Variant report

Variant	rs230939
Chromosome Location	chr17:15132217-15132218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15130830..15132706-chr17:15134137..15135681,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13422	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs179520	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1860295	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs192046	0.97[EUR][1000 genomes]
rs230913	0.83[AMR][1000 genomes]
rs230914	0.82[EUR][1000 genomes]
rs230931	0.95[EUR][1000 genomes]
rs230934	0.97[EUR][1000 genomes]
rs230935	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230936	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230937	0.97[EUR][1000 genomes]
rs230941	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs230942	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs230943	0.96[EUR][1000 genomes]
rs230944	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs230946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs230947	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs230949	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230950	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2531951	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][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	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15124000-15136000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:15124200-15132400	Weak transcription	Ovary	ovary
3	chr17:15124200-15132400	Weak transcription	HSMMtube	muscle
4	chr17:15124400-15132600	Weak transcription	Osteobl	bone
5	chr17:15127200-15132600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:15127800-15132600	Weak transcription	Aorta	Aorta
7	chr17:15128000-15132800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:15128600-15132600	Weak transcription	Fetal Heart	heart
9	chr17:15128800-15133400	Weak transcription	NH-A	brain
10	chr17:15129200-15132400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:15130200-15132400	Weak transcription	NHLF	lung
12	chr17:15130400-15132800	Weak transcription	Fetal Lung	lung
13	chr17:15130600-15132400	Weak transcription	HUVEC	blood vessel
14	chr17:15130600-15135000	Weak transcription	Spleen	Spleen
15	chr17:15130600-15135600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:15130600-15135600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:15130800-15132400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:15130800-15132600	Weak transcription	Brain Anterior Caudate	brain
19	chr17:15130800-15132600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:15131000-15132600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr17:15131000-15132600	Weak transcription	Gastric	stomach
22	chr17:15131000-15132600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr17:15131000-15132800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr17:15131000-15132800	Weak transcription	A549	lung
25	chr17:15131000-15133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:15131000-15134200	Strong transcription	HSMM	muscle
27	chr17:15131200-15132800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:15131200-15132800	Weak transcription	Placenta	Placenta
29	chr17:15131200-15132800	Weak transcription	Psoas Muscle	Psoas
30	chr17:15131200-15132800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:15131200-15132800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:15131200-15134800	Weak transcription	Brain Angular Gyrus	brain
33	chr17:15131200-15141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:15131400-15132600	Weak transcription	Pancreas	Pancrea
35	chr17:15131400-15133000	Weak transcription	Brain Substantia Nigra	brain
36	chr17:15131400-15133200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:15131600-15133200	Weak transcription	Fetal Intestine Small	intestine
38	chr17:15131600-15134800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr17:15131600-15135800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:15131600-15135800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:15131600-15136000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:15131600-15136000	Strong transcription	Adipose Nuclei	Adipose
43	chr17:15131600-15138000	Genic enhancers	Right Ventricle	heart
44	chr17:15131600-15139600	Weak transcription	Liver	Liver
45	chr17:15131600-15145600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr17:15131800-15133400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr17:15131800-15134400	Strong transcription	Brain Hippocampus Middle	brain
48	chr17:15131800-15134800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:15131800-15134800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:15131800-15135600	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links