Variant report

Variant	rs17509136
Chromosome Location	chr4:106479425-106479426
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	chr4:106479272..106480860-chr4:106482086..106483907,2	MCF-7	breast:
2	chr4:106479363..106481837-chr4:106485512..106487322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249885	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1017988	1.00[ASN][1000 genomes]
rs1077526	1.00[ASN][1000 genomes]
rs1126066	1.00[ASN][1000 genomes]
rs17035550	1.00[ASN][1000 genomes]
rs17035551	1.00[ASN][1000 genomes]
rs17035553	1.00[ASN][1000 genomes]
rs17035557	1.00[ASN][1000 genomes]
rs17035558	1.00[ASN][1000 genomes]
rs17035568	1.00[ASN][1000 genomes]
rs17035581	1.00[ASN][1000 genomes]
rs17035584	1.00[ASN][1000 genomes]
rs17035586	1.00[ASN][1000 genomes]
rs17035619	1.00[ASN][1000 genomes]
rs2004290	1.00[ASN][1000 genomes]
rs3898404	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs41438151	1.00[CHD][hapmap]
rs4499701	1.00[ASN][1000 genomes]
rs4519798	1.00[ASN][1000 genomes]
rs55652556	1.00[ASN][1000 genomes]
rs55755102	1.00[ASN][1000 genomes]
rs55874621	1.00[ASN][1000 genomes]
rs56397029	1.00[ASN][1000 genomes]
rs59902936	1.00[ASN][1000 genomes]
rs62317353	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533194	1.00[ASN][1000 genomes]
rs66517713	1.00[ASN][1000 genomes]
rs66763438	1.00[ASN][1000 genomes]
rs66932244	1.00[ASN][1000 genomes]
rs66956902	1.00[ASN][1000 genomes]
rs66988826	1.00[ASN][1000 genomes]
rs67248885	1.00[ASN][1000 genomes]
rs67476913	1.00[ASN][1000 genomes]
rs67554145	1.00[ASN][1000 genomes]
rs6811159	1.00[ASN][1000 genomes]
rs6829168	1.00[ASN][1000 genomes]
rs6856615	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs72668208	1.00[ASN][1000 genomes]
rs72668215	1.00[ASN][1000 genomes]
rs72668219	1.00[ASN][1000 genomes]
rs72668239	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1005011	chr4:106461690-106496019	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1013019	chr4:106461690-106501412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv524424	chr4:106466128-106491511	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv461610	chr4:106466128-106491511	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv595008	chr4:106466128-106491511	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv517837	chr4:106466588-106502513	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17509136	LOC285456	cis	parietal	SCAN
rs17509136	BANK1	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106476800-106480400	Weak transcription	Pancreas	Pancrea
2	chr4:106477200-106479600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr4:106477400-106480400	Enhancers	Fetal Intestine Small	intestine
4	chr4:106478000-106480400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:106478000-106480400	Weak transcription	Gastric	stomach
6	chr4:106478000-106483000	Enhancers	Fetal Intestine Large	intestine
7	chr4:106479200-106480200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:106479200-106480600	Enhancers	Stomach Mucosa	stomach
9	chr4:106479400-106479600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr4:106479400-106479600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:106479400-106479600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:106479400-106479600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:106479400-106480000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:106479400-106480600	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:106479400-106481400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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