Variant report

Variant	rs2836885
Chromosome Location	chr21:40470548-40470549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40179807..40182611-chr21:40469616..40471472,2	MCF-7	breast:
2	chr21:40468459..40471271-chr21:40472238..40474506,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17231059	1.00[ASN][1000 genomes]
rs2836901	1.00[ASW][hapmap]
rs2836939	1.00[ASN][1000 genomes]
rs34160989	1.00[ASN][1000 genomes]
rs34304022	1.00[ASN][1000 genomes]
rs73215562	1.00[ASN][1000 genomes]
rs73215563	1.00[ASN][1000 genomes]
rs73222852	1.00[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	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2836885	PRDM15	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40455600-40475600	Weak transcription	Colonic Mucosa	Colon
2	chr21:40461400-40471000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr21:40461800-40471800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:40464800-40470800	Enhancers	Placenta	Placenta
5	chr21:40465000-40470600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr21:40465400-40471000	Enhancers	Spleen	Spleen
7	chr21:40465400-40472000	Enhancers	HepG2	liver
8	chr21:40466400-40471000	Enhancers	Fetal Muscle Leg	muscle
9	chr21:40467600-40470600	Enhancers	Fetal Muscle Trunk	muscle
10	chr21:40467800-40470600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr21:40467800-40475600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr21:40468000-40470600	Enhancers	Lung	lung
13	chr21:40468000-40470800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:40468000-40477000	Weak transcription	Psoas Muscle	Psoas
15	chr21:40468200-40470800	Weak transcription	HUVEC	blood vessel
16	chr21:40468800-40470600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr21:40468800-40470800	Enhancers	Fetal Heart	heart
18	chr21:40468800-40470800	Enhancers	Right Atrium	heart
19	chr21:40469000-40470600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr21:40469200-40471600	Enhancers	Fetal Intestine Large	intestine
21	chr21:40469200-40471800	Enhancers	Fetal Stomach	stomach
22	chr21:40469400-40470800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr21:40469400-40471000	Enhancers	Fetal Intestine Small	intestine
24	chr21:40469400-40471400	Enhancers	Fetal Lung	lung
25	chr21:40469600-40470800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:40469600-40470800	Enhancers	Fetal Kidney	kidney
27	chr21:40469600-40471000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:40470000-40471000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:40470200-40470800	Enhancers	Stomach Smooth Muscle	stomach
30	chr21:40470200-40473600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr21:40470200-40475600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr21:40470400-40470600	Enhancers	Esophagus	oesophagus
33	chr21:40470400-40470800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr21:40470400-40471200	Enhancers	Liver	Liver
35	chr21:40470400-40480600	Weak transcription	Right Ventricle	heart

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