Variant report

Variant	rs2477558
Chromosome Location	chr1:196252254-196252255
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	chr1:196244654..196246787-chr1:196249924..196252778,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10158703	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10922051	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11801881	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11804991	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12058062	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12060857	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12127589	0.84[EUR][1000 genomes]
rs12407653	0.82[EUR][1000 genomes]
rs1924755	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1924757	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1924759	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1925331	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1925332	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2025599	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2245414	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2477354	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2477356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2477357	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2477359	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2477361	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2477554	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4379659	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs533228	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs564157	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61659147	0.91[ASN][1000 genomes]
rs660711	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7544651	0.85[EUR][1000 genomes]
rs7547827	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7552975	0.85[EUR][1000 genomes]
rs912760	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9970935	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872952	chr1:196174790-196304223	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv548741	chr1:196186750-196293493	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832237	chr1:196205674-196328500	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	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	chr1:196234800-196255400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:196237000-196253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:196237200-196253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:196243200-196253600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:196244600-196272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:196247400-196252400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:196249200-196281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:196250200-196254000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:196250600-196258400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:196250800-196252600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:196250800-196255400	Weak transcription	Ovary	ovary
12	chr1:196250800-196271600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:196251000-196271600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:196251800-196255600	Weak transcription	Liver	Liver
15	chr1:196251800-196261400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:196252000-196252400	ZNF genes & repeats	Fetal Stomach	stomach
17	chr1:196252200-196272200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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