Variant report

Variant	rs58348518
Chromosome Location	chr6:2278765-2278766
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10458134	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11242746	0.80[EUR][1000 genomes]
rs11242747	0.80[EUR][1000 genomes]
rs11242751	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11242753	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11242755	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11242756	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12198593	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12198715	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12207377	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12209836	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12215421	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12215717	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12216224	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12523924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12525444	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12529507	0.82[ASN][1000 genomes]
rs12529715	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12660715	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12664420	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12665003	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12665493	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13194365	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13195362	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13196348	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13196472	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13202573	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13206299	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13215846	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134819	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2129178	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295009	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34244401	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34439821	0.87[AMR][1000 genomes]
rs35063859	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35410074	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800189	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3929752	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60015886	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73342732	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7452388	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9501817	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9647650	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
9	nsv1022166	chr6:2199666-2320800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1017174	chr6:2213893-2340529	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1033201	chr6:2218647-2308518	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv538101	chr6:2218647-2308518	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	esv2763526	chr6:2230064-2311916	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
15	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
16	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2247800-2284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:2255800-2288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:2262200-2282600	Weak transcription	Small Intestine	intestine
4	chr6:2264000-2279000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:2264400-2285800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:2264600-2286400	Weak transcription	HSMM	muscle
7	chr6:2267400-2279800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:2271400-2287600	Weak transcription	Right Ventricle	heart
9	chr6:2273000-2288200	Weak transcription	Aorta	Aorta
10	chr6:2273200-2278800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:2273400-2282000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:2273600-2281200	Weak transcription	Placenta	Placenta
13	chr6:2273600-2284400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:2273600-2286000	Weak transcription	Fetal Thymus	thymus
15	chr6:2273600-2286600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:2273600-2286600	Weak transcription	Pancreas	Pancrea
17	chr6:2273600-2286800	Weak transcription	Colonic Mucosa	Colon
18	chr6:2273600-2288200	Weak transcription	Spleen	Spleen
19	chr6:2273800-2284000	Weak transcription	Thymus	Thymus
20	chr6:2273800-2288800	Weak transcription	Brain Anterior Caudate	brain
21	chr6:2274000-2283800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:2274200-2286200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:2274400-2278800	Weak transcription	Brain Substantia Nigra	brain
24	chr6:2274400-2283200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:2274400-2283800	Weak transcription	Ovary	ovary
26	chr6:2274400-2284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:2274600-2279400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:2274600-2284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:2274600-2290000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:2274800-2280400	Weak transcription	Primary B cells from cord blood	blood
31	chr6:2275000-2279000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:2275200-2283800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:2275400-2280200	Weak transcription	Fetal Intestine Large	intestine
34	chr6:2275400-2283600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:2275400-2319400	Weak transcription	Gastric	stomach
36	chr6:2275600-2278800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:2275600-2278800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:2275600-2280400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:2275600-2280800	Weak transcription	Fetal Intestine Small	intestine
40	chr6:2275600-2283800	Weak transcription	Left Ventricle	heart
41	chr6:2275800-2283800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:2275800-2288200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:2276200-2280000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:2276200-2283200	Weak transcription	Fetal Stomach	stomach
45	chr6:2276400-2279000	Weak transcription	HepG2	liver
46	chr6:2276400-2283800	Weak transcription	HSMMtube	muscle
47	chr6:2276400-2284800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:2276400-2286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:2276400-2287800	Weak transcription	Stomach Mucosa	stomach
50	chr6:2276800-2285400	Weak transcription	NHDF-Ad	bronchial

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