Variant report

Variant	rs10166912
Chromosome Location	chr2:173274750-173274751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16860332	0.80[EUR][1000 genomes]
rs28679867	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10166912	DLX2	cis	cerebellum	SCAN
rs10166912	ITGA6	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173267600-173275600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:173270000-173277600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:173270400-173277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:173271000-173275800	Enhancers	HMEC	breast
5	chr2:173272800-173276400	Enhancers	HUVEC	blood vessel
6	chr2:173273000-173274800	Enhancers	Stomach Mucosa	stomach
7	chr2:173273400-173277600	Weak transcription	Adipose Nuclei	Adipose
8	chr2:173273400-173278000	Weak transcription	Left Ventricle	heart
9	chr2:173273400-173280600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:173273600-173277400	Weak transcription	Thymus	Thymus
11	chr2:173274000-173274800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:173274000-173281000	Weak transcription	Fetal Kidney	kidney
13	chr2:173274600-173277800	Weak transcription	Pancreas	Pancrea
14	chr2:173274600-173290200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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