Variant report

Variant	rs2285341
Chromosome Location	chr11:64453268-64453269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64449751..64452027-chr11:64453256..64456200,2	K562	blood:
2	chr11:64442429..64444740-chr11:64452587..64455440,3	K562	blood:
3	chr11:64411217..64413501-chr11:64452044..64454513,2	K562	blood:
4	chr11:64444836..64449006-chr11:64450961..64453459,3	K562	blood:
5	chr11:64452341..64454041-chr11:64456266..64457869,2	MCF-7	breast:
6	chr11:64451239..64453291-chr11:64456296..64459246,2	MCF-7	breast:
7	chr11:64424901..64427450-chr11:64452381..64454020,2	K562	blood:
8	chr11:64452823..64454490-chr11:64458467..64461028,2	K562	blood:

No data

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10897525	1.00[EUR][1000 genomes]
rs3759049	1.00[EUR][1000 genomes]
rs55706123	1.00[AMR][1000 genomes]
rs55860015	1.00[AMR][1000 genomes]
rs56946751	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57362080	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59450926	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64421200-64453800	Weak transcription	Fetal Brain Male	brain
2	chr11:64443800-64453800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:64444000-64455600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64444000-64456000	Weak transcription	Right Atrium	heart
5	chr11:64444400-64454800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:64445400-64453600	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:64445400-64454000	Strong transcription	Fetal Brain Female	brain
8	chr11:64450000-64453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:64450400-64455400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:64451800-64453400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:64452600-64453600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:64452600-64454000	Genic enhancers	Brain Germinal Matrix	brain
13	chr11:64452600-64454200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:64452800-64454600	Enhancers	Brain Cingulate Gyrus	brain
15	chr11:64452800-64456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:64453000-64454200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:64453000-64456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:64453000-64456000	Weak transcription	NHEK	skin
19	chr11:64453200-64453400	Genic enhancers	Brain Angular Gyrus	brain
20	chr11:64453200-64453400	Genic enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:64453200-64453600	Enhancers	Esophagus	oesophagus
22	chr11:64453200-64454000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:64453200-64454400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:64453200-64454800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:64453200-64455000	Enhancers	Adipose Nuclei	Adipose
26	chr11:64453200-64455000	Enhancers	Brain Substantia Nigra	brain
27	chr11:64453200-64456000	Weak transcription	HMEC	breast

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