Variant report

Variant	rs7110260
Chromosome Location	chr11:71956583-71956584
allele	C/T
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	SUZ12	chr11:71955761-71956882	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr11:71953931-71956605	SK-N-SH	brain:	n/a	n/a
3	E2F6	chr11:71955866-71956612	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr11:71953915-71957050	SK-N-SH	brain:	n/a	chr11:71956843-71956856
5	CTBP2	chr11:71955388-71956913	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71951601..71953593-chr11:71954198..71956638,2	K562	blood:
2	chr11:71948375..71952014-chr11:71952052..71958381,8	MCF-7	breast:

Variant related genes	Relation type
PHOX2A	TF binding region
ENSG00000165462	Chromatin interaction
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11548491	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12416741	1.00[CHB][hapmap]
rs12418533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[ASN][1000 genomes]
rs1784257	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2276046	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2508201	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.85[ASN][1000 genomes]
rs2508865	1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.85[ASN][1000 genomes]
rs3750906	0.84[GIH][hapmap]
rs3900852	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs472837	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs477354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs487288	1.00[CHB][hapmap]
rs504217	0.84[GIH][hapmap]
rs527905	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57614093	0.85[ASN][1000 genomes]
rs590732	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs59509230	0.81[ASN][1000 genomes]
rs59612321	0.85[ASN][1000 genomes]
rs59980097	0.81[ASN][1000 genomes]
rs61736312	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs70940824	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116854	0.85[ASN][1000 genomes]
rs7130652	0.85[ASN][1000 genomes]
rs73528886	0.85[ASN][1000 genomes]
rs7952074	1.00[CHB][hapmap]
rs9886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3326211	chr11:71953829-71956677	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71954000-71956800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:71954400-71956800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr11:71954400-71957000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:71954600-71956600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr11:71954600-71956800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:71954800-71956600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:71954800-71956800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:71954800-71956800	Bivalent Enhancer	Fetal Brain Male	brain
9	chr11:71955200-71956600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr11:71955400-71956600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:71955600-71956600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:71955800-71956800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr11:71955800-71956800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr11:71955800-71956800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr11:71955800-71956800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr11:71955800-71956800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:71956000-71956600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:71956000-71957000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr11:71956200-71956600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:71956200-71956800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:71956400-71956600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:71956400-71956600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:71956400-71956800	Bivalent Enhancer	Fetal Thymus	thymus

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