Variant report

Variant	rs6486138
Chromosome Location	chr11:9114138-9114139
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	CTCF	chr11:9114080-9114230	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9108004..9116385-chr11:9156452..9162678,21	MCF-7	breast:
2	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
3	chr11:9113356..9115182-chr11:9141033..9143763,3	MCF-7	breast:
4	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:

Variant related genes	Relation type
SCUBE2	TF binding region
KRT8P41	TF binding region
MIR5691	TF binding region
ENSG00000175356	Chromatin interaction
ENSG00000166483	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10840170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10840171	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10840186	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10840188	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10840189	1.00[JPT][hapmap]
rs11042196	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11042197	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11042215	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11042217	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs11042231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11042232	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11042253	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11042268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1136966	1.00[CHB][hapmap]
rs11607384	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs12360767	1.00[JPT][hapmap]
rs12363839	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17257379	1.00[JPT][hapmap]
rs1984775	1.00[CHB][hapmap]
rs2133215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2173406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2653574	1.00[CHB][hapmap]
rs4061640	1.00[CHB][hapmap]
rs4910439	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910443	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7103472	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7113467	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7114013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7129049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7396115	1.00[CHB][hapmap]
rs7396130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7396541	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7396840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7929621	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs7936201	1.00[CHB][hapmap]
rs7936622	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7941341	1.00[CHB][hapmap]
rs7945759	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7949022	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7949349	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS 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	29 gene(s)	inside rSNPs	diseases
3	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv467706	chr11:9077652-9114999	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv553455	chr11:9077652-9114999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	esv3404280	chr11:9111401-9114249	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
9	esv3451461	chr11:9112126-9114374	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9113200-9114200	Enhancers	Fetal Heart	heart
2	chr11:9113400-9114800	Enhancers	HSMMtube	muscle
3	chr11:9113600-9114200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
4	chr11:9113600-9114400	Weak transcription	HSMM	muscle
5	chr11:9113600-9114600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9113600-9116200	Enhancers	Pancreas	Pancrea
7	chr11:9113600-9118600	Weak transcription	Right Atrium	heart
8	chr11:9113600-9159800	Weak transcription	Right Ventricle	heart
9	chr11:9113800-9114200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:9113800-9114200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:9113800-9114200	Bivalent Enhancer	Brain Germinal Matrix	brain
12	chr11:9113800-9114200	Enhancers	Colonic Mucosa	Colon
13	chr11:9113800-9114400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:9113800-9115000	Weak transcription	Adipose Nuclei	Adipose
15	chr11:9113800-9115200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:9113800-9115400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:9114000-9114600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:9114000-9115400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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