Variant report

Variant	rs2724944
Chromosome Location	chr15:42321879-42321880
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	chr15:42318244..42322022-chr15:42323761..42326594,4	K562	blood:
2	chr15:42321125..42324302-chr15:42342047..42344637,3	K562	blood:

Variant related genes	Relation type
ENSG00000188089	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11629515	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11633848	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11634009	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11638234	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11857594	1.00[YRI][hapmap]
rs12901016	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12904287	0.81[ASN][1000 genomes]
rs12914009	0.86[ASN][1000 genomes]
rs1622221	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1622949	0.87[CEU][hapmap]
rs1668555	1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1668556	0.80[ASN][1000 genomes]
rs1668557	1.00[JPT][hapmap]
rs1668560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1668561	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1668562	0.88[CEU][hapmap]
rs1668567	0.80[ASN][1000 genomes]
rs1668581	1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1668582	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1668583	1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1668584	1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1704353	0.80[ASN][1000 genomes]
rs1704359	0.80[ASN][1000 genomes]
rs1704362	1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1704366	1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1704367	0.80[ASN][1000 genomes]
rs1704370	0.88[CEU][hapmap]
rs1704373	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1704376	0.94[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1823552	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2598465	0.90[ASN][1000 genomes]
rs2598466	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2598467	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665200	0.80[ASN][1000 genomes]
rs2665202	0.90[ASN][1000 genomes]
rs2665203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2665205	0.84[EUR][1000 genomes]
rs2665207	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665210	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665211	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724935	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2724937	0.92[ASN][1000 genomes]
rs2724939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724940	0.92[ASN][1000 genomes]
rs2724941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2724942	0.84[EUR][1000 genomes]
rs2724945	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34595238	0.80[ASN][1000 genomes]
rs35670495	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55638864	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56171410	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62004270	0.80[ASN][1000 genomes]
rs7166079	0.81[ASN][1000 genomes]
rs7177034	1.00[YRI][hapmap]
rs7181618	0.86[ASN][1000 genomes]
rs937991	1.00[YRI][hapmap]
rs937992	1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs937993	0.80[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	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv569235	chr15:42304628-42326259	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42314000-42322400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:42317000-42322400	Weak transcription	Esophagus	oesophagus
3	chr15:42317800-42322000	Weak transcription	NHEK	skin
4	chr15:42320000-42324000	Weak transcription	Psoas Muscle	Psoas
5	chr15:42320400-42327200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:42320600-42323600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:42321800-42322000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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