Variant report

Variant	rs61050785
Chromosome Location	chr17:17839829-17839830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17835824..17837340-chr17:17839112..17841856,2	K562	blood:
2	chr17:17835824..17837359-chr17:17839112..17843100,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs16960767	1.00[AMR][1000 genomes]
rs16960818	1.00[AMR][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160247	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56232485	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	1.00[AMR][1000 genomes]
rs57134764	1.00[EUR][1000 genomes]
rs57277459	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58116638	1.00[EUR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58970292	1.00[EUR][1000 genomes]
rs61060916	1.00[AMR][1000 genomes]
rs61188141	1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	1.00[AMR][1000 genomes]
rs73299861	1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	1.00[AMR][1000 genomes]
rs73303812	1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	1.00[AMR][1000 genomes]
rs73303840	1.00[EUR][1000 genomes]
rs73303844	1.00[EUR][1000 genomes]
rs73303854	1.00[AMR][1000 genomes]
rs73303856	1.00[AMR][1000 genomes]
rs73303857	1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8067146	1.00[EUR][1000 genomes]
rs8068860	1.00[EUR][1000 genomes]
rs8078368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078811	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9914362	1.00[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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17827200-17840400	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
3	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:17830800-17840600	Weak transcription	Fetal Thymus	thymus
5	chr17:17832400-17843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:17832800-17843600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr17:17833000-17843600	Weak transcription	Fetal Stomach	stomach
8	chr17:17833400-17840600	Weak transcription	Fetal Muscle Leg	muscle
9	chr17:17833600-17840600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:17835000-17843800	Weak transcription	Aorta	Aorta
11	chr17:17836400-17840600	Enhancers	NHLF	lung
12	chr17:17836400-17841400	Enhancers	HSMMtube	muscle
13	chr17:17836400-17841800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr17:17836400-17841800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr17:17836400-17842000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr17:17836400-17842600	Enhancers	NHDF-Ad	bronchial
17	chr17:17836400-17853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:17836600-17846600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr17:17836800-17841000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:17836800-17841800	Enhancers	NH-A	brain
21	chr17:17836800-17842600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:17836800-17842600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:17836800-17843800	Enhancers	Osteobl	bone
24	chr17:17836800-17846000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:17837000-17845400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:17837400-17841400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr17:17837400-17842400	Enhancers	Brain Anterior Caudate	brain
28	chr17:17837400-17842600	Enhancers	Brain Hippocampus Middle	brain
29	chr17:17837400-17847800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:17837600-17840400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:17837600-17841600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:17837600-17841600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:17837600-17841800	Enhancers	Lung	lung
34	chr17:17837600-17842000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr17:17837600-17842400	Enhancers	Left Ventricle	heart
36	chr17:17837600-17842600	Enhancers	Placenta	Placenta
37	chr17:17837800-17844000	Enhancers	Fetal Heart	heart
38	chr17:17837800-17847600	Enhancers	HMEC	breast
39	chr17:17838000-17840600	Enhancers	Hela-S3	cervix
40	chr17:17838000-17841000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:17838000-17841800	Enhancers	Brain Angular Gyrus	brain
42	chr17:17838000-17842600	Enhancers	Brain Substantia Nigra	brain
43	chr17:17838000-17844400	Enhancers	Fetal Intestine Large	intestine
44	chr17:17838000-17845000	Enhancers	Right Ventricle	heart
45	chr17:17838000-17848600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr17:17838200-17841000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr17:17838200-17841400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr17:17838200-17841600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:17838200-17841600	Enhancers	Pancreas	Pancrea
50	chr17:17838200-17841600	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links