Variant report

Variant	rs2180071
Chromosome Location	chr1:185323317-185323318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10911711	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2207517	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2207518	0.81[AMR][1000 genomes]
rs2207519	0.83[AMR][1000 genomes]
rs4651253	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6679327	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6682074	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6689206	0.87[AMR][1000 genomes]
rs7519628	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv159375	chr1:185321352-185324621	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1008247	chr1:185321360-185345771	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2180071	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185313800-185327800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:185317600-185329400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:185319600-185323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:185319600-185324400	Weak transcription	Fetal Kidney	kidney
5	chr1:185319600-185330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185319600-185335600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:185321200-185325200	Weak transcription	HepG2	liver
8	chr1:185321800-185323400	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:185322000-185327000	Weak transcription	Fetal Heart	heart
10	chr1:185322600-185325200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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