Variant report

Variant	rs4702613
Chromosome Location	chr5:9213483-9213484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10064203	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1154916	0.97[ASN][1000 genomes]
rs13154848	0.94[EUR][1000 genomes]
rs1805960	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805962	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805964	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805966	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806049	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734151	1.00[JPT][hapmap]
rs3843473	0.94[ASN][1000 genomes]
rs3846579	0.97[ASN][1000 genomes]
rs3846582	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3846583	0.97[ASN][1000 genomes]
rs3857345	0.97[ASN][1000 genomes]
rs3888591	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3902451	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3902452	0.97[ASN][1000 genomes]
rs3912189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40678	0.96[ASN][1000 genomes]
rs40679	0.92[ASN][1000 genomes]
rs6555590	1.00[JPT][hapmap]
rs877191	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1020815	chr5:9135207-9425649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv498044	chr5:9143754-9402870	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv530183	chr5:9146506-9413373	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:9154000-9226200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:9175600-9227400	Weak transcription	Colonic Mucosa	Colon
4	chr5:9185400-9264600	Weak transcription	Left Ventricle	heart
5	chr5:9189400-9228200	Weak transcription	Right Ventricle	heart
6	chr5:9190600-9228600	Weak transcription	Esophagus	oesophagus
7	chr5:9192800-9239600	Weak transcription	Pancreas	Pancrea
8	chr5:9194000-9222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:9197200-9218800	Weak transcription	Liver	Liver
10	chr5:9197400-9223800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:9197600-9219800	Weak transcription	Fetal Stomach	stomach
12	chr5:9197600-9220800	Weak transcription	Aorta	Aorta
13	chr5:9197600-9220800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:9197800-9214200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:9199000-9218400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:9199000-9220800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:9201400-9214000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:9202400-9223600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:9204200-9222600	Weak transcription	Fetal Heart	heart
20	chr5:9206000-9214400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:9209000-9220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:9209600-9214400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:9211000-9214800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:9211000-9224600	Weak transcription	NHLF	lung
25	chr5:9211000-9233000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:9211600-9213600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:9211800-9244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:9212800-9214200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:9212800-9215400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:9213000-9215800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:9213000-9220800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:9213200-9214000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:9213200-9214200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:9213200-9215000	Weak transcription	Osteobl	bone
35	chr5:9213200-9215400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:9213400-9213600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:9213400-9214200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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