Variant report

Variant	rs17116414
Chromosome Location	chr5:154142540-154142541
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154026946..154029914-chr5:154142078..154144700,2	K562	blood:
2	chr5:154034090..154035820-chr5:154141862..154143840,2	K562	blood:
3	chr5:154141399..154144040-chr5:154148555..154150698,2	MCF-7	breast:
4	chr5:154032703..154035820-chr5:154141862..154144774,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1035368	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12188828	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300	0.84[EUR][1000 genomes]
rs17116411	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116421	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116442	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17116534	0.85[EUR][1000 genomes]
rs180846	0.80[EUR][1000 genomes]
rs1974776	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1974777	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042168	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2112223	0.81[EUR][1000 genomes]
rs2161128	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2258437	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2396999	0.90[EUR][1000 genomes]
rs2431184	0.85[ASN][1000 genomes]
rs2544866	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2544874	0.85[EUR][1000 genomes]
rs2544875	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2544876	0.85[EUR][1000 genomes]
rs2544880	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2544884	0.80[EUR][1000 genomes]
rs2560063	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2644743	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2644744	0.81[EUR][1000 genomes]
rs2644746	0.80[EUR][1000 genomes]
rs2688186	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2688187	0.85[EUR][1000 genomes]
rs2688188	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2688189	0.85[EUR][1000 genomes]
rs2688190	0.85[EUR][1000 genomes]
rs2688191	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2688193	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2688198	0.85[EUR][1000 genomes]
rs2688199	0.82[EUR][1000 genomes]
rs2688200	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2688201	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2688206	0.85[EUR][1000 genomes]
rs2688208	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs348739	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs348748	0.80[EUR][1000 genomes]
rs348749	0.81[EUR][1000 genomes]
rs348750	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs348751	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs348752	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs348754	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs39614	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4354100	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs454161	0.85[ASN][1000 genomes]
rs4958771	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55770418	0.80[EUR][1000 genomes]
rs56374414	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58415346	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59525998	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59749917	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6873483	0.84[ASN][1000 genomes]
rs6879277	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6884416	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs702742	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73276742	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73280705	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7723269	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728194	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs816717	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs816718	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs816720	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs816722	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs816734	0.81[ASN][1000 genomes]
rs816743	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs960499	0.83[ASN][1000 genomes]
rs9942412	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154137800-154144000	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr5:154138000-154142600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr5:154138200-154146000	Weak transcription	Placenta	Placenta
4	chr5:154138200-154151400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:154138200-154156000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:154138400-154142600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:154138400-154142600	Enhancers	Fetal Heart	heart
8	chr5:154138400-154147800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:154138800-154142600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:154138800-154142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:154138800-154150000	Weak transcription	HSMM	muscle
12	chr5:154139000-154142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:154139000-154147200	Weak transcription	NH-A	brain
14	chr5:154139000-154149800	Weak transcription	NHLF	lung
15	chr5:154139200-154145600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:154139400-154145400	Weak transcription	Fetal Kidney	kidney
17	chr5:154139600-154143200	Enhancers	Right Atrium	heart
18	chr5:154139600-154148600	Weak transcription	Fetal Intestine Large	intestine
19	chr5:154139800-154148800	Weak transcription	Fetal Brain Male	brain
20	chr5:154140000-154145800	Weak transcription	Fetal Stomach	stomach
21	chr5:154140200-154149200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:154140400-154142600	Enhancers	Brain Substantia Nigra	brain
23	chr5:154140800-154146000	Weak transcription	NHDF-Ad	bronchial
24	chr5:154141000-154142600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr5:154141000-154144400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:154141000-154144800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:154141000-154145600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:154141000-154145600	Weak transcription	Osteobl	bone
29	chr5:154141000-154145800	Weak transcription	Fetal Lung	lung
30	chr5:154141000-154148000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:154141000-154150000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:154141200-154143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:154141200-154144400	Weak transcription	Spleen	Spleen
34	chr5:154141200-154144600	Weak transcription	Gastric	stomach
35	chr5:154141200-154144600	Weak transcription	Small Intestine	intestine
36	chr5:154141200-154144800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:154141200-154145400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:154141200-154145600	Weak transcription	NHEK	skin
39	chr5:154141200-154145800	Weak transcription	HMEC	breast
40	chr5:154141200-154146800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:154141200-154148800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:154141200-154150600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:154141200-154151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:154141400-154142600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:154141400-154142600	Strong transcription	Hela-S3	cervix
46	chr5:154141400-154142800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:154141400-154142800	Weak transcription	Fetal Intestine Small	intestine
48	chr5:154141400-154143000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:154141400-154143000	Weak transcription	Dnd41	blood
50	chr5:154141400-154144400	Weak transcription	Fetal Thymus	thymus

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