Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58618629..58620597-chr5:58633400..58635092,2	K562	blood:

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

rs_ID	r²[population]
rs154031	0.84[AFR][1000 genomes]
rs2441091	1.00[YRI][hapmap]
rs244573	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs244574	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs244575	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs244577	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs244579	1.00[YRI][hapmap]
rs244588	1.00[YRI][hapmap]
rs35258	0.87[ASW][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs35261	0.80[CHB][hapmap]
rs35263	0.95[EUR][1000 genomes]
rs35267	0.82[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs35274	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35276	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs35277	0.92[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35278	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs35279	0.86[AFR][1000 genomes]
rs35284	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs39672	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs40122	0.85[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs40126	0.92[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs40328	RAB3C	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58625000-58644600	Weak transcription	Left Ventricle	heart
2	chr5:58627200-58634400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58627400-58641600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:58631000-58633600	Enhancers	Brain Substantia Nigra	brain
5	chr5:58631000-58635800	Enhancers	A549	lung
6	chr5:58631000-58636000	Enhancers	Fetal Heart	heart
7	chr5:58631200-58634600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:58632400-58633600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:58632400-58634600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:58632600-58633600	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:58632800-58633600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:58632800-58634000	Weak transcription	Psoas Muscle	Psoas
13	chr5:58633400-58633600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:58633400-58633800	Enhancers	Primary B cells from cord blood	blood
15	chr5:58633400-58634200	Enhancers	Colon Smooth Muscle	Colon

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