Variant report

Variant	rs59120082
Chromosome Location	chr6:13666292-13666293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
2	chr6:13614409..13618371-chr6:13665029..13668940,4	K562	blood:
3	chr6:13664552..13667065-chr6:13707492..13709174,2	MCF-7	breast:
4	chr6:13664693..13668460-chr6:13708038..13711894,3	K562	blood:
5	chr6:13635435..13638835-chr6:13664717..13667757,3	K562	blood:
6	chr6:13634147..13636935-chr6:13665092..13667757,2	K562	blood:

Variant related genes	Relation type
ENSG00000010017	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10948811	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11755634	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11970591	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1362520	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1573702	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071836	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2080415	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237092	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3846912	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3906327	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715455	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6458997	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6459003	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6459020	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459025	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6911121	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6915775	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6940759	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72829117	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831038	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7741241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7744218	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019422	chr6:13622143-13694781	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1026597	chr6:13634669-13689882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13620600-13691000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:13626600-13667800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:13626800-13669000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:13639400-13667200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:13639800-13669800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:13645200-13666800	Weak transcription	HMEC	breast
7	chr6:13652400-13669600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:13652600-13667800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:13652600-13669800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:13653000-13674600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:13654600-13689800	Weak transcription	Osteobl	bone
12	chr6:13655400-13666800	Weak transcription	Stomach Mucosa	stomach
13	chr6:13655400-13677000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:13657000-13680200	Weak transcription	HSMM	muscle
15	chr6:13657400-13666800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:13657600-13670400	Weak transcription	Dnd41	blood
17	chr6:13658000-13666800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:13658800-13670200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:13659200-13670400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:13659600-13669000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:13659800-13670200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:13660000-13670000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:13660200-13670000	Enhancers	HepG2	liver
24	chr6:13660400-13669800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:13660400-13670000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:13660400-13670000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:13660800-13666800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:13660800-13666800	Weak transcription	Left Ventricle	heart
29	chr6:13660800-13667800	Weak transcription	Ovary	ovary
30	chr6:13660800-13674800	Weak transcription	Lung	lung
31	chr6:13660800-13675400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:13660800-13688000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:13661400-13666800	Weak transcription	Right Ventricle	heart
34	chr6:13661400-13669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:13661400-13669800	Weak transcription	Pancreas	Pancrea
36	chr6:13661600-13667200	Weak transcription	Fetal Heart	heart
37	chr6:13661600-13672800	Weak transcription	Brain Angular Gyrus	brain
38	chr6:13661600-13678600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:13662600-13669200	Enhancers	Hela-S3	cervix
40	chr6:13662600-13670200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr6:13663000-13666800	Weak transcription	NHEK	skin
42	chr6:13663000-13669800	Weak transcription	Esophagus	oesophagus
43	chr6:13663000-13672200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:13663000-13674800	Weak transcription	Gastric	stomach
45	chr6:13663200-13667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:13663200-13669000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:13663200-13674800	Weak transcription	Aorta	Aorta
48	chr6:13663200-13678200	Weak transcription	Small Intestine	intestine
49	chr6:13663400-13668600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:13663400-13672200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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