Variant report

Variant	rs57434625
Chromosome Location	chr5:126281078-126281079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126280423..126282190-chr5:126282430..126285139,2	K562	blood:
2	chr5:126248689..126250202-chr5:126280275..126282842,2	K562	blood:
3	chr5:126280326..126281923-chr5:126282670..126285139,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs61021974	1.00[AMR][1000 genomes]
rs61292941	1.00[AMR][1000 genomes]
rs61443321	1.00[AMR][1000 genomes]
rs6595748	1.00[AMR][1000 genomes]
rs6890333	1.00[AMR][1000 genomes]
rs73335432	1.00[AMR][1000 genomes]
rs73337224	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339266	1.00[AMR][1000 genomes]
rs73339276	1.00[AMR][1000 genomes]
rs73339287	1.00[AMR][1000 genomes]
rs73341204	1.00[AMR][1000 genomes]
rs9687587	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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:126264600-126283000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:126267200-126282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:126272400-126285200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:126272800-126282400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:126273000-126283400	Weak transcription	Pancreas	Pancrea
7	chr5:126273000-126285200	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:126275000-126282600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:126275000-126282600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:126275000-126299600	Weak transcription	HSMM	muscle
11	chr5:126275800-126286000	Weak transcription	HSMMtube	muscle
12	chr5:126276000-126282200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:126276200-126290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:126277600-126282800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:126277800-126282400	Weak transcription	Left Ventricle	heart
16	chr5:126277800-126282800	Weak transcription	Brain Anterior Caudate	brain
17	chr5:126278800-126287000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:126279000-126283000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:126279000-126283200	Weak transcription	Psoas Muscle	Psoas
20	chr5:126279000-126283200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:126279200-126282000	Weak transcription	Fetal Heart	heart
22	chr5:126279800-126287800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:126280600-126286200	Enhancers	Right Ventricle	heart
24	chr5:126280800-126281400	Enhancers	Right Atrium	heart
25	chr5:126280800-126281600	Strong transcription	K562	blood
26	chr5:126281000-126284200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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