Variant report

Variant	rs58060521
Chromosome Location	chr6:88402483-88402484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88397239..88400435-chr6:88400607..88403655,3	K562	blood:
2	chr6:88389328..88391908-chr6:88402227..88405512,3	K562	blood:
3	chr6:88360758..88363835-chr6:88400530..88404540,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs16879704	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16879736	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28381470	0.81[EUR][1000 genomes]
rs28381475	0.81[EUR][1000 genomes]
rs28381530	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3763177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41273297	0.97[EUR][1000 genomes]
rs55909105	0.87[AFR][1000 genomes]
rs55985738	0.85[EUR][1000 genomes]
rs56400749	0.96[EUR][1000 genomes]
rs57573658	0.91[AFR][1000 genomes]
rs59131518	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59774543	0.97[EUR][1000 genomes]
rs60082015	0.93[EUR][1000 genomes]
rs60316099	0.86[EUR][1000 genomes]
rs66502414	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66588280	0.89[EUR][1000 genomes]
rs66965134	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67575319	0.89[EUR][1000 genomes]
rs67700862	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67956402	0.81[EUR][1000 genomes]
rs67993159	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68082038	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6907107	0.84[EUR][1000 genomes]
rs6932733	0.83[EUR][1000 genomes]
rs715207	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72906514	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72922577	0.81[EUR][1000 genomes]
rs72924341	0.96[AFR][1000 genomes]
rs72924342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498106	0.84[EUR][1000 genomes]
rs7747792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7748286	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7752473	0.84[EUR][1000 genomes]
rs7769144	0.84[EUR][1000 genomes]
rs7776049	0.89[EUR][1000 genomes]
rs9450782	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv2758068	chr6:88358988-88441473	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2759454	chr6:88358988-88441473	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88363000-88408200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:88387600-88407000	Weak transcription	Fetal Kidney	kidney
3	chr6:88388000-88410400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:88389200-88406800	Weak transcription	Fetal Stomach	stomach
5	chr6:88390400-88405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:88390400-88410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:88391000-88405200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:88392200-88405200	Weak transcription	Fetal Brain Male	brain
9	chr6:88392400-88407200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:88392400-88407400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:88392400-88407400	Weak transcription	Aorta	Aorta
12	chr6:88392600-88406800	Weak transcription	HSMM	muscle
13	chr6:88392600-88407200	Weak transcription	HMEC	breast
14	chr6:88393600-88402600	Weak transcription	Esophagus	oesophagus
15	chr6:88393600-88404000	Weak transcription	HUVEC	blood vessel
16	chr6:88393800-88405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:88395000-88407200	Weak transcription	Hela-S3	cervix
18	chr6:88396400-88405200	Weak transcription	Stomach Mucosa	stomach
19	chr6:88397600-88407000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:88397800-88403400	Enhancers	Left Ventricle	heart
21	chr6:88398800-88402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:88399000-88403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:88399000-88407400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:88399600-88403200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:88399600-88403400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:88399600-88403400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:88399600-88407400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr6:88399600-88408200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:88400000-88405600	Weak transcription	Fetal Intestine Small	intestine
30	chr6:88400200-88402800	Enhancers	Primary B cells from cord blood	blood
31	chr6:88400200-88402800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr6:88400200-88403200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:88400200-88406800	Weak transcription	NH-A	brain
34	chr6:88400400-88403600	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:88400400-88405400	Weak transcription	Dnd41	blood
36	chr6:88400600-88402800	Enhancers	Right Atrium	heart
37	chr6:88400600-88403000	Enhancers	Liver	Liver
38	chr6:88400800-88405600	Weak transcription	Gastric	stomach
39	chr6:88400800-88410000	Weak transcription	Lung	lung
40	chr6:88401000-88404400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:88401000-88408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:88401200-88406600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:88401400-88403000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:88401400-88403200	Enhancers	Psoas Muscle	Psoas
45	chr6:88401600-88404000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:88401600-88404400	Weak transcription	Brain Germinal Matrix	brain
47	chr6:88401800-88402800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:88401800-88403000	Weak transcription	Primary T cells from cord blood	blood
49	chr6:88401800-88403400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:88401800-88403600	Weak transcription	Fetal Heart	heart

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