Variant report

Variant	rs9326757
Chromosome Location	chr5:108351960-108351961
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:108351958-108352311	HepG2	liver:	n/a	n/a
2	GATA3	chr5:108351942-108352398	SH-SY5Y	brain:	n/a	chr5:108352118-108352134 chr5:108352121-108352130 chr5:108352118-108352134 chr5:108352123-108352130 chr5:108352267-108352283 chr5:108352123-108352130 chr5:108352123-108352130 chr5:108352116-108352137 chr5:108352121-108352131 chr5:108352264-108352285

Variant related genes	Relation type
RNU6-47P	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10040665	0.82[JPT][hapmap]
rs10061582	0.83[ASN][1000 genomes]
rs10069467	0.81[JPT][hapmap]
rs10076453	0.82[JPT][hapmap]
rs10477438	0.81[JPT][hapmap]
rs11958509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1427863	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2043287	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2416195	0.92[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs3797838	0.92[YRI][hapmap]
rs4421154	0.85[AMR][1000 genomes]
rs6861439	0.82[ASN][1000 genomes]
rs7706103	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs892009	0.94[ASW][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv4952	chr5:108324146-108369353	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108301600-108361200	Weak transcription	Primary T cells from cord blood	blood
2	chr5:108329600-108359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:108332600-108359400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:108332800-108359800	Weak transcription	Adipose Nuclei	Adipose
5	chr5:108341000-108360000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:108341200-108359800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:108341800-108359400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:108342200-108359800	Weak transcription	NHEK	skin
9	chr5:108346400-108359800	Weak transcription	Left Ventricle	heart
10	chr5:108349800-108357600	Weak transcription	Aorta	Aorta
11	chr5:108350400-108359800	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:108350600-108352800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
14	chr5:108351400-108352000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:108351400-108352200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:108351400-108352800	Enhancers	Ovary	ovary
17	chr5:108351400-108353000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:108351400-108359800	Weak transcription	Pancreas	Pancrea
19	chr5:108351600-108352200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:108351600-108352400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:108351600-108352800	Enhancers	Liver	Liver
22	chr5:108351600-108352800	Enhancers	Fetal Intestine Small	intestine
23	chr5:108351600-108352800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:108351600-108352800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr5:108351600-108352800	Enhancers	Dnd41	blood
26	chr5:108351800-108352000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:108351800-108352000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:108351800-108352000	Enhancers	Duodenum Mucosa	Duodenum
29	chr5:108351800-108352000	Enhancers	Fetal Intestine Large	intestine
30	chr5:108351800-108352000	Enhancers	Fetal Lung	lung
31	chr5:108351800-108352200	Enhancers	Brain Anterior Caudate	brain
32	chr5:108351800-108352200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:108351800-108352400	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:108351800-108352800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:108351800-108352800	Enhancers	GM12878-XiMat	blood

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