Variant report

Variant	rs7312544
Chromosome Location	chr12:118977762-118977763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10850991	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12299767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12300409	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12300584	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12306660	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12312138	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12312974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7134634	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7315470	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899548	chr12:118909907-118987597	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2830233	chr12:118952486-119011469	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1038601	chr12:118958107-119023980	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523621	chr12:118958608-119019143	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv560391	chr12:118958608-119019143	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1038024	chr12:118965736-119014468	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv541614	chr12:118965736-119014468	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118958000-118978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118971600-118978600	Weak transcription	Right Atrium	heart
3	chr12:118974400-118978600	Weak transcription	Right Ventricle	heart
4	chr12:118975400-118978600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:118975400-118978600	Weak transcription	Left Ventricle	heart
6	chr12:118975600-118978200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:118975600-118978200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:118975600-118978600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:118975600-118978800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:118976000-118978000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:118976400-118979200	Enhancers	Stomach Smooth Muscle	stomach
12	chr12:118976800-118978200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:118977000-118978600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:118977200-118978000	Weak transcription	Psoas Muscle	Psoas
15	chr12:118977400-118978200	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:118977600-118978800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:118977600-118979000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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

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