Variant report

Variant	rs73265491
Chromosome Location	chr5:115163994-115163995
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	chr5:115156222..115160428-chr5:115162227..115164620,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10036657	1.00[EUR][1000 genomes]
rs10052079	1.00[EUR][1000 genomes]
rs10054972	1.00[EUR][1000 genomes]
rs10058994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10059199	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10067222	1.00[EUR][1000 genomes]
rs10070325	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10074061	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10074066	1.00[EUR][1000 genomes]
rs10075816	1.00[EUR][1000 genomes]
rs10478262	1.00[EUR][1000 genomes]
rs10519428	1.00[EUR][1000 genomes]
rs10519429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11951965	0.88[AMR][1000 genomes]
rs11958544	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11959669	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12782	0.88[AMR][1000 genomes]
rs17138236	1.00[EUR][1000 genomes]
rs1968365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420368	1.00[EUR][1000 genomes]
rs4920893	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4920894	0.88[AMR][1000 genomes]
rs4921029	1.00[EUR][1000 genomes]
rs4921030	1.00[EUR][1000 genomes]
rs60326315	0.88[AMR][1000 genomes]
rs6861998	1.00[EUR][1000 genomes]
rs6872587	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6875708	1.00[EUR][1000 genomes]
rs73257802	1.00[EUR][1000 genomes]
rs73259615	0.88[AMR][1000 genomes]
rs73265480	1.00[EUR][1000 genomes]
rs73265501	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs73780683	1.00[EUR][1000 genomes]
rs9326975	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9654524	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115152800-115171200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:115153200-115169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:115153400-115164400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:115153400-115164400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:115153600-115172400	Weak transcription	Fetal Brain Male	brain
6	chr5:115154400-115169600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:115154600-115173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:115154800-115169200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:115155000-115164000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:115155000-115169200	Weak transcription	Brain Anterior Caudate	brain
11	chr5:115155000-115169800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:115155000-115174400	Weak transcription	Fetal Heart	heart
13	chr5:115155200-115167200	Weak transcription	Brain Substantia Nigra	brain
14	chr5:115155200-115169400	Weak transcription	Brain Germinal Matrix	brain
15	chr5:115157600-115171000	Weak transcription	Thymus	Thymus
16	chr5:115159000-115169000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:115159200-115164200	Weak transcription	HUVEC	blood vessel
18	chr5:115160000-115169600	Weak transcription	Psoas Muscle	Psoas
19	chr5:115160400-115164000	Weak transcription	Fetal Kidney	kidney
20	chr5:115160600-115164000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:115160600-115164000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:115160600-115169800	Weak transcription	Left Ventricle	heart
23	chr5:115160800-115164000	Weak transcription	NHLF	lung
24	chr5:115160800-115164200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:115160800-115164400	Weak transcription	Fetal Intestine Large	intestine
26	chr5:115161000-115164000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:115161000-115164400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:115161200-115164400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:115161200-115166200	Weak transcription	HMEC	breast
30	chr5:115161400-115164000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:115161400-115169600	Weak transcription	Ovary	ovary
32	chr5:115161800-115164000	Weak transcription	A549	lung
33	chr5:115161800-115164400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:115161800-115176200	Weak transcription	Gastric	stomach
35	chr5:115162000-115164000	Weak transcription	Osteobl	bone
36	chr5:115162000-115164200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:115162000-115164200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:115162000-115164400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:115162000-115164400	Weak transcription	Fetal Brain Female	brain
40	chr5:115162000-115165400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:115162000-115165400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:115162000-115166200	Weak transcription	Fetal Intestine Small	intestine
43	chr5:115162000-115174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:115162000-115176200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:115162000-115176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:115162200-115164000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr5:115162200-115164000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:115162200-115164000	Weak transcription	Fetal Lung	lung
49	chr5:115162200-115164000	Weak transcription	Dnd41	blood
50	chr5:115162200-115164200	Weak transcription	Rectal Mucosa Donor 31	rectum

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