Variant report

Variant	rs247224
Chromosome Location	chr5:61663300-61663301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61662871..61665721-chr5:61681464..61684214,2	K562	blood:
2	chr5:61662283..61664182-chr5:61672693..61674594,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1085103	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10939939	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11748930	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11952777	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11957789	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12654228	0.82[EUR][1000 genomes]
rs12658601	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12659777	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs152185	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs152189	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs152190	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs153872	0.91[EUR][1000 genomes]
rs15807	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs166006	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166007	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs166008	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166009	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs168847	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16890659	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs183729	0.91[EUR][1000 genomes]
rs185048	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs193682	0.92[EUR][1000 genomes]
rs247219	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247226	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247256	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247263	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247271	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247272	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247274	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26612	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3213940	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35008	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35009	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35014	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35015	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35016	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs464058	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56095217	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57534920	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57835221	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58057332	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58266302	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59629988	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60468842	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62365304	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62374960	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62374961	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6449596	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6449597	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6864382	0.81[EUR][1000 genomes]
rs6886044	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7704066	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7718580	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs784900	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs784901	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs784902	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs247224	KIF2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61607800-61669400	Weak transcription	NHLF	lung
2	chr5:61622400-61676000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:61624000-61669600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:61629200-61676400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:61629600-61665000	Weak transcription	Esophagus	oesophagus
6	chr5:61631200-61669400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:61631200-61669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:61631200-61676000	Weak transcription	Lung	lung
9	chr5:61638600-61671200	Weak transcription	Small Intestine	intestine
10	chr5:61639800-61684200	Weak transcription	Psoas Muscle	Psoas
11	chr5:61641400-61682400	Weak transcription	Fetal Heart	heart
12	chr5:61642400-61665400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:61642400-61697400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:61642600-61688400	Weak transcription	Right Ventricle	heart
15	chr5:61642600-61696000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:61642600-61699200	Weak transcription	Gastric	stomach
17	chr5:61643000-61697000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:61643800-61666000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:61643800-61680600	Strong transcription	Placenta	Placenta
20	chr5:61644000-61671600	Weak transcription	Stomach Mucosa	stomach
21	chr5:61644000-61689000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:61645400-61689200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:61646800-61673800	Weak transcription	Fetal Brain Male	brain
24	chr5:61647000-61690000	Weak transcription	Spleen	Spleen
25	chr5:61647600-61698000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:61650000-61667800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:61651000-61666000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:61651200-61665400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:61653600-61665200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:61653600-61666000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:61656000-61665400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:61656200-61665200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:61656200-61698000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:61656800-61664200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr5:61656800-61687800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:61657000-61663400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr5:61657000-61663400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:61657000-61664200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:61657000-61664400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr5:61657000-61665800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:61657200-61663800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:61657800-61663600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:61658400-61664200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:61658400-61691800	Strong transcription	Dnd41	blood
45	chr5:61658600-61665400	Strong transcription	Hela-S3	cervix
46	chr5:61659200-61669400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:61659200-61669600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:61659200-61669600	Weak transcription	Aorta	Aorta
49	chr5:61659400-61665000	Weak transcription	Pancreas	Pancrea
50	chr5:61659800-61669200	Weak transcription	HUVEC	blood vessel

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