Variant report

Variant	rs10474631
Chromosome Location	chr5:79935899-79935900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79934758..79936666-chr5:79944561..79946409,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10052238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10057770	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10072026	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10077031	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10078190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213944	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10474632	0.86[EUR][1000 genomes]
rs10474634	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11742668	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11742720	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749051	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13355622	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56270084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6151599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151606	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151640	0.88[EUR][1000 genomes]
rs6151655	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453522	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67695365	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72765574	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765575	0.85[EUR][1000 genomes];1.00[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79906600-79949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:79912000-79938000	Weak transcription	Brain Anterior Caudate	brain
3	chr5:79912200-79948000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:79913200-79949000	Weak transcription	Spleen	Spleen
5	chr5:79913600-79949400	Weak transcription	Esophagus	oesophagus
6	chr5:79914200-79949400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:79915400-79949200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:79916200-79936200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:79916600-79949400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:79919000-79936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:79919600-79949200	Weak transcription	Colonic Mucosa	Colon
12	chr5:79919600-79949800	Weak transcription	Pancreas	Pancrea
13	chr5:79919800-79949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:79920200-79936400	Weak transcription	NHLF	lung
15	chr5:79920200-79949000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:79920200-79949000	Weak transcription	Stomach Mucosa	stomach
17	chr5:79921800-79936800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:79923000-79936600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:79923600-79939600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:79923600-79949800	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:79923800-79936200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:79924000-79936600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:79924200-79936200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:79924200-79936600	Weak transcription	Lung	lung
25	chr5:79924200-79949200	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:79924200-79949400	Weak transcription	Right Ventricle	heart
27	chr5:79924200-79949800	Weak transcription	Left Ventricle	heart
28	chr5:79924400-79945800	Strong transcription	Dnd41	blood
29	chr5:79924400-79949200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:79924600-79940000	Weak transcription	Fetal Heart	heart
31	chr5:79924800-79943000	Weak transcription	Brain Germinal Matrix	brain
32	chr5:79925000-79938600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:79925000-79946200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:79925200-79939400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:79925200-79945600	Strong transcription	Fetal Thymus	thymus
36	chr5:79925200-79945800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:79925200-79948400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:79925200-79948600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:79925600-79936400	Weak transcription	HSMM	muscle
40	chr5:79925600-79949600	Weak transcription	HSMMtube	muscle
41	chr5:79925800-79936200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:79925800-79936400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:79925800-79939600	Weak transcription	HUVEC	blood vessel
44	chr5:79926000-79936200	Weak transcription	NHDF-Ad	bronchial
45	chr5:79926000-79942000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:79926600-79936200	Weak transcription	Psoas Muscle	Psoas
47	chr5:79926800-79945000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:79926800-79945800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:79927000-79938200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:79927200-79945000	Strong transcription	HMEC	breast

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