Variant report

Variant	rs2715881
Chromosome Location	chr11:120126277-120126278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120125189..120127273-chr11:120164985..120166841,2	K562	blood:
2	chr11:120124373..120127178-chr11:120140443..120143184,2	MCF-7	breast:
3	chr11:120106000..120109277-chr11:120123883..120131527,10	K562	blood:
4	chr11:120124199..120127517-chr11:120128190..120131008,4	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10750169	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10892551	1.00[CHD][hapmap]
rs10892559	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11217817	1.00[CHB][hapmap]
rs12364701	1.00[CHB][hapmap]
rs1941406	0.84[EUR][1000 genomes]
rs1941411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2015914	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2096882	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2155808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2155809	1.00[CHB][hapmap]
rs2715883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2715888	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2847494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2847495	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap]
rs2847502	0.95[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7119027	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7484249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs753309	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882856	1.00[CHD][hapmap]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120121600-120126800	Weak transcription	Right Ventricle	heart
2	chr11:120123800-120127200	Weak transcription	Right Atrium	heart
3	chr11:120125000-120127400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr11:120125000-120127400	Enhancers	Fetal Brain Male	brain
5	chr11:120125600-120126600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr11:120125600-120126600	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr11:120125600-120126800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr11:120125800-120126400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:120125800-120126400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:120125800-120126600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:120125800-120126600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:120125800-120126600	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr11:120125800-120126600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:120125800-120126600	Enhancers	Gastric	stomach
15	chr11:120125800-120126600	Enhancers	Pancreas	Pancrea
16	chr11:120125800-120126800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr11:120125800-120126800	Flanking Active TSS	Fetal Brain Female	brain
18	chr11:120125800-120127400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr11:120125800-120127600	Bivalent Enhancer	Fetal Heart	heart
20	chr11:120126000-120126400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:120126000-120126400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr11:120126000-120126400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:120126000-120126400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:120126000-120126400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:120126000-120126400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:120126000-120126400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:120126000-120126600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:120126000-120126600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:120126000-120126800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:120126000-120126800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr11:120126000-120126800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr11:120126000-120126800	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr11:120126000-120127000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:120126200-120126400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:120126200-120126600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:120126200-120126600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:120126200-120126600	Bivalent Enhancer	GM12878-XiMat	blood
38	chr11:120126200-120126800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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