Variant report

Variant	rs7296391
Chromosome Location	chr12:29950936-29950937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11050435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934981	1.00[ASN][1000 genomes]
rs7136365	1.00[ASN][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv557959	chr12:29944670-29959697	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29946400-29953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:29947600-29951200	Enhancers	Hela-S3	cervix
3	chr12:29947600-29951400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:29947800-29951200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:29947800-29951600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:29948000-29951600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:29948600-29951000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:29948600-29952800	Enhancers	Colon Smooth Muscle	Colon
9	chr12:29949400-29951000	Enhancers	Fetal Stomach	stomach
10	chr12:29949400-29952000	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:29949400-29952800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:29950000-29951000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:29950800-29951400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:29950800-29952000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:29950800-29952600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:29950800-29952600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:29950800-29956000	Weak transcription	Spleen	Spleen

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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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