Variant report

Variant	rs2510375
Chromosome Location	chr11:68400953-68400954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68399359..68401842-chr11:68855467..68857380,2	MCF-7	breast:
2	chr11:68400378..68400956-chr11:68855833..68856663,2	K562	blood:
3	chr11:68400417..68400956-chr11:68811436..68811940,2	MCF-7	breast:
4	chr11:68400009..68400995-chr11:68657393..68658012,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11228271	1.00[MEX][hapmap]
rs11228296	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11228302	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11228303	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11512724	0.84[ASN][1000 genomes]
rs11826602	0.84[ASN][1000 genomes]
rs12099005	0.82[ASN][1000 genomes]
rs12363572	0.86[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs2510372	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2510373	0.93[ASN][1000 genomes]
rs2510374	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2510389	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2510390	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2510391	0.82[ASN][1000 genomes]
rs2513292	0.84[ASN][1000 genomes]
rs2513300	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3018717	0.84[ASN][1000 genomes]
rs3018718	0.84[ASN][1000 genomes]
rs3781579	1.00[MEX][hapmap]
rs4564343	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7123591	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs73513239	0.82[ASN][1000 genomes]
rs948856	0.82[ASN][1000 genomes]
rs948858	0.82[ASN][1000 genomes]
rs948859	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv897864	chr11:68367007-68453429	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2510375	SPTBN2	cis	parietal	SCAN
rs2510375	CTD-2007L18.5	cis	Whole Blood	GTEx
rs2510375	FOSL1	cis	cerebellum	SCAN
rs2510375	SIPA1	cis	cerebellum	SCAN
rs2510375	SHANK2	cis	cerebellum	SCAN
rs2510375	C11orf85	cis	parietal	SCAN
rs2510375	GAL	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68400000-68401200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr11:68400200-68401000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:68400200-68401000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:68400200-68401200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:68400200-68401200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:68400800-68401000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:68400800-68401000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:68400800-68401200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:68400800-68402400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:68400800-68406200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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