Variant report

Variant	rs10054206
Chromosome Location	chr5:43677976-43677977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10052717	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10054154	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10058837	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10065095	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10067068	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078602	1.00[AMR][1000 genomes]
rs10472385	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10473316	1.00[ASN][1000 genomes]
rs10473317	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13355686	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs13358229	1.00[ASN][1000 genomes]
rs13359176	1.00[AMR][1000 genomes]
rs13360656	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs13360905	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13436624	1.00[AMR][1000 genomes]
rs28629332	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55912106	1.00[ASN][1000 genomes]
rs56222737	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58623090	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59405308	1.00[AMR][1000 genomes]
rs59604594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59661208	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59750428	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60376053	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6883158	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751749	1.00[AMR][1000 genomes]
rs73751779	1.00[ASN][1000 genomes]
rs73751782	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751784	1.00[ASN][1000 genomes]
rs73751785	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751786	1.00[ASN][1000 genomes]
rs73751787	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751789	1.00[ASN][1000 genomes]
rs73751792	1.00[ASN][1000 genomes]
rs73751793	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751795	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751797	1.00[ASN][1000 genomes]
rs73751798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751801	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73753610	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73753611	1.00[AMR][1000 genomes]
rs7701080	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7702908	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7719138	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7732460	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap]
rs9292888	1.00[ASN][1000 genomes]
rs9292889	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9292890	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654395	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43650200-43685400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:43657600-43695200	Weak transcription	K562	blood
3	chr5:43659400-43696800	Weak transcription	Gastric	stomach
4	chr5:43659600-43678200	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:43659600-43680400	Weak transcription	Psoas Muscle	Psoas
6	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
7	chr5:43659600-43710000	Weak transcription	Ovary	ovary
8	chr5:43660000-43685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:43660200-43684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:43661000-43680400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:43661000-43680400	Weak transcription	Brain Substantia Nigra	brain
12	chr5:43661000-43680400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:43661000-43680400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:43661000-43680400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:43661000-43680600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:43661000-43682400	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:43661000-43682600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:43661000-43683200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:43661000-43695600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:43661000-43702800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:43661000-43711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:43661200-43678400	Weak transcription	HUVEC	blood vessel
23	chr5:43664800-43699800	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:43665200-43688600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:43665200-43690400	Weak transcription	Fetal Lung	lung
26	chr5:43665200-43702400	Weak transcription	Fetal Heart	heart
27	chr5:43666800-43680400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:43666800-43696600	Weak transcription	Spleen	Spleen
29	chr5:43667000-43680400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:43667000-43680600	Weak transcription	Fetal Brain Female	brain
31	chr5:43667000-43695000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:43667000-43695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:43667000-43696800	Weak transcription	Lung	lung
34	chr5:43667000-43703200	Weak transcription	Colonic Mucosa	Colon
35	chr5:43667200-43695400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:43667400-43684000	Weak transcription	Fetal Intestine Small	intestine
37	chr5:43667400-43685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:43671000-43685000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:43672400-43695800	Weak transcription	Esophagus	oesophagus
40	chr5:43673400-43680400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:43673400-43680400	Weak transcription	Right Ventricle	heart
42	chr5:43673400-43695400	Weak transcription	Fetal Stomach	stomach
43	chr5:43673400-43696400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:43673600-43684000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:43673600-43687800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:43674000-43678400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:43674200-43678800	Strong transcription	Primary B cells from cord blood	blood
48	chr5:43674200-43686000	Strong transcription	Dnd41	blood
49	chr5:43674400-43680400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:43674600-43680400	Weak transcription	HSMM	muscle

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