Variant report

Variant	rs1704376
Chromosome Location	chr15:42310953-42310954
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42294519..42296729-chr15:42308875..42311761,2	K562	blood:
2	chr15:42296975..42299323-chr15:42309819..42311922,2	MCF-7	breast:
3	chr15:42295229..42297667-chr15:42310261..42312027,2	K562	blood:

Variant related genes	Relation type
ENSG00000257797	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11629515	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs11633848	0.89[EUR][1000 genomes]
rs11634009	0.89[EUR][1000 genomes]
rs11638234	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12901016	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1622221	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs1622949	0.81[CEU][hapmap]
rs1668555	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1668556	0.92[ASN][1000 genomes]
rs1668557	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1668560	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668561	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1668562	0.82[CEU][hapmap]
rs1668567	0.92[ASN][1000 genomes]
rs1668580	0.90[ASN][1000 genomes]
rs1668581	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1668582	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1668583	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1668584	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1704353	0.92[ASN][1000 genomes]
rs1704359	0.92[ASN][1000 genomes]
rs1704362	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1704366	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1704367	0.92[ASN][1000 genomes]
rs1704370	0.82[CEU][hapmap]
rs1704373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823552	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2598465	0.97[ASN][1000 genomes]
rs2598466	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2598467	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2665200	0.92[ASN][1000 genomes]
rs2665202	0.97[ASN][1000 genomes]
rs2665203	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2665205	0.84[EUR][1000 genomes]
rs2665207	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2665210	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2665211	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2724935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2724937	0.95[ASN][1000 genomes]
rs2724939	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724940	0.95[ASN][1000 genomes]
rs2724941	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2724942	0.84[EUR][1000 genomes]
rs2724944	0.94[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2724945	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34595238	0.92[ASN][1000 genomes]
rs35670495	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55638864	0.91[EUR][1000 genomes]
rs56171410	0.91[EUR][1000 genomes]
rs62004270	0.92[ASN][1000 genomes]
rs937991	0.82[ASN][1000 genomes]
rs937992	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs937993	0.92[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42305400-42312800	Weak transcription	Esophagus	oesophagus
2	chr15:42305600-42312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:42307200-42313200	Weak transcription	Lung	lung
4	chr15:42309000-42312800	Enhancers	Fetal Muscle Leg	muscle
5	chr15:42309400-42312800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr15:42309800-42311800	Enhancers	Fetal Lung	lung
7	chr15:42310200-42311800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:42310200-42311800	Enhancers	Placenta	Placenta
9	chr15:42310200-42312000	Enhancers	Fetal Heart	heart
10	chr15:42310400-42311400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr15:42310400-42312000	Enhancers	Psoas Muscle	Psoas
12	chr15:42310400-42312000	Enhancers	Right Atrium	heart
13	chr15:42310600-42311400	Enhancers	Gastric	stomach
14	chr15:42310600-42312000	Enhancers	Fetal Muscle Trunk	muscle
15	chr15:42310600-42312400	Enhancers	Right Ventricle	heart
16	chr15:42310800-42311000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:42310800-42311000	Weak transcription	Spleen	Spleen
18	chr15:42310800-42311600	Enhancers	Fetal Stomach	stomach
19	chr15:42310800-42312400	Enhancers	Left Ventricle	heart

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