Variant report

Variant	rs1967084
Chromosome Location	chr1:151993088-151993089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
2	chr1:151986485..151988607-chr1:151992304..151995986,3	K562	blood:

Variant related genes	Relation type
ENSG00000229021	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11204923	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1387834	0.84[ASN][1000 genomes]
rs1387835	0.81[ASN][1000 genomes]
rs1473493	0.84[ASN][1000 genomes]
rs1473495	0.84[ASN][1000 genomes]
rs1490188	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532132	0.84[ASN][1000 genomes]
rs1552607	0.84[ASN][1000 genomes]
rs1602252	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1602254	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873311	0.84[ASN][1000 genomes]
rs1967085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979638	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2338018	0.84[ASN][1000 genomes]
rs2932567	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932572	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2932588	0.84[ASN][1000 genomes]
rs2932591	0.84[ASN][1000 genomes]
rs2932592	0.84[ASN][1000 genomes]
rs2932595	0.84[ASN][1000 genomes]
rs2932596	0.84[ASN][1000 genomes]
rs2932597	0.84[ASN][1000 genomes]
rs2999514	0.84[ASN][1000 genomes]
rs2999515	0.84[ASN][1000 genomes]
rs2999518	0.84[ASN][1000 genomes]
rs2999520	0.84[ASN][1000 genomes]
rs2999522	0.84[ASN][1000 genomes]
rs2999524	0.84[ASN][1000 genomes]
rs2999525	0.84[ASN][1000 genomes]
rs2999527	0.84[ASN][1000 genomes]
rs2999529	0.84[ASN][1000 genomes]
rs2999535	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2999536	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2999537	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2999538	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2999558	1.00[ASN][1000 genomes]
rs3007701	0.84[ASN][1000 genomes]
rs3007713	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3007714	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587641	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704157	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882099	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs882100	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959945	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs994974	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv946389	chr1:151987731-151995842	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1967084	LOC729659///LOC730278	trans	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151976800-151993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151986600-151996200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:151986800-152007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:151988600-152002600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:151988600-152004000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:151989800-151994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:151989800-151994000	Weak transcription	HMEC	breast
8	chr1:151989800-151994400	Weak transcription	NHEK	skin
9	chr1:151989800-151994800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:151990000-151993200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:151992400-151993400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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