Variant report

Variant	rs56153231
Chromosome Location	chr3:112100943-112100944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11709692	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11709796	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11710577	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1996722	0.84[ASN][1000 genomes]
rs55723685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785180	0.87[ASN][1000 genomes]
rs6785965	0.87[ASN][1000 genomes]
rs7611568	0.81[ASN][1000 genomes]
rs7653398	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877341	chr3:112079277-112125521	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1002567	chr3:112088498-112144063	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2830128	chr3:112090292-112144026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	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
5	nsv591295	chr3:112093413-112113334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1004948	chr3:112098217-112113334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	nsv999904	chr3:112098217-112114816	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	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
9	nsv1011313	chr3:112098993-112113334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
10	nsv1010410	chr3:112099148-112113334	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
11	nsv997659	chr3:112099148-112135687	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1007459	chr3:112099647-112113334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
13	nsv1006537	chr3:112099647-112114816	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:112085800-112101400	Weak transcription	Aorta	Aorta
3	chr3:112094400-112104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:112095000-112104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:112095400-112103600	Weak transcription	Fetal Thymus	thymus
6	chr3:112097000-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:112097000-112103800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:112097000-112105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:112097200-112101400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:112097200-112101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:112097600-112110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:112098000-112103800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:112098000-112108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:112098400-112101800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:112098400-112103800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:112098400-112108800	Weak transcription	NH-A	brain
17	chr3:112098800-112103600	Weak transcription	Osteobl	bone
18	chr3:112098800-112108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:112098800-112108400	Weak transcription	HMEC	breast
20	chr3:112099400-112107400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:112100200-112101400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:112100200-112101400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:112100600-112102000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr3:112100600-112102200	Enhancers	Primary hematopoietic stem cells	blood

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