Variant report

Variant	rs73362552
Chromosome Location	chr6:4802348-4802349
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4775144..4777679-chr6:4800698..4802605,2	MCF-7	breast:
2	chr6:4794303..4796795-chr6:4800543..4803644,3	MCF-7	breast:
3	chr6:4777710..4780092-chr6:4801744..4804702,2	K562	blood:
4	chr6:4774365..4776948-chr6:4800103..4802480,2	K562	blood:
5	chr6:4799940..4802712-chr6:4806836..4810096,3	K562	blood:
6	chr6:4800467..4802843-chr6:4809432..4811722,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236336	Chromatin interaction
ENSG00000153046	Chromatin interaction

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

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

rs_ID	r²[population]
rs1016878	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2875970	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57332003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58825791	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58938392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992102	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59019088	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362617	0.83[AMR][1000 genomes]
rs59469271	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59530044	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60161880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60469143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567289	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60650385	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61323400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61657419	0.83[AMR][1000 genomes]
rs73348304	1.00[AMR][1000 genomes]
rs73348324	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348337	1.00[AMR][1000 genomes]
rs73362531	1.00[AMR][1000 genomes]
rs73362537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362548	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364539	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364544	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364545	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364551	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364553	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364580	0.94[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4787400-4808800	Weak transcription	Aorta	Aorta
2	chr6:4790200-4803200	Weak transcription	Pancreas	Pancrea
3	chr6:4794800-4802600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:4794800-4803200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:4794800-4803200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:4794800-4803600	Weak transcription	Esophagus	oesophagus
7	chr6:4794800-4804400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:4794800-4818800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:4795000-4802600	Weak transcription	Right Ventricle	heart
10	chr6:4795000-4803000	Weak transcription	Left Ventricle	heart
11	chr6:4795000-4803200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:4795000-4803200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:4795000-4803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:4795000-4806200	Weak transcription	Gastric	stomach
15	chr6:4795200-4803400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:4795200-4803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:4795200-4806600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:4797400-4803200	Weak transcription	HSMM	muscle
19	chr6:4798000-4803200	Weak transcription	NHEK	skin
20	chr6:4798200-4803600	Weak transcription	Hela-S3	cervix
21	chr6:4798200-4803600	Weak transcription	NHLF	lung
22	chr6:4798400-4803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:4800000-4802400	Weak transcription	Ovary	ovary
24	chr6:4800000-4802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:4800000-4803200	Weak transcription	Spleen	Spleen
26	chr6:4800000-4810400	Weak transcription	Fetal Intestine Small	intestine
27	chr6:4800600-4802800	Flanking Active TSS	GM12878-XiMat	blood
28	chr6:4800800-4804000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:4801000-4802600	Enhancers	HepG2	liver
30	chr6:4801000-4802800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr6:4801000-4803800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:4801000-4805000	Enhancers	Primary B cells from peripheral blood	blood
33	chr6:4801000-4805600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:4801200-4802400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:4801200-4802400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:4801200-4802600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:4801200-4803600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:4801200-4804000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:4801400-4802400	Weak transcription	K562	blood
40	chr6:4801600-4802400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:4801600-4802600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:4801600-4803200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:4801600-4804800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr6:4801800-4802400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:4801800-4802400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr6:4801800-4802800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:4801800-4803400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:4801800-4803600	Enhancers	Primary T cells from cord blood	blood
49	chr6:4801800-4804000	Enhancers	Liver	Liver
50	chr6:4801800-4804000	Enhancers	Fetal Thymus	thymus

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