Variant report

Variant	rs11692031
Chromosome Location	chr2:210233639-210233640
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:210232889..210235431-chr2:210287051..210289386,3	MCF-7	breast:
2	chr2:210232314..210234068-chr2:211034743..211037844,3	MCF-7	breast:
3	chr2:210232168..210234903-chr2:210243196..210246928,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231294	Chromatin interaction
ENSG00000263530	Chromatin interaction
ENSG00000144445	Chromatin interaction
ENSG00000078018	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10192555	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10203861	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10209816	0.92[ASN][1000 genomes]
rs10804175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1374334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1374335	0.86[AFR][1000 genomes]
rs4417658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6726105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs975719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875764	chr2:210195717-210240990	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1014900	chr2:210205050-210235562	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1006636	chr2:210207332-210235562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11692031	MAP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210231000-210233800	Enhancers	NHEK	skin
2	chr2:210231000-210234600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:210231000-210234800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:210231000-210234800	Enhancers	HMEC	breast
5	chr2:210231600-210234600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:210231800-210233800	Enhancers	HUVEC	blood vessel
7	chr2:210231800-210234000	Enhancers	Osteobl	bone
8	chr2:210231800-210234400	Enhancers	NH-A	brain
9	chr2:210231800-210235000	Enhancers	Hela-S3	cervix
10	chr2:210232000-210233800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:210232000-210235000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:210232200-210234400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:210232800-210234200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:210232800-210234400	Enhancers	Fetal Heart	heart
15	chr2:210233000-210234200	Flanking Active TSS	A549	lung
16	chr2:210233000-210234400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:210233200-210234400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:210233200-210234400	Enhancers	HSMM	muscle
19	chr2:210233400-210233800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:210233600-210233800	Flanking Active TSS	Right Atrium	heart
21	chr2:210233600-210234000	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr2:210233600-210234000	Active TSS	Brain Hippocampus Middle	brain
23	chr2:210233600-210234000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:210233600-210234000	Enhancers	Ovary	ovary
25	chr2:210233600-210234000	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:210233600-210234200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr2:210233600-210234600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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