Variant report

Variant	rs1871603
Chromosome Location	chr10:49999386-49999387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49998728..50000919-chr10:50001573..50004326,2	K562	blood:
2	chr10:49998728..50000670-chr10:50000841..50003073,2	K562	blood:
3	chr10:49997425..50000920-chr10:50010658..50015147,8	MCF-7	breast:
4	chr10:49998728..50000233-chr10:50020617..50022326,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128815	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10776645	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2448543	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2663037	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928390	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928391	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928392	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];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	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	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1871603	MAPK8	cis	Artery Aorta	GTEx
rs1871603	METTL7A	trans	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49967600-50000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:49981400-50007200	Strong transcription	Primary B cells from cord blood	blood
4	chr10:49982400-50000800	Weak transcription	Fetal Thymus	thymus
5	chr10:49982600-50006800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:49985600-49999800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:49992600-49999800	Weak transcription	Small Intestine	intestine
8	chr10:49992800-50005200	Strong transcription	Primary hematopoietic stem cells	blood
9	chr10:49993400-50002200	Strong transcription	GM12878-XiMat	blood
10	chr10:49993600-50001000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:49993800-50005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:49995400-50000000	Weak transcription	Colonic Mucosa	Colon
13	chr10:49996200-50000200	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:49996600-50005400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:49997200-49999600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
16	chr10:49997600-50000600	Strong transcription	Spleen	Spleen
17	chr10:49998200-49999600	Weak transcription	Fetal Lung	lung
18	chr10:49998800-49999600	Weak transcription	Esophagus	oesophagus
19	chr10:49998800-50000200	Weak transcription	Adipose Nuclei	Adipose
20	chr10:49999000-50000400	Enhancers	Lung	lung
21	chr10:49999200-50000200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr10:49999200-50005600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr10:49999200-50006200	Strong transcription	Primary monocytes fromperipheralblood	blood

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