Variant report

Variant	rs10939893
Chromosome Location	chr5:60564573-60564574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60555601..60558433-chr5:60563419..60566177,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10037643	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10052765	0.95[ASN][1000 genomes]
rs10062338	0.95[ASN][1000 genomes]
rs10065444	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071763	0.96[ASN][1000 genomes]
rs10434526	1.00[ASN][1000 genomes]
rs10461467	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10471510	0.99[ASN][1000 genomes]
rs10939888	0.96[ASN][1000 genomes]
rs10939890	0.96[ASN][1000 genomes]
rs10939892	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189426	0.96[ASN][1000 genomes]
rs12518152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12523278	0.83[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs12696979	0.95[ASN][1000 genomes]
rs12696980	0.96[ASN][1000 genomes]
rs13175564	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34439016	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35310874	1.00[ASN][1000 genomes]
rs4129437	0.82[ASN][1000 genomes]
rs4400074	1.00[ASN][1000 genomes]
rs4441832	1.00[ASN][1000 genomes]
rs4540126	0.96[ASN][1000 genomes]
rs4699974	0.95[ASN][1000 genomes]
rs4699975	0.95[ASN][1000 genomes]
rs6864367	0.95[ASN][1000 genomes]
rs6867268	0.99[ASN][1000 genomes]
rs6867417	0.93[ASN][1000 genomes]
rs6882613	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs6885499	0.95[ASN][1000 genomes]
rs6892128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7448844	0.95[ASN][1000 genomes]
rs7737448	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs9291718	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60556000-60570200	Weak transcription	HSMM	muscle
3	chr5:60558000-60566400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:60560000-60569200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:60560400-60569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:60560600-60569000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:60560800-60571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:60561000-60569000	Weak transcription	Brain Substantia Nigra	brain
9	chr5:60561000-60573200	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:60562000-60565400	Weak transcription	Stomach Mucosa	stomach
11	chr5:60563000-60567400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:60564000-60564600	Enhancers	Fetal Intestine Small	intestine
13	chr5:60564000-60566600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:60564200-60564800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:60564400-60564600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:60564400-60564600	Enhancers	Psoas Muscle	Psoas
17	chr5:60564400-60565000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:60564400-60565000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:60564400-60565000	Enhancers	HUVEC	blood vessel
20	chr5:60564400-60565600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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