Variant report

Variant	rs57362080
Chromosome Location	chr11:64425225-64425226
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	POLR2A	chr11:64411167-64429413	U87	brain:	n/a	n/a
2	POLR2A	chr11:64414444-64429407	U87	brain:	n/a	n/a
3	GATA3	chr11:64424926-64425262	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr11:64425052-64425823	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64424901..64427450-chr11:64452381..64454020,2	K562	blood:
2	chr11:64423611..64425758-chr11:64437675..64439983,2	K562	blood:
3	chr11:64418565..64420140-chr11:64423624..64426189,2	K562	blood:

Variant related genes	Relation type
NRXN2	TF binding region

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

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

rs_ID	r²[population]
rs2285341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55706123	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55860015	1.00[AMR][1000 genomes]
rs56946751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59450926	1.00[AFR][1000 genomes];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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64411600-64427800	Weak transcription	Aorta	Aorta
2	chr11:64412400-64428200	Weak transcription	Right Atrium	heart
3	chr11:64412600-64425600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64415800-64430000	Weak transcription	Gastric	stomach
5	chr11:64420200-64426200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:64420400-64427800	Enhancers	Fetal Thymus	thymus
7	chr11:64420600-64426600	Weak transcription	A549	lung
8	chr11:64420800-64426400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:64421000-64427200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:64421000-64434800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:64421200-64427000	Weak transcription	Brain Angular Gyrus	brain
12	chr11:64421200-64453800	Weak transcription	Fetal Brain Male	brain
13	chr11:64421400-64428600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:64422400-64427200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:64422800-64427400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:64423000-64430400	Strong transcription	Brain Germinal Matrix	brain
17	chr11:64423000-64432800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:64423600-64427200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:64423800-64426000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:64423800-64426400	Enhancers	K562	blood
21	chr11:64424000-64425400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:64424000-64426200	Enhancers	Thymus	Thymus
23	chr11:64424000-64427200	Weak transcription	Brain Anterior Caudate	brain
24	chr11:64424200-64426000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:64424200-64426000	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:64424200-64426400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:64424200-64428400	Weak transcription	Fetal Lung	lung
28	chr11:64424400-64425800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:64424400-64426000	Genic enhancers	Osteobl	bone
30	chr11:64424400-64426400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:64424400-64426600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:64424400-64426600	Weak transcription	NHLF	lung
33	chr11:64424400-64427200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:64424400-64427400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:64424400-64435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:64424600-64425800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:64424600-64426600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:64424600-64426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:64424600-64426600	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:64424600-64426600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:64424600-64426600	Weak transcription	Spleen	Spleen
42	chr11:64424600-64426800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:64424600-64426800	Enhancers	Hela-S3	cervix
44	chr11:64424600-64427200	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:64424600-64427800	Weak transcription	Fetal Stomach	stomach
46	chr11:64424800-64425800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:64424800-64425800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:64424800-64426000	Enhancers	Primary T cells from cord blood	blood
49	chr11:64424800-64426600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:64424800-64426600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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