Variant report

Variant	rs477138
Chromosome Location	chr11:64461973-64461974
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	11:64207610-64216678..11:64460470-64464888	K562	blood:
2	chr11:64459982..64462889-chr11:64467567..64471218,3	MCF-7	breast:
3	chr11:64442311..64444826-chr11:64460106..64462040,2	MCF-7	breast:
4	chr11:64454221..64456529-chr11:64460067..64463247,3	MCF-7	breast:
5	chr11:64461004..64463360-chr11:64511216..64513229,2	K562	blood:

Variant related genes	Relation type
ENSG00000068831	Chromatin interaction
ENSG00000181908	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10792443	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10897518	1.00[JPT][hapmap]
rs11231825	1.00[JPT][hapmap]
rs11231845	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11606370	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11607663	0.82[ASN][1000 genomes]
rs2277311	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2360872	1.00[JPT][hapmap]
rs2360873	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2666559	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2666563	0.83[ASN][1000 genomes]
rs35195142	0.82[ASN][1000 genomes]
rs3825018	1.00[JPT][hapmap]
rs475642	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs492175	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4930556	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs495130	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs500531	0.84[JPT][hapmap]
rs504915	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs505802	1.00[JPT][hapmap]
rs506338	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs518053	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs519090	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs524023	1.00[JPT][hapmap]
rs526338	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs528211	1.00[JPT][hapmap]
rs538737	1.00[JPT][hapmap]
rs544838	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs549461	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs555456	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs566653	1.00[YRI][hapmap]
rs7102344	0.82[ASN][1000 genomes]
rs7932437	0.81[ASN][1000 genomes]
rs80841	0.85[ASN][1000 genomes]
rs893006	1.00[JPT][hapmap]
rs9734313	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	75 gene(s)	inside rSNPs	diseases
7	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
8	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
10	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
14	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64456400-64462200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64460000-64463200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:64460000-64464200	Enhancers	Fetal Brain Male	brain
4	chr11:64460200-64462000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr11:64460200-64462200	Enhancers	Fetal Brain Female	brain
6	chr11:64460200-64463000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:64460400-64462800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:64460400-64463000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:64460400-64463200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:64460800-64462200	Weak transcription	Thymus	Thymus
11	chr11:64460800-64462600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:64461000-64462600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:64461000-64463000	Enhancers	Brain Cingulate Gyrus	brain
14	chr11:64461200-64462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:64461200-64463600	Enhancers	Brain Hippocampus Middle	brain
16	chr11:64461400-64463000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr11:64461400-64463600	Enhancers	Brain Anterior Caudate	brain
18	chr11:64461400-64463600	Enhancers	Brain Substantia Nigra	brain
19	chr11:64461600-64462000	Weak transcription	Fetal Thymus	thymus
20	chr11:64461600-64462400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:64461600-64462800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr11:64461600-64463200	Enhancers	Brain Angular Gyrus	brain
23	chr11:64461800-64462000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr11:64461800-64462400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:64461800-64462800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:64461800-64462800	Enhancers	Primary B cells from cord blood	blood
27	chr11:64461800-64462800	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr11:64461800-64462800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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