Variant report

Variant	rs4647061
Chromosome Location	chr5:60225292-60225293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59973332..59975337-chr5:60224481..60226392,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10035893	0.87[AMR][1000 genomes]
rs10043790	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10044183	0.87[AMR][1000 genomes]
rs10046059	0.87[AMR][1000 genomes]
rs10050696	0.87[AMR][1000 genomes]
rs10051150	0.87[AMR][1000 genomes]
rs10056202	0.87[AMR][1000 genomes]
rs10056513	0.87[AMR][1000 genomes]
rs10058726	0.87[AMR][1000 genomes]
rs10064129	0.87[AMR][1000 genomes]
rs10064292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10067476	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10069623	0.87[AMR][1000 genomes]
rs10071845	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077508	0.87[AMR][1000 genomes]
rs10471266	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10471504	0.87[AMR][1000 genomes]
rs12110162	0.87[AMR][1000 genomes]
rs12696977	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13353957	0.87[AMR][1000 genomes]
rs13355940	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13356787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13360962	0.87[AMR][1000 genomes]
rs13362092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1563903	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2045678	0.87[AMR][1000 genomes]
rs2161199	0.87[AMR][1000 genomes]
rs28411035	0.87[AMR][1000 genomes]
rs28446443	0.87[AMR][1000 genomes]
rs28507971	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534860	0.87[AMR][1000 genomes]
rs28582880	0.87[AMR][1000 genomes]
rs28715442	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28781684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28816681	0.87[AMR][1000 genomes]
rs28882716	0.87[AMR][1000 genomes]
rs4647029	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647030	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4647036	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647079	0.87[AMR][1000 genomes]
rs4647086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647097	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647127	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647144	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647149	0.87[AMR][1000 genomes]
rs4647157	0.87[AMR][1000 genomes]
rs56791802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58104554	0.87[AMR][1000 genomes]
rs58495922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6887938	0.87[AMR][1000 genomes]
rs6894359	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6894736	0.87[AMR][1000 genomes]
rs73095990	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095991	0.87[AMR][1000 genomes]
rs73095993	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099808	0.87[AMR][1000 genomes]
rs73099809	0.87[AMR][1000 genomes]
rs73099811	0.87[AMR][1000 genomes]
rs73112244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73112254	0.87[AMR][1000 genomes]
rs73114340	0.87[AMR][1000 genomes]
rs7704436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716539	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7720240	0.87[AMR][1000 genomes]
rs7728655	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7731888	0.87[AMR][1000 genomes]
rs7734656	0.87[AMR][1000 genomes]
rs7735610	0.87[AMR][1000 genomes]
rs7735913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9291698	0.87[AMR][1000 genomes]
rs9291699	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9291703	0.87[AMR][1000 genomes]
rs9968618	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv598306	chr5:60129361-60266875	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv598307	chr5:60129361-60308836	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv462200	chr5:60135985-60266875	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv598309	chr5:60135985-60266875	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv598310	chr5:60135985-60308836	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv598311	chr5:60136626-60308836	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv520871	chr5:60141245-60320157	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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
21	nsv598312	chr5:60147754-60313015	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv881718	chr5:60147754-60313015	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	esv2762523	chr5:60166108-60229718	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv881719	chr5:60167888-60241826	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	nsv1025896	chr5:60190594-60255004	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
27	nsv881720	chr5:60215481-60237984	Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	esv3447747	chr5:60217244-60241866	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv933573	chr5:60224875-60309751	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60167800-60228200	Weak transcription	Psoas Muscle	Psoas
2	chr5:60175800-60239400	Weak transcription	NHEK	skin
3	chr5:60177200-60239600	Weak transcription	HSMMtube	muscle
4	chr5:60177400-60232800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:60181600-60230800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:60183400-60228000	Weak transcription	Small Intestine	intestine
7	chr5:60187600-60239600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:60187800-60239600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:60189400-60240000	Weak transcription	Spleen	Spleen
10	chr5:60189600-60239600	Weak transcription	Right Ventricle	heart
11	chr5:60189600-60240000	Weak transcription	Pancreas	Pancrea
12	chr5:60189800-60225800	Weak transcription	Fetal Brain Female	brain
13	chr5:60191000-60227200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:60191000-60232800	Weak transcription	Fetal Stomach	stomach
15	chr5:60193200-60227400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:60193200-60232800	Weak transcription	Lung	lung
17	chr5:60193200-60239800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:60201600-60229800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:60201800-60225600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:60207600-60225400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:60211800-60233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:60213000-60239800	Weak transcription	Colonic Mucosa	Colon
23	chr5:60213200-60233000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:60213200-60233200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:60213400-60232600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:60213400-60232800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:60213400-60239800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:60213800-60239600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:60214000-60227600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:60214200-60228200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:60214400-60231200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:60214400-60240000	Weak transcription	Brain Substantia Nigra	brain
33	chr5:60214600-60233400	Weak transcription	Placenta	Placenta
34	chr5:60214800-60233200	Weak transcription	Left Ventricle	heart
35	chr5:60214800-60233600	Weak transcription	Fetal Kidney	kidney
36	chr5:60214800-60240000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:60214800-60240200	Weak transcription	Aorta	Aorta
38	chr5:60215200-60232600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:60217200-60225400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:60218800-60238800	Weak transcription	Liver	Liver
41	chr5:60220000-60226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:60220000-60232800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:60221600-60239800	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:60222000-60233200	Weak transcription	Thymus	Thymus
45	chr5:60222000-60239600	Weak transcription	NHLF	lung
46	chr5:60222400-60225400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:60222400-60225800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:60222800-60225400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:60222800-60225400	Strong transcription	Fetal Intestine Large	intestine
50	chr5:60223000-60225400	Strong transcription	Primary B cells from cord blood	blood

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