Variant report

Variant	rs2837101
Chromosome Location	chr21:40997665-40997666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr21:40997393-40997774	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40996081..40997665-chr21:41007719..41010379,2	MCF-7	breast:
2	chr21:40994535..40996847-chr21:40997303..41000017,2	K562	blood:

Variant related genes	Relation type
ENSG00000225330	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs512384	0.80[YRI][hapmap]
rs602006	0.89[ASW][hapmap];0.86[CEU][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2837101	TMPRSS2	cis	parietal	SCAN
rs2837101	BRWD1	cis	parietal	SCAN
rs2837101	HEBP2	trans	cerebellum	SCAN
rs2837101	SIM2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40985600-41002400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:40985600-41008400	Weak transcription	Pancreas	Pancrea
3	chr21:40986000-41004200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:40987000-40999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:40989400-40999000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:40989600-41004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr21:40990200-41008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:40990400-40998800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:40991400-41002400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:40995800-41009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:40996800-40997800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr21:40996800-40999400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr21:40997000-40997800	Enhancers	Duodenum Mucosa	Duodenum
14	chr21:40997000-40997800	Enhancers	Fetal Intestine Large	intestine
15	chr21:40997000-40998000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr21:40997200-40998400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:40997400-40998200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:40997400-40998800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr21:40997400-40998800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:40997600-40997800	Enhancers	Fetal Intestine Small	intestine
21	chr21:40997600-40998400	Enhancers	Stomach Mucosa	stomach
22	chr21:40997600-41002200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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