Variant report

Variant	rs73782560
Chromosome Location	chr5:124317655-124317656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124314982..124317852-chr5:124324896..124327856,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-43D2.2.1-10	chr5:124315897-124317909	XLOC_004536

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12515229	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12515871	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2408227	0.80[AMR][1000 genomes]
rs34105150	0.80[AMR][1000 genomes]
rs35879477	0.80[AMR][1000 genomes]
rs36088659	0.81[AMR][1000 genomes]
rs4441872	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4835849	0.81[AMR][1000 genomes]
rs4835850	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62372824	0.81[AMR][1000 genomes]
rs6861554	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6868443	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6890814	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7444060	0.80[AMR][1000 genomes]
rs7701094	0.93[AMR][1000 genomes];0.97[EUR][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124314400-124318400	Enhancers	Stomach Mucosa	stomach
2	chr5:124314400-124318600	Enhancers	Fetal Intestine Small	intestine
3	chr5:124314600-124318000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:124314600-124318400	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:124314600-124318400	Enhancers	Fetal Intestine Large	intestine
6	chr5:124314800-124318000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:124314800-124318400	Enhancers	Dnd41	blood
8	chr5:124315000-124318400	Enhancers	Primary B cells from cord blood	blood
9	chr5:124315000-124319000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:124315200-124317800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:124316000-124318000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:124316200-124318400	Enhancers	HMEC	breast
13	chr5:124316400-124318400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:124316400-124318400	Enhancers	NHEK	skin
15	chr5:124316800-124318000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:124316800-124318000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:124316800-124318000	Enhancers	Brain Germinal Matrix	brain
18	chr5:124316800-124318200	Enhancers	GM12878-XiMat	blood
19	chr5:124317000-124318200	Enhancers	Pancreas	Pancrea
20	chr5:124317200-124318000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:124317200-124318000	Enhancers	Small Intestine	intestine
22	chr5:124317200-124318200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:124317200-124318200	Enhancers	Gastric	stomach
24	chr5:124317200-124318400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:124317200-124318400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:124317200-124318600	Enhancers	Duodenum Mucosa	Duodenum
27	chr5:124317200-124319200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:124317200-124319600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:124317200-124320000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:124317400-124317800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:124317400-124317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:124317400-124318000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:124317400-124318000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:124317400-124318000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:124317400-124318200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:124317400-124318400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:124317400-124318400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:124317400-124318400	Enhancers	HepG2	liver
39	chr5:124317400-124318800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:124317600-124317800	Enhancers	Fetal Kidney	kidney
41	chr5:124317600-124318200	Enhancers	Liver	Liver

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