Variant report

Variant	rs62374961
Chromosome Location	chr5:61619251-61619252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61617006..61619910-chr5:61629943..61631558,2	K562	blood:
2	chr5:61618778..61621082-chr5:61622264..61624410,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1085103	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10939939	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11748930	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11952777	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957789	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653369	0.80[AMR][1000 genomes]
rs12654228	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12657535	0.80[AMR][1000 genomes]
rs12658601	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659777	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152185	0.81[EUR][1000 genomes]
rs152189	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs152190	0.89[EUR][1000 genomes]
rs153872	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs15807	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs166006	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs166007	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs166008	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs166009	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16890606	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16890659	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs183729	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs185048	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs193682	0.89[EUR][1000 genomes]
rs247219	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247224	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247226	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs247256	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247263	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247271	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247272	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs247274	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26612	0.81[EUR][1000 genomes]
rs3213940	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35008	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35009	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35014	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35015	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35016	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs464058	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56095217	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57534920	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57835221	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58057332	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58266302	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59420453	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59629988	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60468842	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60803657	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62365304	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62374960	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449596	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449597	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6864382	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6871913	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6882514	0.80[AMR][1000 genomes]
rs6886044	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6887181	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6894270	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6898615	0.80[AMR][1000 genomes]
rs7704066	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7718580	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs784900	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs784901	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs784902	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62374961	KIF2A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603200-61629200	Weak transcription	Lung	lung
2	chr5:61603200-61629200	Weak transcription	Spleen	Spleen
3	chr5:61603400-61625200	Weak transcription	Stomach Mucosa	stomach
4	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
5	chr5:61603600-61622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:61603600-61622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:61603600-61629200	Weak transcription	Psoas Muscle	Psoas
8	chr5:61603800-61629200	Weak transcription	Left Ventricle	heart
9	chr5:61604000-61622200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:61604000-61622200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:61604000-61622200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:61604000-61629000	Weak transcription	Thymus	Thymus
13	chr5:61604400-61627000	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:61604400-61629200	Weak transcription	Esophagus	oesophagus
15	chr5:61604400-61629400	Weak transcription	Pancreas	Pancrea
16	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:61604600-61630000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:61604600-61658600	Weak transcription	Fetal Kidney	kidney
19	chr5:61606600-61619600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:61606800-61629400	Weak transcription	Fetal Thymus	thymus
21	chr5:61607200-61625000	Weak transcription	Fetal Brain Female	brain
22	chr5:61607200-61627200	Weak transcription	Fetal Lung	lung
23	chr5:61607200-61629200	Weak transcription	HSMMtube	muscle
24	chr5:61607800-61669400	Weak transcription	NHLF	lung
25	chr5:61608000-61623800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:61608800-61620800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:61608800-61622200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:61608800-61623600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:61608800-61625000	Weak transcription	HSMM	muscle
30	chr5:61610200-61658600	Weak transcription	Ovary	ovary
31	chr5:61610400-61629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:61611000-61622600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:61611400-61629200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:61611600-61622200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:61611600-61630200	Weak transcription	Fetal Intestine Large	intestine
36	chr5:61611600-61639000	Weak transcription	HMEC	breast
37	chr5:61611600-61643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:61611800-61630000	Weak transcription	NHEK	skin
39	chr5:61612000-61622200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:61612000-61642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:61612000-61661000	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:61612200-61622400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:61612200-61628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:61612400-61623200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:61612400-61624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:61613600-61620000	Weak transcription	GM12878-XiMat	blood
47	chr5:61614600-61629000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:61615400-61621600	Weak transcription	Brain Angular Gyrus	brain
49	chr5:61615400-61623600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:61615600-61622000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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