Variant report

Variant	rs2077586
Chromosome Location	chr2:73161551-73161552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10183113	0.91[YRI][hapmap]
rs10185826	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10196456	0.83[YRI][hapmap]
rs11126387	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12470805	0.93[CEU][hapmap];0.82[LWK][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap]
rs12473812	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs12713779	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17008495	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1898442	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2421097	1.00[JPT][hapmap]
rs34419497	0.85[ASN][1000 genomes]
rs56986198	0.85[ASN][1000 genomes]
rs6722190	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6745468	0.91[YRI][hapmap]
rs746212	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs999494	0.85[JPT][hapmap];0.85[ASN][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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2077586	NAGK	cis	parietal	SCAN
rs2077586	MPHOSPH10	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73157000-73163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:73158800-73162000	Enhancers	Fetal Intestine Small	intestine
3	chr2:73158800-73162200	Enhancers	Fetal Intestine Large	intestine
4	chr2:73159400-73162600	Weak transcription	Fetal Brain Male	brain
5	chr2:73159400-73163400	Weak transcription	Brain Angular Gyrus	brain
6	chr2:73159800-73169600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:73159800-73170600	Weak transcription	Aorta	Aorta
8	chr2:73160000-73166600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:73160200-73163000	Strong transcription	Fetal Brain Female	brain
10	chr2:73160200-73163400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:73160200-73164200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:73160400-73161800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:73161200-73162800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:73161200-73162800	Enhancers	HMEC	breast
15	chr2:73161400-73162200	Enhancers	NHEK	skin
16	chr2:73161400-73162800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:73161400-73162800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum

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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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