Variant report

Variant	rs72938469
Chromosome Location	chr3:112238235-112238236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112045925..112046858-chr3:112237972..112238492,2	K562	blood:
2	chr3:112046305..112046882-chr3:112237913..112238884,3	MCF-7	breast:
3	chr3:111856051..111856906-chr3:112237978..112238501,2	MCF-7	breast:
4	chr3:112011899..112013194-chr3:112237762..112239193,5	MCF-7	breast:
5	chr3:112011976..112013367-chr3:112237943..112239384,10	MCF-7	breast:
6	chr3:112045750..112047025-chr3:112237531..112238950,15	MCF-7	breast:
7	chr3:111855697..111856656-chr3:112238008..112238836,2	K562	blood:

Variant related genes	Relation type
ENSG00000172139	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13070342	0.94[AFR][1000 genomes]
rs57937078	1.00[AMR][1000 genomes]
rs59090018	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938420	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938422	1.00[AMR][1000 genomes]
rs72938432	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938438	1.00[AMR][1000 genomes]
rs72938454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942068	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942074	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942077	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942080	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942089	1.00[AMR][1000 genomes]
rs72943904	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	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
2	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
3	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
4	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
5	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
6	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112218800-112241600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr3:112227400-112269800	Weak transcription	Small Intestine	intestine
3	chr3:112231600-112246800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:112234000-112247600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:112234200-112272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:112235600-112239800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:112235600-112243000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:112235800-112238800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:112236800-112238800	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:112236800-112238800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:112237000-112245400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:112237000-112247000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:112237200-112245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:112237200-112247400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:112237200-112254200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr3:112237400-112238600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:112237400-112245400	Weak transcription	Primary B cells from cord blood	blood
18	chr3:112237600-112242600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:112237800-112245200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:112238000-112238400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:112238000-112238800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:112238000-112245800	Weak transcription	Primary T cells from cord blood	blood
23	chr3:112238200-112239400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:112238200-112245600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:112238200-112245800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:112238200-112247000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:112238200-112247400	Weak transcription	GM12878-XiMat	blood

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