Variant report

Variant	rs11654473
Chromosome Location	chr17:38163481-38163482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38163425..38164990-chr17:38181378..38183751,2	K562	blood:

Variant related genes	Relation type
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11078932	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11555254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11555255	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2227316	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227325	1.00[ASN][1000 genomes]
rs2827	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36006659	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3859188	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs58212353	0.98[EUR][1000 genomes]
rs6503529	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217241	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217694	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222093	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7222556	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7224260	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225565	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068076	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8073732	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080546	0.98[EUR][1000 genomes]
rs9894543	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912981	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9913535	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9916279	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv908220	chr17:38153473-38175426	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11654473	MED24	cis	Muscle Skeletal	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38153200-38166400	Weak transcription	Fetal Lung	lung
2	chr17:38153400-38166200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:38153400-38166600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:38153800-38166200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr17:38153800-38166200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:38153800-38172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:38154200-38166400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr17:38154400-38166200	Weak transcription	Dnd41	blood
9	chr17:38154400-38166400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:38154600-38166200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr17:38154600-38166400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:38154600-38170000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:38154600-38170200	Weak transcription	Esophagus	oesophagus
14	chr17:38154800-38173600	Weak transcription	Thymus	Thymus
15	chr17:38155000-38166200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:38155000-38166400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr17:38155000-38170000	Weak transcription	HSMM	muscle
18	chr17:38155000-38173600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:38155000-38174000	Weak transcription	Fetal Brain Female	brain
20	chr17:38155400-38170200	Weak transcription	Placenta	Placenta
21	chr17:38155600-38164200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr17:38155600-38166600	Weak transcription	Fetal Thymus	thymus
23	chr17:38155600-38169600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:38155600-38169800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:38155800-38171800	Weak transcription	Spleen	Spleen
26	chr17:38161000-38166400	Weak transcription	Stomach Mucosa	stomach
27	chr17:38162600-38164200	Weak transcription	K562	blood

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