Variant report

Variant	rs1479648
Chromosome Location	chr5:9130731-9130732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1382918	0.94[CEU][hapmap]
rs1806097	0.82[JPT][hapmap]
rs190423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2526121	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2526122	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs253648	0.88[ASN][1000 genomes]
rs253649	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs253652	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs253653	0.87[ASN][1000 genomes]
rs253660	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777253	0.94[CEU][hapmap]
rs3777258	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3822764	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6876444	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6897703	0.81[CEU][hapmap]
rs9313270	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs988593	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs990679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
9	nsv830200	chr5:9081023-9269495	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv880683	chr5:9091164-9170323	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv881682	chr5:9100211-9151237	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv880323	chr5:9100211-9157454	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv597070	chr5:9100211-9280338	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv4707	chr5:9124819-9137589	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9105200-9145000	Weak transcription	Osteobl	bone
2	chr5:9108400-9135800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:9108600-9131800	Weak transcription	NHLF	lung
4	chr5:9108800-9147600	Weak transcription	NHDF-Ad	bronchial
5	chr5:9116000-9144600	Weak transcription	Fetal Kidney	kidney
6	chr5:9117400-9135600	Weak transcription	Liver	Liver
7	chr5:9117600-9136400	Weak transcription	Fetal Heart	heart
8	chr5:9117600-9144600	Weak transcription	Fetal Lung	lung
9	chr5:9119200-9135000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:9119200-9153200	Weak transcription	Fetal Intestine Large	intestine
11	chr5:9119400-9134200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:9119400-9136000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:9119400-9136000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:9119400-9136400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:9119400-9144600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:9119400-9144600	Weak transcription	Fetal Intestine Small	intestine
17	chr5:9119400-9151800	Weak transcription	Left Ventricle	heart
18	chr5:9119400-9152000	Weak transcription	Right Ventricle	heart
19	chr5:9119400-9152000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:9119600-9131800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:9119600-9144800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:9122800-9134400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:9123000-9131400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:9123000-9132200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:9124400-9134600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:9124400-9138400	Weak transcription	Ovary	ovary
27	chr5:9124400-9144600	Weak transcription	Fetal Stomach	stomach
28	chr5:9124600-9135600	Weak transcription	Pancreas	Pancrea
29	chr5:9124600-9144600	Weak transcription	Aorta	Aorta
30	chr5:9126600-9135200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:9126800-9134000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:9127600-9134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:9127600-9144000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:9128000-9134400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:9129200-9137400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:9130400-9137200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:9130600-9131400	Strong transcription	Fetal Muscle Leg	muscle

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