Variant report

Variant	rs73122755
Chromosome Location	chr5:74918905-74918906
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74913060..74915078-chr5:74915803..74919443,3	K562	blood:
2	chr5:74910178..74911723-chr5:74917267..74920194,2	K562	blood:
3	chr5:74912858..74914560-chr5:74917246..74919606,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11948350	0.94[EUR][1000 genomes]
rs11948442	0.94[EUR][1000 genomes]
rs11952534	0.94[EUR][1000 genomes]
rs11953173	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11953883	0.94[EUR][1000 genomes]
rs11955568	0.94[EUR][1000 genomes]
rs11955819	0.94[EUR][1000 genomes]
rs11956111	0.94[EUR][1000 genomes]
rs11956112	0.94[EUR][1000 genomes]
rs11956755	0.94[EUR][1000 genomes]
rs11960741	0.94[EUR][1000 genomes]
rs11960747	0.94[EUR][1000 genomes]
rs11960771	0.94[EUR][1000 genomes]
rs1422441	0.94[EUR][1000 genomes]
rs1489	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872590	1.00[EUR][1000 genomes]
rs16872661	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872677	0.94[EUR][1000 genomes]
rs16872683	0.94[EUR][1000 genomes]
rs16872693	0.94[EUR][1000 genomes]
rs1991450	0.94[EUR][1000 genomes]
rs2112348	0.94[EUR][1000 genomes]
rs2112349	0.89[EUR][1000 genomes]
rs2112350	0.94[EUR][1000 genomes]
rs4640773	0.88[EUR][1000 genomes]
rs56832737	0.94[EUR][1000 genomes]
rs57414757	0.94[EUR][1000 genomes]
rs5744617	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744720	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57531042	0.94[EUR][1000 genomes]
rs57670471	0.94[EUR][1000 genomes]
rs58216239	0.94[EUR][1000 genomes]
rs59427628	0.94[EUR][1000 genomes]
rs60385047	0.94[EUR][1000 genomes]
rs60609097	0.94[EUR][1000 genomes]
rs61516153	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6865606	0.94[EUR][1000 genomes]
rs6866607	0.82[EUR][1000 genomes]
rs6870090	0.94[EUR][1000 genomes]
rs6882452	0.94[EUR][1000 genomes]
rs6894068	0.94[EUR][1000 genomes]
rs6895148	0.94[EUR][1000 genomes]
rs73120804	0.94[EUR][1000 genomes]
rs73120805	0.94[EUR][1000 genomes]
rs73120807	0.94[EUR][1000 genomes]
rs73120811	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73120822	0.94[EUR][1000 genomes]
rs73120824	0.94[EUR][1000 genomes]
rs73120848	1.00[EUR][1000 genomes]
rs73120849	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120850	1.00[EUR][1000 genomes]
rs73122744	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73122770	0.94[EUR][1000 genomes]
rs73122771	0.94[EUR][1000 genomes]
rs73122772	0.94[EUR][1000 genomes]
rs73124734	0.94[EUR][1000 genomes]
rs73124747	0.94[EUR][1000 genomes]
rs73124750	0.94[EUR][1000 genomes]
rs7722940	0.82[EUR][1000 genomes]
rs7724771	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	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
5	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74907800-74921400	Weak transcription	Aorta	Aorta
2	chr5:74907800-74921400	Weak transcription	Lung	lung
3	chr5:74908200-74919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:74908200-74923600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:74908600-74920400	Enhancers	Fetal Intestine Small	intestine
6	chr5:74913800-74919800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:74913800-74921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:74913800-74921600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:74913800-74922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:74913800-74922800	Weak transcription	Ovary	ovary
11	chr5:74913800-74923600	Weak transcription	Esophagus	oesophagus
12	chr5:74913800-74923600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:74913800-74933600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:74914000-74919400	Weak transcription	HSMMtube	muscle
15	chr5:74914000-74919800	Weak transcription	Fetal Stomach	stomach
16	chr5:74914000-74923400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:74914000-74930800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:74914200-74919400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:74915000-74925800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:74915600-74921800	Enhancers	Stomach Mucosa	stomach
21	chr5:74915800-74920000	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:74916600-74931800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:74916800-74919600	Weak transcription	K562	blood
24	chr5:74917000-74919800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:74917000-74920000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:74917000-74923400	Weak transcription	Gastric	stomach
27	chr5:74917600-74920200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:74917800-74920000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:74917800-74920000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:74917800-74920200	Enhancers	HMEC	breast
31	chr5:74917800-74920400	Enhancers	Fetal Intestine Large	intestine
32	chr5:74918000-74920200	Enhancers	NHEK	skin
33	chr5:74918200-74919400	Enhancers	NH-A	brain
34	chr5:74918400-74919400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:74918400-74919400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:74918400-74919400	Enhancers	A549	lung
37	chr5:74918400-74919600	Weak transcription	Small Intestine	intestine
38	chr5:74918400-74944200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:74918600-74919200	Weak transcription	HSMM	muscle
40	chr5:74918800-74919800	Weak transcription	HepG2	liver
41	chr5:74918800-74920000	Weak transcription	Liver	Liver
42	chr5:74918800-74934000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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