Variant report

Variant	rs10857620
Chromosome Location	chr10:49908345-49908346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49907771..49909890-chr10:49911982..49914593,2	K562	blood:
2	chr10:49906264..49908604-chr10:49911628..49913491,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10458721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857619	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857621	0.85[ASN][1000 genomes]
rs10857622	0.81[ASN][1000 genomes]
rs10857623	0.80[ASN][1000 genomes]
rs11101430	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101431	0.85[ASN][1000 genomes]
rs12768309	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs12783753	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2889687	0.81[ASN][1000 genomes]
rs7897333	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7911189	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7922132	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1049259	chr10:49901984-49924310	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10857620	MARCH8	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49897000-49918200	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr10:49900200-49908600	Weak transcription	Colonic Mucosa	Colon
3	chr10:49900800-49908800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:49903800-49911400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:49904200-49909600	Genic enhancers	GM12878-XiMat	blood
6	chr10:49906000-49909000	Enhancers	Fetal Thymus	thymus
7	chr10:49906600-49910000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr10:49906800-49909800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:49907000-49909400	Genic enhancers	Primary B cells from cord blood	blood
10	chr10:49907200-49910200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:49907400-49917800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:49907600-49908600	Enhancers	Primary hematopoietic stem cells	blood
13	chr10:49907600-49909000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:49907600-49909200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:49907600-49911800	Weak transcription	Left Ventricle	heart
16	chr10:49907600-49912200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:49907800-49910000	Weak transcription	Fetal Heart	heart
18	chr10:49907800-49910800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:49907800-49912000	Weak transcription	Right Ventricle	heart
20	chr10:49908200-49909200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr10:49908200-49911000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr10:49908200-49922800	Weak transcription	Spleen	Spleen

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