Variant report

Variant	rs300937
Chromosome Location	chr4:144172526-144172527
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	chr4:144168813..144170939-chr4:144171270..144172929,2	K562	blood:
2	chr4:144171110..144173902-chr4:144193418..144195757,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10461277	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10461278	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10461279	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519679	1.00[EUR][1000 genomes]
rs1108827	0.95[EUR][1000 genomes]
rs11933189	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935914	0.83[ASN][1000 genomes]
rs11941742	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945672	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12711407	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105227	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111543	1.00[EUR][1000 genomes]
rs13113118	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130995	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13140326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141368	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141417	0.83[ASN][1000 genomes]
rs13142436	0.85[EUR][1000 genomes]
rs13145081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017424	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102494	0.83[ASN][1000 genomes]
rs28452225	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654139	0.83[ASN][1000 genomes]
rs28797214	0.83[ASN][1000 genomes]
rs28891127	0.83[ASN][1000 genomes]
rs300907	0.93[EUR][1000 genomes]
rs300932	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300933	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300942	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs300944	0.95[EUR][1000 genomes]
rs300945	0.95[EUR][1000 genomes]
rs300950	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs34176541	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34198661	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34225955	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461753	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34474130	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589296	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34652171	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34770317	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34780033	1.00[EUR][1000 genomes]
rs35021023	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35095943	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35143494	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35305979	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35416586	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35549285	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35607189	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35887480	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35909303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971728	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988039	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4554015	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4690751	0.83[ASN][1000 genomes]
rs4690772	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55693016	1.00[EUR][1000 genomes]
rs55846476	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56085707	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56142323	0.98[EUR][1000 genomes]
rs603861	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603934	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604746	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537143	0.83[ASN][1000 genomes]
rs6834491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850423	0.87[AFR][1000 genomes]
rs6853356	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857448	0.83[ASN][1000 genomes]
rs686770	0.90[EUR][1000 genomes]
rs71610408	0.83[ASN][1000 genomes]
rs71610420	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610422	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610423	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610426	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610427	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610428	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610429	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610431	0.95[EUR][1000 genomes]
rs71610432	0.95[EUR][1000 genomes]
rs726022	1.00[EUR][1000 genomes]
rs7655033	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661883	0.83[ASN][1000 genomes]
rs7670050	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7670426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9637656	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994551	0.83[ASN][1000 genomes]
rs9997167	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144156200-144172600	Weak transcription	Right Atrium	heart
2	chr4:144163400-144172600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:144171600-144172600	Enhancers	Stomach Smooth Muscle	stomach
4	chr4:144171600-144172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:144171600-144173600	Enhancers	Fetal Stomach	stomach
6	chr4:144171800-144172600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:144171800-144172600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:144171800-144172800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:144171800-144172800	Enhancers	Colon Smooth Muscle	Colon
10	chr4:144171800-144172800	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:144171800-144173000	Enhancers	NHLF	lung
12	chr4:144171800-144174400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:144171800-144174600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:144171800-144174800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:144172000-144172600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:144172000-144172800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:144172000-144173600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:144172000-144173800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr4:144172000-144174800	Enhancers	HMEC	breast
20	chr4:144172200-144172600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:144172200-144174800	Enhancers	NHEK	skin
22	chr4:144172400-144173000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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