Variant report

Variant	rs60470511
Chromosome Location	chr4:99226433-99226434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs28651913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2866008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28683554	1.00[EUR][1000 genomes]
rs58408865	1.00[EUR][1000 genomes]
rs58485619	1.00[EUR][1000 genomes]
rs58977062	1.00[EUR][1000 genomes]
rs59516498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59929475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60266816	1.00[EUR][1000 genomes]
rs61041466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883608	1.00[EUR][1000 genomes]
rs72883610	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883612	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892332	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892346	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892347	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894392	1.00[EUR][1000 genomes]
rs72896117	1.00[EUR][1000 genomes]
rs72896309	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72896311	1.00[EUR][1000 genomes]
rs72896316	1.00[EUR][1000 genomes]
rs72896319	1.00[EUR][1000 genomes]
rs72896324	1.00[EUR][1000 genomes]
rs72896325	1.00[EUR][1000 genomes]
rs72896335	1.00[EUR][1000 genomes]
rs72896338	1.00[EUR][1000 genomes]
rs72896342	1.00[EUR][1000 genomes]
rs72896346	1.00[EUR][1000 genomes]
rs72896356	1.00[EUR][1000 genomes]
rs72896358	1.00[EUR][1000 genomes]
rs72896365	1.00[EUR][1000 genomes]
rs72896389	1.00[EUR][1000 genomes]
rs72896392	1.00[EUR][1000 genomes]
rs72898108	1.00[EUR][1000 genomes]
rs72898341	1.00[EUR][1000 genomes]
rs72898343	1.00[EUR][1000 genomes]
rs72898363	1.00[EUR][1000 genomes]
rs72898376	1.00[EUR][1000 genomes]
rs72898388	1.00[EUR][1000 genomes]
rs72898393	1.00[EUR][1000 genomes]
rs72900361	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900388	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900390	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription 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
3	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
6	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS 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
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:99184200-99242200	Weak transcription	A549	lung
3	chr4:99185400-99239400	Weak transcription	NHEK	skin
4	chr4:99204800-99226600	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:99206000-99234800	Weak transcription	Pancreas	Pancrea
6	chr4:99206200-99229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:99206200-99232800	Weak transcription	Gastric	stomach
8	chr4:99206200-99234000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:99206200-99239800	Weak transcription	Aorta	Aorta
10	chr4:99210200-99250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:99211200-99226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:99212400-99239800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
14	chr4:99213400-99229200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:99214200-99240800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:99215000-99235400	Weak transcription	HSMMtube	muscle
17	chr4:99215000-99235600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
19	chr4:99216200-99226600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:99216600-99226800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:99216800-99227800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:99216800-99236000	Weak transcription	HUVEC	blood vessel
23	chr4:99216800-99236000	Weak transcription	NH-A	brain
24	chr4:99216800-99236000	Weak transcription	NHDF-Ad	bronchial
25	chr4:99216800-99239200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:99217000-99237400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:99217000-99239400	Weak transcription	HMEC	breast
28	chr4:99217600-99235800	Weak transcription	HSMM	muscle
29	chr4:99219000-99252000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:99219600-99226800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:99219600-99236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:99219600-99244600	Weak transcription	Fetal Thymus	thymus
33	chr4:99221400-99234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:99223000-99227400	Weak transcription	Primary T cells from cord blood	blood
35	chr4:99223800-99234400	Weak transcription	Dnd41	blood
36	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:99224400-99240000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:99224400-99247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:99225000-99226600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:99225200-99229000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:99225200-99253400	Weak transcription	Fetal Lung	lung
42	chr4:99225400-99240600	Weak transcription	Primary B cells from cord blood	blood
43	chr4:99225600-99236000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:99226400-99232800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:99226400-99238800	Weak transcription	Fetal Intestine Small	intestine

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