Variant report

Variant	rs57332003
Chromosome Location	chr6:4810268-4810269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4804953..4807169-chr6:4808675..4810449,2	MCF-7	breast:
2	chr6:4800467..4802843-chr6:4809432..4811722,2	MCF-7	breast:
3	chr6:4809930..4812317-chr6:4814309..4817023,2	K562	blood:
4	chr6:4804785..4806447-chr6:4808370..4810719,2	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	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2875970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58825791	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58938392	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992102	1.00[AMR][1000 genomes]
rs59019088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362617	0.83[AMR][1000 genomes]
rs59469271	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59530044	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60161880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60469143	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567289	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60650385	0.91[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	1.00[AMR][1000 genomes]
rs73348324	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348337	1.00[AMR][1000 genomes]
rs73362531	1.00[AMR][1000 genomes]
rs73362537	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362548	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364539	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364542	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364545	1.00[AMR][1000 genomes]
rs73364551	1.00[AMR][1000 genomes]
rs73364553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364580	0.93[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:84 , 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	chr6:4800000-4810400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:4801800-4811600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:4802200-4811200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:4802400-4810400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:4802400-4812000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:4802400-4818800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:4803400-4814600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:4803600-4810800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:4803800-4810400	Weak transcription	Small Intestine	intestine
11	chr6:4804600-4810800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:4804600-4812000	Weak transcription	Pancreas	Pancrea
13	chr6:4804600-4812200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:4804600-4812200	Weak transcription	HSMMtube	muscle
15	chr6:4806400-4812000	Weak transcription	Esophagus	oesophagus
16	chr6:4806400-4812000	Weak transcription	Gastric	stomach
17	chr6:4806400-4812600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:4806600-4810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:4806600-4812200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:4806800-4810400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:4806800-4814000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:4806800-4819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:4806800-4820200	Weak transcription	NHLF	lung
24	chr6:4806800-4820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:4807000-4812200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:4807000-4817400	Weak transcription	Brain Anterior Caudate	brain
28	chr6:4807000-4821200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:4807200-4810400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:4807200-4810400	Weak transcription	Fetal Heart	heart
31	chr6:4807200-4810400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:4807200-4810800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:4807200-4810800	Weak transcription	Spleen	Spleen
34	chr6:4807200-4819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:4807200-4827800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:4807400-4810400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:4807400-4810400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:4807400-4810400	Weak transcription	Psoas Muscle	Psoas
39	chr6:4807400-4810400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:4807400-4810400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:4807400-4810600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:4807400-4810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:4807400-4810800	Weak transcription	Colonic Mucosa	Colon
44	chr6:4807400-4810800	Weak transcription	Left Ventricle	heart
45	chr6:4807400-4810800	Weak transcription	Lung	lung
46	chr6:4807400-4810800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:4807400-4811000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr6:4807400-4811200	Weak transcription	Right Ventricle	heart
49	chr6:4807400-4812000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:4807400-4812000	Weak transcription	Right Atrium	heart

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