Variant report

Variant	rs315544
Chromosome Location	chr1:84835872-84835873
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84835769..84836289-chr16:146667..147215,2	MCF-7	breast:
2	chr1:84834141..84835900-chr1:84937184..84939105,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12034653	0.81[AMR][1000 genomes]
rs1246550	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1690702	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170278	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172735	0.81[CHB][hapmap]
rs178367	0.81[CHB][hapmap]
rs178368	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315520	0.82[JPT][hapmap];0.90[AMR][1000 genomes]
rs315521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315525	0.81[CHB][hapmap]
rs315526	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315527	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs315530	0.81[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315531	0.81[CHB][hapmap]
rs315536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315541	0.94[ASN][1000 genomes]
rs315542	0.94[ASN][1000 genomes]
rs315543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315549	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315552	0.81[CHB][hapmap]
rs315553	0.81[CHB][hapmap]
rs315555	0.81[CHB][hapmap]
rs316660	0.81[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316661	0.81[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316663	0.81[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316665	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs487220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575277	1.00[ASN][1000 genomes]
rs592464	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642774	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84828400-84836400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84829800-84836800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:84829800-84840400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:84831000-84838000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:84831200-84836400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:84832000-84838600	Weak transcription	Psoas Muscle	Psoas
7	chr1:84832400-84836600	Weak transcription	HSMMtube	muscle
8	chr1:84832600-84842800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:84832800-84836600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:84833000-84836400	Weak transcription	HSMM	muscle
11	chr1:84833200-84836000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:84833200-84836400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:84833200-84836400	Weak transcription	Osteobl	bone
14	chr1:84833200-84842800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:84833600-84836000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:84833600-84839200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:84834800-84839200	Weak transcription	Fetal Heart	heart
18	chr1:84835400-84836000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:84835400-84836600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:84835400-84836600	Enhancers	Fetal Brain Male	brain
21	chr1:84835600-84836000	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:84835600-84836400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:84835800-84837400	Enhancers	NHDF-Ad	bronchial
24	chr1:84835800-84837800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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