Variant report

Variant	rs73364540
Chromosome Location	chr6:4816324-4816325
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4813237..4814770-chr6:4815633..4817552,2	MCF-7	breast:
2	chr6:4812864..4816772-chr6:4818234..4821083,3	MCF-7	breast:
3	chr6:4809930..4812317-chr6:4814309..4817023,2	K562	blood:
4	chr6:4815291..4819346-chr6:4820857..4822798,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1016878	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2875970	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57332003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58825791	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58938392	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992102	1.00[AMR][1000 genomes]
rs59019088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362617	0.83[AMR][1000 genomes]
rs59469271	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59530044	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60161880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60469143	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567289	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60650385	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61323400	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61657419	0.83[AMR][1000 genomes]
rs73348304	1.00[AMR][1000 genomes]
rs73348324	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348337	1.00[AMR][1000 genomes]
rs73362531	1.00[AMR][1000 genomes]
rs73362537	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362548	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364539	1.00[AMR][1000 genomes]
rs73364542	1.00[AMR][1000 genomes]
rs73364544	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364545	1.00[AMR][1000 genomes]
rs73364551	1.00[AMR][1000 genomes]
rs73364553	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364577	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364580	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs734783	1.00[AMR][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	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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4794800-4818800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:4802400-4818800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:4806800-4819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:4806800-4820200	Weak transcription	NHLF	lung
5	chr6:4806800-4820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:4807000-4817400	Weak transcription	Brain Anterior Caudate	brain
8	chr6:4807000-4821200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:4807200-4819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:4807200-4827800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:4807600-4817000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:4808800-4818800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:4810200-4816600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:4811200-4817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:4811200-4820000	Weak transcription	Colonic Mucosa	Colon
16	chr6:4811200-4820000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:4811200-4820000	Weak transcription	Spleen	Spleen
18	chr6:4811800-4820000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:4812000-4818000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:4812400-4817200	Weak transcription	Gastric	stomach
21	chr6:4812400-4820000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:4812400-4820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:4812400-4820000	Weak transcription	Placenta	Placenta
24	chr6:4812400-4820000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:4812400-4829600	Weak transcription	Left Ventricle	heart
26	chr6:4812600-4816800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:4812600-4817400	Weak transcription	Psoas Muscle	Psoas
28	chr6:4812600-4820200	Weak transcription	Right Ventricle	heart
29	chr6:4812600-4820800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:4812600-4826800	Weak transcription	HepG2	liver
31	chr6:4812800-4816600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:4812800-4817000	Weak transcription	HMEC	breast
33	chr6:4812800-4817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:4812800-4817200	Weak transcription	A549	lung
35	chr6:4812800-4817400	Weak transcription	K562	blood
36	chr6:4812800-4819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:4812800-4819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:4812800-4822800	Weak transcription	Adipose Nuclei	Adipose
39	chr6:4812800-4823000	Weak transcription	Primary T cells from cord blood	blood
40	chr6:4812800-4828800	Weak transcription	Hela-S3	cervix
41	chr6:4813000-4817600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:4813200-4820200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:4813400-4820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:4814200-4829600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:4815000-4818200	Weak transcription	Small Intestine	intestine
46	chr6:4815000-4821000	Weak transcription	Fetal Intestine Small	intestine
47	chr6:4815000-4826000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:4815000-4827400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:4815200-4818200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:4815200-4823000	Weak transcription	Ovary	ovary

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