Variant report

Variant	rs9982663
Chromosome Location	chr21:45464898-45464899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45454985..45459889-chr21:45463803..45466700,4	K562	blood:
2	chr21:45454985..45457664-chr21:45464641..45466700,2	K562	blood:
3	chr21:45462776..45465739-chr21:45484700..45487223,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10854489	0.98[ASN][1000 genomes]
rs1131999	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13050630	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2020947	0.98[ASN][1000 genomes]
rs2020948	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071152	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071154	0.85[EUR][1000 genomes]
rs2156428	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2238704	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238705	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238706	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238707	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238708	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238709	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2238710	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238711	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238712	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243348	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2245372	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245380	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2245386	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245462	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245759	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2247400	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255716	0.87[ASN][1000 genomes]
rs2255828	0.83[ASN][1000 genomes]
rs2255922	0.85[ASN][1000 genomes]
rs2256392	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2256441	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276530	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277806	0.82[ASN][1000 genomes]
rs2299812	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299813	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299815	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2299816	0.87[EUR][1000 genomes]
rs2299818	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2299820	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838466	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2838467	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838468	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838471	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838472	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838473	0.95[ASN][1000 genomes]
rs2838474	0.92[ASN][1000 genomes]
rs2838476	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838477	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838478	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838480	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838481	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838482	0.87[ASN][1000 genomes]
rs2838483	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838485	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838486	0.84[ASN][1000 genomes]
rs28859288	0.89[ASN][1000 genomes]
rs35610725	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3788097	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788098	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788101	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3788102	0.87[EUR][1000 genomes]
rs4818878	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819366	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819370	0.81[ASN][1000 genomes]
rs56384549	0.91[ASN][1000 genomes]
rs59675192	0.87[EUR][1000 genomes]
rs7277269	0.81[ASN][1000 genomes]
rs7279727	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7281768	0.87[ASN][1000 genomes]
rs7281778	0.95[ASN][1000 genomes]
rs7282643	0.98[ASN][1000 genomes]
rs729882	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8126754	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8126958	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8129971	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8132918	0.81[ASN][1000 genomes]
rs8133422	0.92[ASN][1000 genomes]
rs8133610	0.81[ASN][1000 genomes]
rs915878	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9306169	0.87[EUR][1000 genomes]
rs9306171	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9306172	0.92[ASN][1000 genomes]
rs9306174	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs965733	0.80[EUR][1000 genomes]
rs9974165	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9974315	0.92[ASN][1000 genomes]
rs9975708	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9975978	0.87[ASN][1000 genomes]
rs9977564	0.82[ASN][1000 genomes]
rs9978130	0.95[ASN][1000 genomes]
rs9981257	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers 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	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9982663	PWP2	cis	Muscle Skeletal	GTEx
rs9982663	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445200-45471400	Weak transcription	Stomach Mucosa	stomach
2	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45445800-45471400	Weak transcription	Right Atrium	heart
4	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
5	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
7	chr21:45455000-45475600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:45455200-45469000	Weak transcription	Fetal Kidney	kidney
9	chr21:45455200-45469200	Weak transcription	Psoas Muscle	Psoas
10	chr21:45456000-45469000	Weak transcription	HUVEC	blood vessel
11	chr21:45457000-45468200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:45457600-45469200	Weak transcription	NH-A	brain
13	chr21:45457600-45474000	Weak transcription	A549	lung
14	chr21:45457800-45475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:45458000-45482800	Weak transcription	HMEC	breast
16	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr21:45458400-45469000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr21:45458800-45466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr21:45458800-45468000	Weak transcription	HSMMtube	muscle
21	chr21:45458800-45469000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:45458800-45471600	Weak transcription	Small Intestine	intestine
23	chr21:45459000-45470400	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:45459000-45471400	Weak transcription	Fetal Lung	lung
25	chr21:45459000-45474800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr21:45459000-45475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:45459200-45471600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr21:45459200-45471600	Weak transcription	NHDF-Ad	bronchial
29	chr21:45459200-45472400	Weak transcription	Brain Germinal Matrix	brain
30	chr21:45459400-45465800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr21:45459400-45466000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr21:45459400-45466200	Weak transcription	Colonic Mucosa	Colon
33	chr21:45459400-45466200	Weak transcription	Esophagus	oesophagus
34	chr21:45459400-45466400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr21:45459400-45466800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr21:45459400-45467400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr21:45459400-45467600	Weak transcription	Brain Substantia Nigra	brain
38	chr21:45459400-45467800	Weak transcription	Fetal Muscle Leg	muscle
39	chr21:45459400-45467800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr21:45459400-45468000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:45459400-45468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr21:45459400-45469000	Weak transcription	NHLF	lung
43	chr21:45459400-45469000	Weak transcription	Osteobl	bone
44	chr21:45459400-45469400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:45459400-45471600	Weak transcription	Gastric	stomach
46	chr21:45459400-45471800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:45459400-45472000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:45459400-45472800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr21:45459400-45473400	Weak transcription	HepG2	liver
50	chr21:45459400-45478000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links