Variant report

Variant	rs73741659
Chromosome Location	chr5:9112883-9112884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1566894	0.94[EUR][1000 genomes]
rs17237055	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17237125	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238053	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17238371	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17238609	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17309469	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17316598	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814177	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2892389	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41283163	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56196492	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211009	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59536928	0.95[EUR][1000 genomes]
rs60224650	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61181903	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045620	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73740338	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73740340	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73740342	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73740343	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73740344	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73740345	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73740346	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73740358	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73741655	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9040800-9122000	Weak transcription	Colonic Mucosa	Colon
2	chr5:9065400-9115800	Weak transcription	Aorta	Aorta
3	chr5:9086200-9115000	Weak transcription	Fetal Intestine Small	intestine
4	chr5:9092800-9115000	Weak transcription	Fetal Heart	heart
5	chr5:9094200-9115000	Weak transcription	Pancreas	Pancrea
6	chr5:9105000-9119000	Weak transcription	Spleen	Spleen
7	chr5:9105200-9120400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:9105200-9145000	Weak transcription	Osteobl	bone
9	chr5:9105400-9115600	Weak transcription	Fetal Lung	lung
10	chr5:9105400-9118600	Weak transcription	Fetal Stomach	stomach
11	chr5:9105800-9114000	Weak transcription	Fetal Kidney	kidney
12	chr5:9108000-9123200	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:9108400-9113800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:9108400-9115200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:9108400-9118800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:9108400-9135800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:9108600-9113000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:9108600-9113000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:9108600-9115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:9108600-9115000	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:9108600-9115200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:9108600-9115600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:9108600-9118600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:9108600-9118600	Weak transcription	Right Ventricle	heart
25	chr5:9108600-9119000	Weak transcription	Fetal Intestine Large	intestine
26	chr5:9108600-9131800	Weak transcription	NHLF	lung
27	chr5:9108800-9114200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:9108800-9115000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:9108800-9115600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:9108800-9147600	Weak transcription	NHDF-Ad	bronchial
31	chr5:9110000-9113800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:9110000-9115000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:9110800-9113200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:9110800-9114600	Weak transcription	Liver	Liver
35	chr5:9110800-9115600	Weak transcription	Left Ventricle	heart
36	chr5:9111000-9118400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:9111200-9113000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:9111200-9115200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:9111400-9114800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:9112000-9113600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:9112000-9113600	Enhancers	HMEC	breast
42	chr5:9112200-9114600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:9112400-9113200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:9112400-9113400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:9112600-9113600	Enhancers	NHEK	skin
46	chr5:9112600-9117200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:9112800-9113000	Weak transcription	Esophagus	oesophagus
48	chr5:9112800-9119400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:9112800-9126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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