Variant report

Variant	rs73853424
Chromosome Location	chr3:112178350-112178351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56299466	1.00[AMR][1000 genomes]
rs60270414	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6438075	1.00[AMR][1000 genomes]
rs6438077	1.00[AMR][1000 genomes]
rs6438078	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793052	1.00[AMR][1000 genomes]
rs6796160	1.00[AMR][1000 genomes]
rs7628653	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1005323	chr3:112171990-112274613	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112173400-112182200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:112175200-112178800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:112176400-112180200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:112176400-112180800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr3:112177000-112181000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:112177200-112180200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr3:112177400-112180200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:112177800-112179600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr3:112177800-112182200	Enhancers	Primary T cells from cord blood	blood
10	chr3:112178000-112178600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:112178000-112178800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr3:112178000-112180600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:112178200-112179000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:112178200-112179200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:112178200-112179400	Flanking Active TSS	GM12878-XiMat	blood
16	chr3:112178200-112179800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:112178200-112180000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr3:112178200-112180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:112178200-112180600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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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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