Variant report

Variant	rs73413408
Chromosome Location	chr12:119048056-119048057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs73411647	1.00[AMR][1000 genomes]
rs73411686	1.00[AMR][1000 genomes]
rs73411698	1.00[AMR][1000 genomes]
rs73411700	1.00[AMR][1000 genomes]
rs73413406	1.00[AMR][1000 genomes]
rs73413407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413464	1.00[AMR][1000 genomes]
rs73413482	1.00[AMR][1000 genomes]
rs73413498	1.00[AMR][1000 genomes]
rs7967263	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1043906	chr12:118991884-119087146	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3505514	chr12:119045969-119050267	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv3509709	chr12:119046419-119051617	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3509710	chr12:119046419-119051617	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv3505515	chr12:119047048-119049139	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3505513	chr12:119047052-119049153	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3505516	chr12:119047083-119049115	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv3505512	chr12:119047163-119049069	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
10	esv3505517	chr12:119047167-119049067	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv2763005	chr12:119047482-119049604	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119042800-119048600	Weak transcription	Pancreas	Pancrea
2	chr12:119044800-119049200	Weak transcription	Fetal Brain Male	brain
3	chr12:119047200-119049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:119047400-119050200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:119047600-119050000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:119047600-119050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:119048000-119049000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:119048000-119049200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:119048000-119049400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:119048000-119049800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:119048000-119049800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:119048000-119049800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:119048000-119050000	Enhancers	iPS-18 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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