Variant report

Variant	rs55860015
Chromosome Location	chr11:64433434-64433435
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	MAFK	chr11:64433031-64433715	K562	blood:	n/a	chr11:64433223-64433239 chr11:64433657-64433672
2	POLR2A	chr11:64432853-64433476	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64432980..64434940-chr11:64442669..64444343,2	MCF-7	breast:
2	chr11:64430526..64434580-chr11:64434657..64436999,3	K562	blood:
3	chr11:64432055..64434401-chr11:64438499..64440363,2	MCF-7	breast:
4	chr11:64433146..64435072-chr11:64526014..64527823,2	MCF-7	breast:
5	chr11:64426242..64429718-chr11:64430472..64434531,3	K562	blood:
6	chr11:64426537..64429718-chr11:64431024..64434752,9	K562	blood:
7	chr11:64421466..64423786-chr11:64432539..64435011,3	K562	blood:

Variant related genes	Relation type
NRXN2	TF binding region
ENSG00000110076	Chromatin interaction
ENSG00000068976	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2285341	1.00[AMR][1000 genomes]
rs55706123	1.00[AMR][1000 genomes]
rs56946751	1.00[AMR][1000 genomes]
rs57362080	1.00[AMR][1000 genomes]
rs59450926	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64421000-64434800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:64421200-64453800	Weak transcription	Fetal Brain Male	brain
3	chr11:64424400-64435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:64428800-64440400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:64428800-64442600	Weak transcription	Right Atrium	heart
6	chr11:64428800-64442800	Weak transcription	Aorta	Aorta
7	chr11:64429000-64434400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:64429200-64434600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:64429400-64434400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:64429400-64434400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:64429400-64434400	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:64429400-64434400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:64429400-64439600	Weak transcription	Brain Substantia Nigra	brain
14	chr11:64429400-64442800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:64431600-64433600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:64431600-64442000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:64432000-64433600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:64432200-64433600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:64432800-64433600	Enhancers	Adipose Nuclei	Adipose
20	chr11:64432800-64433600	Enhancers	Fetal Muscle Leg	muscle
21	chr11:64432800-64433800	Enhancers	K562	blood
22	chr11:64433000-64433600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:64433000-64438800	Strong transcription	Brain Germinal Matrix	brain
24	chr11:64433200-64433600	Enhancers	Hela-S3	cervix
25	chr11:64433200-64433600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:64433200-64433800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:64433200-64434400	Weak transcription	Fetal Brain Female	brain
28	chr11:64433200-64437000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:64433400-64433600	Enhancers	Spleen	Spleen
30	chr11:64433400-64434800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:64433400-64435000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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