Variant report

Variant	rs2823244
Chromosome Location	chr21:16739368-16739369
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	chr21:16737684..16740114-chr21:16747406..16749944,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10211859	0.83[EUR][1000 genomes]
rs11088369	0.84[ASN][1000 genomes]
rs12482683	0.81[ASN][1000 genomes]
rs12482774	0.81[ASN][1000 genomes]
rs12482907	0.81[ASN][1000 genomes]
rs12626331	0.84[ASN][1000 genomes]
rs12626910	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12626957	1.00[JPT][hapmap]
rs16982373	0.81[ASN][1000 genomes]
rs16982386	0.81[ASN][1000 genomes]
rs17241270	0.88[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs2049835	0.83[EUR][1000 genomes]
rs2049882	0.83[EUR][1000 genomes]
rs2091947	0.88[EUR][1000 genomes]
rs2823234	0.88[EUR][1000 genomes]
rs2823235	0.83[EUR][1000 genomes]
rs2823236	0.83[EUR][1000 genomes]
rs2823237	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2823238	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2823239	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2823240	0.84[ASN][1000 genomes]
rs2823241	0.84[ASN][1000 genomes]
rs2823242	0.85[EUR][1000 genomes]
rs2823243	0.84[ASN][1000 genomes]
rs28478640	0.81[EUR][1000 genomes]
rs61096028	0.81[ASN][1000 genomes]
rs6517365	0.91[EUR][1000 genomes]
rs6517383	0.83[EUR][1000 genomes]
rs7278751	0.83[EUR][1000 genomes]
rs7279326	0.92[EUR][1000 genomes]
rs7280494	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7281880	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs8128176	0.83[EUR][1000 genomes]
rs9981613	0.87[EUR][1000 genomes]
rs9982882	0.81[EUR][1000 genomes]
rs9982903	0.83[EUR][1000 genomes]
rs9983155	0.88[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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2823244	TMPRSS15	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16738000-16739800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:16738400-16739600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:16738600-16739400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:16738600-16739400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:16738600-16739400	Weak transcription	Psoas Muscle	Psoas
6	chr21:16738600-16747600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr21:16738800-16739400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:16738800-16739600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:16738800-16740000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr21:16738800-16740000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:16738800-16740000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:16739000-16739400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr21:16739000-16739400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr21:16739000-16740000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr21:16739200-16739400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr21:16739200-16739400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr21:16739200-16739400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr21:16739200-16739600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:16739200-16740400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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