Variant report

Variant	rs60453462
Chromosome Location	chr1:73532125-73532126
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	chr1:73529446..73532358-chr1:73537897..73540448,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10890001	0.96[ASN][1000 genomes]
rs10890002	0.92[ASN][1000 genomes]
rs11210090	0.86[ASN][1000 genomes]
rs11210093	0.88[ASN][1000 genomes]
rs11210116	0.96[ASN][1000 genomes]
rs12041212	0.82[ASN][1000 genomes]
rs1358033	0.82[ASN][1000 genomes]
rs17093667	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2177839	0.82[ASN][1000 genomes]
rs2692845	0.82[ASN][1000 genomes]
rs2692849	0.82[ASN][1000 genomes]
rs3001406	0.86[ASN][1000 genomes]
rs4292906	0.86[ASN][1000 genomes]
rs4342807	0.88[ASN][1000 genomes]
rs4344271	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4396073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4649970	0.86[ASN][1000 genomes]
rs55693193	0.81[ASN][1000 genomes]
rs55710119	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55711267	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55811940	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55871113	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56073791	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56118919	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56355427	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361235	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56393511	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56681081	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742425	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996808	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57118574	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57135981	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57345656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57441389	0.83[ASN][1000 genomes]
rs57458135	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58252227	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58687178	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58759875	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58801081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59074407	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59112802	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59291669	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59381674	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59583546	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59603863	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59663011	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59674856	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60001238	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60262946	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60357441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60439400	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60711999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60715960	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60921218	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61003856	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61022613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61027335	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61029701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61071256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61094497	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61229063	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61262786	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61464284	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692856	0.86[ASN][1000 genomes]
rs74090509	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090513	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090514	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090526	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090527	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090532	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090533	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090534	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090535	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090538	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090540	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090541	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090543	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74090546	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74090547	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74090550	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74090553	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74090555	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74090556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74090557	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74090559	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74091214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091266	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091268	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091272	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091275	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091277	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091280	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091287	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091288	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091291	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091295	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091297	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091300	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091301	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091954	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74092376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74092377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74092379	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74092380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74092381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74092384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74092388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74092389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74092392	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74092393	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74092394	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74092400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74092402	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74092628	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74092629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74092630	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74092631	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74092632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74092633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74092634	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74092637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74094603	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74094604	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74094606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412164	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7412167	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7511969	0.96[ASN][1000 genomes]
rs7519779	0.96[ASN][1000 genomes]
rs7519879	0.96[ASN][1000 genomes]
rs7529186	0.94[ASN][1000 genomes]
rs7535137	0.86[ASN][1000 genomes]
rs7542800	0.96[ASN][1000 genomes]
rs9425114	0.86[ASN][1000 genomes]
rs9661859	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012319	chr1:73337418-73547086	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546568	chr1:73529275-73556846	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73530400-73532600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:73531000-73532400	Enhancers	Fetal Lung	lung
3	chr1:73531000-73532800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:73531000-73533600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:73531000-73534000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:73531200-73532600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:73531400-73533600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:73531600-73532200	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:73531600-73532600	Weak transcription	Fetal Stomach	stomach
10	chr1:73531800-73532400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:73531800-73532800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:73531800-73533000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:73531800-73533000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:73531800-73533000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:73531800-73533600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:73532000-73532800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:73532000-73533000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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