Variant report

Variant	rs1806048
Chromosome Location	chr5:9210969-9210970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10037901	1.00[EUR][1000 genomes]
rs10038331	1.00[EUR][1000 genomes]
rs10062136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10064043	1.00[EUR][1000 genomes]
rs10475461	1.00[EUR][1000 genomes]
rs11956954	1.00[EUR][1000 genomes]
rs13360017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360301	1.00[EUR][1000 genomes]
rs1806025	1.00[EUR][1000 genomes]
rs1806026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1806028	1.00[EUR][1000 genomes]
rs1806029	1.00[EUR][1000 genomes]
rs1806030	1.00[EUR][1000 genomes]
rs1806031	1.00[EUR][1000 genomes]
rs1806035	1.00[EUR][1000 genomes]
rs1806037	1.00[EUR][1000 genomes]
rs1806039	1.00[EUR][1000 genomes]
rs1806040	1.00[EUR][1000 genomes]
rs1806041	1.00[EUR][1000 genomes]
rs1806043	1.00[EUR][1000 genomes]
rs1806044	1.00[EUR][1000 genomes]
rs1806045	1.00[EUR][1000 genomes]
rs1806061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1806068	1.00[EUR][1000 genomes]
rs2387815	1.00[EUR][1000 genomes]
rs28405269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435264	1.00[EUR][1000 genomes]
rs28795500	1.00[EUR][1000 genomes]
rs3026325	1.00[EUR][1000 genomes]
rs3026329	1.00[EUR][1000 genomes]
rs3026330	1.00[EUR][1000 genomes]
rs3026332	1.00[EUR][1000 genomes]
rs3026334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3026335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3846581	1.00[EUR][1000 genomes]
rs3892835	1.00[EUR][1000 genomes]
rs56698989	1.00[EUR][1000 genomes]
rs59081292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6874269	1.00[EUR][1000 genomes]
rs6885837	1.00[EUR][1000 genomes]
rs73044789	1.00[AMR][1000 genomes]
rs73046643	1.00[EUR][1000 genomes]
rs73046646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7721539	1.00[EUR][1000 genomes]
rs7727000	1.00[EUR][1000 genomes]
rs7735941	1.00[EUR][1000 genomes]
rs877189	1.00[EUR][1000 genomes]
rs877190	1.00[EUR][1000 genomes]
rs886506	1.00[EUR][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:40 , 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	chr5:9198600-9212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:9199000-9218400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:9199000-9220800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:9201400-9214000	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:9202400-9223600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:9204200-9222600	Weak transcription	Fetal Heart	heart
21	chr5:9206000-9211000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:9206000-9214400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:9208400-9213400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:9208800-9212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:9208800-9213000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:9209000-9212800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:9209000-9220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:9209400-9211800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:9209600-9211200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:9209600-9213200	Enhancers	NHDF-Ad	bronchial
31	chr5:9209600-9214400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:9209800-9211000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:9209800-9211000	Enhancers	NHLF	lung
34	chr5:9210000-9211800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:9210000-9211800	Enhancers	HMEC	breast
36	chr5:9210400-9211800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:9210400-9213200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:9210800-9211600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:9210800-9211800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:9210800-9212800	Weak transcription	Osteobl	bone

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