Variant report

Variant	rs59525998
Chromosome Location	chr5:154123593-154123594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154122459..154125303-chr5:154131772..154134458,2	MCF-7	breast:
2	chr5:154121511..154123647-chr5:154211048..154213983,2	K562	blood:
3	chr5:154121676..154125151-chr5:154126453..154128268,3	MCF-7	breast:
4	chr5:154086664..154088474-chr5:154121658..154123689,2	K562	blood:
5	chr5:154122102..154124283-chr5:154126461..154129527,4	K562	blood:
6	chr5:154121264..154124038-chr5:154128528..154131681,3	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1035368	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11167705	0.81[ASN][1000 genomes]
rs12188828	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12300	0.86[EUR][1000 genomes]
rs17116411	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17116414	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17116421	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17116442	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17116534	0.87[EUR][1000 genomes]
rs180846	0.83[EUR][1000 genomes]
rs1974776	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1974777	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2042168	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2112223	0.84[EUR][1000 genomes]
rs2161128	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2258437	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2396999	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2431184	0.89[ASN][1000 genomes]
rs2544860	0.81[ASN][1000 genomes]
rs2544866	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544874	0.87[EUR][1000 genomes]
rs2544875	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544876	0.87[EUR][1000 genomes]
rs2544880	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544884	0.83[EUR][1000 genomes]
rs255529	0.82[ASN][1000 genomes]
rs2560063	0.86[EUR][1000 genomes]
rs2644743	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2644744	0.84[EUR][1000 genomes]
rs2644746	0.83[EUR][1000 genomes]
rs2688186	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2688187	0.87[EUR][1000 genomes]
rs2688188	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2688189	0.87[EUR][1000 genomes]
rs2688190	0.87[EUR][1000 genomes]
rs2688191	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2688193	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2688195	0.81[EUR][1000 genomes]
rs2688198	0.87[EUR][1000 genomes]
rs2688199	0.85[EUR][1000 genomes]
rs2688200	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2688201	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2688206	0.87[EUR][1000 genomes]
rs2688208	0.86[EUR][1000 genomes]
rs348739	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348748	0.83[EUR][1000 genomes]
rs348749	0.84[EUR][1000 genomes]
rs348750	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348751	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348752	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348754	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs39614	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4354100	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs454161	0.89[ASN][1000 genomes]
rs4958771	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55770418	0.83[EUR][1000 genomes]
rs56374414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58415346	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59749917	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6873483	0.81[ASN][1000 genomes]
rs6879277	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6884416	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs702742	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73276742	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280705	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7723269	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7728194	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs816717	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs816718	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs816720	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs816722	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs816734	0.84[ASN][1000 genomes]
rs816743	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs960499	0.86[ASN][1000 genomes]
rs9942412	0.84[AMR][1000 genomes];0.91[EUR][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	nsv1021153	chr5:154099869-154147970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154107200-154133200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:154112200-154123600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:154116200-154132400	Weak transcription	Fetal Intestine Small	intestine
4	chr5:154117800-154123600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:154117800-154123600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:154117800-154128600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:154117800-154133000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:154118000-154123600	Weak transcription	HepG2	liver
9	chr5:154118000-154133000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:154119600-154133400	Weak transcription	Lung	lung
11	chr5:154120000-154123600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:154121000-154130200	Weak transcription	Liver	Liver
13	chr5:154121000-154132800	Weak transcription	Psoas Muscle	Psoas
14	chr5:154121200-154123600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:154121200-154123600	Weak transcription	Right Ventricle	heart
16	chr5:154121200-154125600	Weak transcription	Brain Anterior Caudate	brain
17	chr5:154121200-154125800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:154121200-154125800	Weak transcription	Brain Substantia Nigra	brain
19	chr5:154121200-154128600	Weak transcription	Right Atrium	heart
20	chr5:154121200-154128800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:154121200-154128800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:154121200-154132600	Weak transcription	Gastric	stomach
23	chr5:154121200-154132800	Weak transcription	Brain Angular Gyrus	brain
24	chr5:154121400-154125600	Weak transcription	Adipose Nuclei	Adipose
25	chr5:154121400-154125600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:154121400-154125800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:154121400-154127800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:154121600-154123600	Weak transcription	Stomach Mucosa	stomach
29	chr5:154121600-154132600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:154121800-154123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:154121800-154127400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:154122600-154133000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:154123200-154124200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:154123400-154123600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:154123400-154123800	Enhancers	Pancreas	Pancrea
36	chr5:154123400-154124000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:154123400-154124000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:154123400-154124000	Enhancers	K562	blood
39	chr5:154123400-154124400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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