Variant report

Variant	rs10474443
Chromosome Location	chr5:74980892-74980893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10045313	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10057461	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291631	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2307114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5744620	0.84[EUR][1000 genomes]
rs5744706	0.84[EUR][1000 genomes]
rs60739092	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6453139	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6865580	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6875480	0.82[ASN][1000 genomes]
rs6898032	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1797759	chr5:74973241-74984269	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
2	chr5:74961000-74987800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:74963000-74989800	Weak transcription	Esophagus	oesophagus
4	chr5:74964800-74989400	Weak transcription	HSMMtube	muscle
5	chr5:74965000-74983800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:74965000-74991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:74965000-74998000	Weak transcription	Fetal Brain Female	brain
8	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:74965400-74981000	Weak transcription	Lung	lung
10	chr5:74965400-74997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
14	chr5:74965600-74998200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:74965600-74998200	Weak transcription	Fetal Heart	heart
16	chr5:74965600-75010400	Weak transcription	Gastric	stomach
17	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
18	chr5:74965800-74991800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:74966000-74991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:74966000-74998400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:74967200-74989600	Weak transcription	Hela-S3	cervix
22	chr5:74968800-74983400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:74968800-74983800	Weak transcription	Placenta	Placenta
24	chr5:74968800-74998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:74969000-74991600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:74969400-74983200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:74970800-74981000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:74971000-74983400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:74971000-74985800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:74971000-74997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:74971200-74981000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:74971200-74981000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
34	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
35	chr5:74971800-74981000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:74972400-74981000	Weak transcription	Primary B cells from cord blood	blood
37	chr5:74972400-74983600	Weak transcription	GM12878-XiMat	blood
38	chr5:74972400-74985600	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:74972400-74985800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:74972600-74985400	Weak transcription	Left Ventricle	heart
41	chr5:74973600-74981000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:74974000-74983600	Weak transcription	HepG2	liver
43	chr5:74974200-74981000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:74974200-74982000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:74974400-74981000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:74974400-74981000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:74974400-74984600	Weak transcription	K562	blood
48	chr5:74974400-74997800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr5:74976600-74998200	Weak transcription	Colonic Mucosa	Colon
50	chr5:74977200-74981200	Weak transcription	HMEC	breast

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