Variant report

Variant	rs60469143
Chromosome Location	chr6:4851627-4851628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4848197..4852151-chr6:4852565..4855208,4	MCF-7	breast:
2	chr6:4772950..4775571-chr6:4849691..4852683,2	K562	blood:
3	chr6:4850106..4852238-chr6:4856143..4858051,2	K562	blood:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1016878	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2875970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57332003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58825791	1.00[AMR][1000 genomes]
rs58938392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992102	1.00[AMR][1000 genomes]
rs59019088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362617	0.83[AMR][1000 genomes]
rs59469271	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59530044	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60161880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567289	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60650385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61323400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61657419	0.83[AMR][1000 genomes]
rs73348304	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348337	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362531	1.00[AMR][1000 genomes]
rs73362537	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362548	1.00[AMR][1000 genomes]
rs73362552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364539	1.00[AMR][1000 genomes]
rs73364540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364542	1.00[AMR][1000 genomes]
rs73364544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364545	1.00[AMR][1000 genomes]
rs73364551	1.00[AMR][1000 genomes]
rs73364553	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs734783	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription 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	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	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	2 gene(s)	inside rSNPs	diseases
5	nsv966675	chr6:4819733-4855009	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4821200-4853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:4844600-4859600	Weak transcription	Spleen	Spleen
3	chr6:4844800-4853200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:4844800-4854000	Weak transcription	NHEK	skin
5	chr6:4844800-4856600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:4844800-4863000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:4846400-4859000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:4847400-4854000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:4847600-4853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:4847600-4853800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:4847600-4854000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:4847600-4854000	Weak transcription	Lung	lung
14	chr6:4848800-4853000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:4849000-4853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:4849000-4853600	Weak transcription	HepG2	liver
17	chr6:4849000-4854000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:4849000-4854000	Weak transcription	Fetal Stomach	stomach
19	chr6:4849000-4854000	Weak transcription	Left Ventricle	heart
20	chr6:4849000-4854000	Weak transcription	Right Atrium	heart
21	chr6:4849000-4856000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:4849000-4856000	Weak transcription	Brain Angular Gyrus	brain
23	chr6:4849000-4856600	Weak transcription	Right Ventricle	heart
24	chr6:4849000-4857800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:4849000-4859000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:4849000-4863000	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:4849200-4853000	Weak transcription	Esophagus	oesophagus
28	chr6:4849200-4853200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:4849200-4853400	Weak transcription	A549	lung
30	chr6:4849200-4854000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:4849200-4854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:4849200-4854000	Weak transcription	Gastric	stomach
33	chr6:4849200-4854000	Weak transcription	Ovary	ovary
34	chr6:4849200-4854000	Weak transcription	Psoas Muscle	Psoas
35	chr6:4849200-4854200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:4849200-4857800	Weak transcription	Pancreas	Pancrea
37	chr6:4849200-4858200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:4849200-4858600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:4849200-4858600	Weak transcription	Brain Substantia Nigra	brain
40	chr6:4849200-4859000	Weak transcription	Brain Anterior Caudate	brain
41	chr6:4849200-4859400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:4849200-4861400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:4849200-4863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:4849200-4865400	Weak transcription	Aorta	Aorta
45	chr6:4849400-4853200	Weak transcription	Stomach Mucosa	stomach
46	chr6:4849400-4862400	Weak transcription	Fetal Kidney	kidney
47	chr6:4849600-4854000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:4849600-4854000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:4849600-4854000	Weak transcription	Fetal Intestine Small	intestine
50	chr6:4849600-4854400	Weak transcription	Osteobl	bone

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