Heart	heart
19	chr9:71974800-71982000	Weak transcription	Ovary	ovary

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