Variant report

Variant	rs5010004
Chromosome Location	chr9:101053076-101053077
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100818995..100821317-chr9:101051621..101054241,2	K562	blood:
2	chr9:101049774..101053402-chr9:101054314..101056733,3	K562	blood:
3	chr9:101051613..101053576-chr9:101054948..101058206,3	K562	blood:

Variant related genes	Relation type
ENSG00000095380	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10115971	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10123643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10124977	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10760210	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10760216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10760218	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10818640	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10818662	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10818667	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10818672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10818676	0.94[JPT][hapmap]
rs10818678	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10818692	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10818693	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10818739	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10818743	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10985517	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10985641	0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs10985642	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10985653	0.84[ASN][1000 genomes]
rs10985669	0.84[ASN][1000 genomes]
rs10985680	0.84[ASN][1000 genomes]
rs10985689	0.84[ASN][1000 genomes]
rs10985711	0.84[ASN][1000 genomes]
rs10985720	0.84[ASN][1000 genomes]
rs10985743	0.87[ASN][1000 genomes]
rs10985745	0.87[ASN][1000 genomes]
rs10985757	0.96[ASN][1000 genomes]
rs10985765	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10985772	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10985779	0.94[ASN][1000 genomes]
rs10985780	0.89[ASN][1000 genomes]
rs12237988	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1435253	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1435257	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1573025	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17766883	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17766913	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1935389	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4379551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4742721	0.84[ASN][1000 genomes]
rs4742722	0.84[ASN][1000 genomes]
rs4743187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4743188	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4743194	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs56262782	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62574288	0.84[ASN][1000 genomes]
rs62574300	0.84[ASN][1000 genomes]
rs6478631	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7042576	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7045158	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7853442	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7853847	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7859655	0.84[ASN][1000 genomes]
rs7868451	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7874856	0.84[ASN][1000 genomes]
rs879368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs879369	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9696283	0.95[ASN][1000 genomes]
rs9802650	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831664	chr9:101024862-101205637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv519818	chr9:101024887-101092316	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101049000-101062800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:101049400-101053800	Weak transcription	Brain Germinal Matrix	brain
3	chr9:101049800-101060600	Weak transcription	Brain Angular Gyrus	brain
4	chr9:101050000-101053600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:101050000-101054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:101050400-101055400	Enhancers	Placenta	Placenta
7	chr9:101050600-101064600	Weak transcription	Fetal Brain Female	brain
8	chr9:101051200-101055400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:101051800-101053800	Weak transcription	K562	blood
10	chr9:101052400-101053800	Weak transcription	Fetal Intestine Large	intestine
11	chr9:101052400-101054000	Weak transcription	Fetal Intestine Small	intestine
12	chr9:101052400-101054200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:101052400-101054600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:101052400-101065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:101052800-101054200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:101053000-101056000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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