Variant report

Variant	rs530022
Chromosome Location	chr1:168675971-168675972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168674549..168676418-chr1:169074810..169077657,3	MCF-7	breast:
2	chr1:168675092..168677492-chr1:168677685..168680071,3	MCF-7	breast:
3	chr1:168674465..168676226-chr1:168704172..168705737,2	K562	blood:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs494317	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520084	0.98[ASN][1000 genomes]
rs523582	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs524705	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs531953	0.83[ASN][1000 genomes]
rs544013	0.82[JPT][hapmap]
rs580360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs586318	0.83[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs597584	0.81[ASN][1000 genomes]
rs598416	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59849641	0.99[ASN][1000 genomes]
rs604627	0.83[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs606012	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs627098	0.83[ASN][1000 genomes]
rs627406	0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs630159	0.88[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631451	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs643055	0.82[ASN][1000 genomes]
rs664879	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs682367	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168665600-168677600	Weak transcription	Fetal Heart	heart
2	chr1:168666000-168679000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:168670600-168677800	Weak transcription	Small Intestine	intestine
4	chr1:168671400-168677600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:168673800-168678800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:168675200-168676400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:168675400-168676200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:168675400-168676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:168675400-168676400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:168675400-168676400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:168675400-168676400	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:168675400-168676800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:168675600-168676200	Enhancers	Fetal Stomach	stomach
14	chr1:168675800-168676000	Enhancers	HSMM	muscle
15	chr1:168675800-168676200	Enhancers	Right Atrium	heart
16	chr1:168675800-168676400	Enhancers	Ovary	ovary
17	chr1:168675800-168676600	Enhancers	Adipose Nuclei	Adipose
18	chr1:168675800-168676600	Enhancers	Rectal Smooth Muscle	rectum

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