Variant report

Variant	rs4948628
Chromosome Location	chr10:44959181-44959182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44957944..44962326-chr10:44962653..44967528,5	K562	blood:
2	chr10:44958082..44960509-chr10:44962778..44964355,2	MCF-7	breast:
3	chr10:44959014..44962102-chr10:44962653..44965149,3	K562	blood:
4	chr10:44956453..44959425-chr10:44971550..44974365,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10900041	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900044	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10900045	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11239049	0.88[ASN][1000 genomes]
rs11239065	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1147920	0.94[EUR][1000 genomes]
rs1147922	0.92[EUR][1000 genomes]
rs1147925	0.94[EUR][1000 genomes]
rs1147927	0.94[EUR][1000 genomes]
rs1147933	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1147934	0.94[EUR][1000 genomes]
rs1147937	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1147938	0.94[EUR][1000 genomes]
rs1147939	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1147944	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1147956	0.85[EUR][1000 genomes]
rs1147958	0.97[EUR][1000 genomes]
rs1147960	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1147963	0.97[EUR][1000 genomes]
rs1147965	0.97[EUR][1000 genomes]
rs1253711	0.97[EUR][1000 genomes]
rs1253712	0.97[EUR][1000 genomes]
rs1253725	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1253727	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1253737	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1253738	0.94[EUR][1000 genomes]
rs1253740	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1253741	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1253744	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1253746	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1253748	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1253944	0.89[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs1270503	0.94[EUR][1000 genomes]
rs1334315	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1413517	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1413518	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573237	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1631775	0.89[EUR][1000 genomes]
rs1779360	0.94[EUR][1000 genomes]
rs1779361	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2785120	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2785121	0.94[EUR][1000 genomes]
rs4948629	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883366	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs883367	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs915084	0.93[EUR][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	nsv895101	chr10:44909081-45007131	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44954600-44959200	Weak transcription	NHDF-Ad	bronchial
2	chr10:44955400-44961000	Weak transcription	Fetal Stomach	stomach
3	chr10:44955800-44960800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:44955800-44968400	Weak transcription	Psoas Muscle	Psoas
5	chr10:44955800-44971800	Weak transcription	Right Atrium	heart
6	chr10:44956400-44959800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr10:44956600-44970400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:44957800-44959200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:44957800-44960000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:44958000-44959400	Enhancers	Fetal Muscle Leg	muscle
11	chr10:44958000-44959800	Enhancers	Osteobl	bone
12	chr10:44958600-44959800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:44958800-44959400	Enhancers	Brain Anterior Caudate	brain
14	chr10:44958800-44959400	Enhancers	Brain Substantia Nigra	brain
15	chr10:44958800-44959400	Enhancers	Fetal Lung	lung
16	chr10:44958800-44959600	Enhancers	Brain Hippocampus Middle	brain
17	chr10:44958800-44960000	Enhancers	Adipose Nuclei	Adipose
18	chr10:44958800-44960400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:44959000-44959200	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr10:44959000-44959400	Enhancers	Aorta	Aorta
21	chr10:44959000-44959600	Enhancers	Brain Angular Gyrus	brain
22	chr10:44959000-44959800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:44959000-44959800	Enhancers	Rectal Smooth Muscle	rectum

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