Variant report

Variant	rs2972836
Chromosome Location	chr5:75571048-75571049
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75570576..75572089-chr5:75593353..75595843,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10942765	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13174383	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13188781	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469387	0.80[EUR][1000 genomes]
rs1863919	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1971744	0.80[EUR][1000 genomes]
rs1995381	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358710	0.98[ASN][1000 genomes]
rs2358712	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246813	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs246814	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs246815	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2913252	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2913255	0.80[EUR][1000 genomes]
rs2913256	0.80[EUR][1000 genomes]
rs2913257	0.80[EUR][1000 genomes]
rs2913258	0.80[EUR][1000 genomes]
rs2913259	0.80[EUR][1000 genomes]
rs2913260	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2913262	0.80[EUR][1000 genomes]
rs2913265	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2937741	0.80[EUR][1000 genomes]
rs2937742	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2937743	0.80[EUR][1000 genomes]
rs2937744	0.80[EUR][1000 genomes]
rs2937745	0.80[EUR][1000 genomes]
rs2937746	0.80[EUR][1000 genomes]
rs2937747	0.80[EUR][1000 genomes]
rs2937748	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2937749	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2937750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2937751	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2937752	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972837	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972839	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972840	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972843	0.80[EUR][1000 genomes]
rs2972846	0.80[EUR][1000 genomes]
rs2972847	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2972848	0.80[EUR][1000 genomes]
rs2972849	0.80[EUR][1000 genomes]
rs2972850	0.80[EUR][1000 genomes]
rs2972853	0.84[EUR][1000 genomes]
rs31244	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34596551	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35764719	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35930860	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35966882	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35984318	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4352583	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4496693	0.96[ASN][1000 genomes]
rs4546360	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4566770	0.96[ASN][1000 genomes]
rs4566771	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4613682	0.96[ASN][1000 genomes]
rs6453213	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6453214	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67560206	0.86[EUR][1000 genomes]
rs67771044	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874435	0.96[ASN][1000 genomes]
rs6875731	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6876070	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6891108	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7730153	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv980979	chr5:75561934-75576226	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75557200-75574000	Weak transcription	Right Atrium	heart
2	chr5:75567800-75571600	Enhancers	Fetal Lung	lung
3	chr5:75569800-75571600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:75569800-75573400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:75569800-75576200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:75570000-75573800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:75570200-75571400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:75570600-75573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:75571000-75571400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:75571000-75572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:75571000-75573400	Weak transcription	Primary hematopoietic stem cells	blood

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