Variant report

Variant	rs487317
Chromosome Location	chr1:93480297-93480298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93458381..93461372-chr1:93479810..93482559,2	MCF-7	breast:
2	chr1:93408180..93410654-chr1:93478958..93480924,2	K562	blood:
3	chr1:93297396..93299866-chr1:93478286..93480481,2	K562	blood:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2928182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2992964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693562	1.00[AMR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93474200-93490600	Weak transcription	K562	blood
2	chr1:93478200-93481400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr1:93478200-93481600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:93478200-93482600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:93478800-93480400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:93478800-93480800	Enhancers	Psoas Muscle	Psoas
7	chr1:93478800-93482400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:93478800-93482400	Enhancers	HSMMtube	muscle
9	chr1:93479000-93480400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:93479000-93481400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:93479000-93482200	Enhancers	HSMM	muscle
12	chr1:93479200-93480800	Weak transcription	NHDF-Ad	bronchial
13	chr1:93479200-93481400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:93479600-93480400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:93479600-93480400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:93479600-93480600	Flanking Active TSS	GM12878-XiMat	blood
17	chr1:93479600-93481000	Enhancers	Fetal Thymus	thymus
18	chr1:93479600-93481400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:93479600-93482200	Enhancers	HUVEC	blood vessel
20	chr1:93479800-93481800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:93480000-93480600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:93480000-93481000	Weak transcription	Hela-S3	cervix
23	chr1:93480000-93481400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:93480000-93481800	Weak transcription	HepG2	liver
25	chr1:93480200-93480600	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:93480200-93480600	Enhancers	Thymus	Thymus
27	chr1:93480200-93481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:93480200-93481200	Weak transcription	Adipose Nuclei	Adipose
29	chr1:93480200-93481400	Enhancers	Osteobl	bone

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