Variant report

Variant	rs17130873
Chromosome Location	chr1:84562324-84562325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84553847..84557736-chr1:84560723..84565476,4	K562	blood:
2	chr1:84549529..84551692-chr1:84562263..84565321,3	K562	blood:
3	chr1:84554743..84559247-chr1:84561300..84565476,7	K562	blood:

Variant related genes	Relation type
ENSG00000213540	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11163870	0.82[ASN][1000 genomes]
rs12094835	0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12129674	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12563929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1521519	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17475438	0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs34654680	0.98[ASN][1000 genomes]
rs34880060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34972329	0.98[ASN][1000 genomes]
rs35000319	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs35105659	0.98[ASN][1000 genomes]
rs35760860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35960022	0.98[ASN][1000 genomes]
rs36173422	0.81[ASN][1000 genomes]
rs41300540	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57443421	0.82[ASN][1000 genomes]
rs60455471	0.86[ASN][1000 genomes]
rs61360062	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61766872	0.82[ASN][1000 genomes]
rs6699590	0.86[ASN][1000 genomes]
rs71652665	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721436	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84545000-84566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:84545000-84570000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:84545200-84568600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:84545800-84568600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:84552200-84569000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:84555400-84568400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:84556400-84568400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:84556400-84568400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:84556400-84568400	Weak transcription	A549	lung
10	chr1:84556400-84568400	Weak transcription	HSMM	muscle
11	chr1:84556400-84569000	Weak transcription	Left Ventricle	heart
12	chr1:84556600-84566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:84556600-84566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:84556600-84568600	Weak transcription	Brain Substantia Nigra	brain
15	chr1:84561000-84568600	Weak transcription	Fetal Lung	lung
16	chr1:84562000-84562600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:84562200-84568800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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