Variant report

Variant	rs17819592
Chromosome Location	chr15:56978853-56978854
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	chr15:56977530..56979306-chr15:56981294..56983351,2	K562	blood:
2	chr15:56977163..56978891-chr15:56986559..56988342,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10518855	0.83[EUR][1000 genomes]
rs10518872	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1087705	0.94[EUR][1000 genomes]
rs11071285	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11071286	0.85[AMR][1000 genomes]
rs12437635	1.00[AFR][1000 genomes]
rs12437714	1.00[AFR][1000 genomes]
rs12437735	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12438377	0.89[EUR][1000 genomes]
rs12438572	1.00[AFR][1000 genomes]
rs12438728	1.00[EUR][1000 genomes]
rs12439116	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439563	1.00[EUR][1000 genomes]
rs12439586	0.94[EUR][1000 genomes]
rs12439697	0.89[EUR][1000 genomes]
rs12440006	1.00[EUR][1000 genomes]
rs12440725	1.00[AFR][1000 genomes]
rs12440891	1.00[AFR][1000 genomes]
rs12441746	0.95[EUR][1000 genomes]
rs12441769	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12441792	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12442069	0.89[EUR][1000 genomes]
rs12442630	1.00[AFR][1000 genomes]
rs12442642	1.00[AFR][1000 genomes]
rs12442662	1.00[AFR][1000 genomes]
rs12443178	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12903143	1.00[EUR][1000 genomes]
rs12907983	1.00[EUR][1000 genomes]
rs1364541	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1529597	1.00[AFR][1000 genomes]
rs1564557	0.85[EUR][1000 genomes]
rs1586022	0.89[EUR][1000 genomes]
rs1600829	1.00[EUR][1000 genomes]
rs1600831	0.95[EUR][1000 genomes]
rs1631905	0.89[EUR][1000 genomes]
rs1647386	0.89[EUR][1000 genomes]
rs1647391	0.89[EUR][1000 genomes]
rs16977123	0.89[EUR][1000 genomes]
rs17238859	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17238880	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17238894	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17238901	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17238950	1.00[AFR][1000 genomes]
rs17819616	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17819646	1.00[AFR][1000 genomes]
rs1834199	1.00[EUR][1000 genomes]
rs2052641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2161935	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2170461	0.89[EUR][1000 genomes]
rs2170462	0.94[EUR][1000 genomes]
rs2459565	0.94[EUR][1000 genomes]
rs2676178	0.94[EUR][1000 genomes]
rs2676181	0.94[EUR][1000 genomes]
rs2733231	0.89[EUR][1000 genomes]
rs2899599	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35813867	0.83[EUR][1000 genomes]
rs4287503	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4362334	1.00[AFR][1000 genomes]
rs4424865	1.00[AFR][1000 genomes]
rs4594195	0.89[EUR][1000 genomes]
rs4774869	0.89[EUR][1000 genomes]
rs4774885	1.00[EUR][1000 genomes]
rs480701	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6493888	1.00[EUR][1000 genomes]
rs7176472	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74015901	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8029710	0.90[EUR][1000 genomes]
rs966807	1.00[AFR][1000 genomes];0.89[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56916600-56990800	Weak transcription	Pancreas	Pancrea
2	chr15:56917800-56990600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:56917800-56990600	Weak transcription	NHLF	lung
4	chr15:56919800-57016600	Weak transcription	Small Intestine	intestine
5	chr15:56924000-56990600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:56924000-56990800	Weak transcription	NHEK	skin
7	chr15:56928400-56996800	Weak transcription	Gastric	stomach
8	chr15:56937400-57000200	Weak transcription	Colonic Mucosa	Colon
9	chr15:56939200-56990800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:56939400-56986000	Weak transcription	Brain Substantia Nigra	brain
11	chr15:56945800-56990800	Weak transcription	Fetal Brain Male	brain
12	chr15:56946000-56990800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:56946200-56990800	Weak transcription	Right Ventricle	heart
14	chr15:56955800-56990600	Weak transcription	Esophagus	oesophagus
15	chr15:56958000-56990200	Weak transcription	A549	lung
16	chr15:56958200-56990200	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:56958400-56990600	Weak transcription	Lung	lung
18	chr15:56958400-56990800	Weak transcription	Brain Germinal Matrix	brain
19	chr15:56958400-57019200	Weak transcription	Fetal Intestine Small	intestine
20	chr15:56958600-56990600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:56959200-56990400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:56959200-56990600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:56959200-56990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:56959200-56990600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:56959200-56992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:56959400-56986000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:56960800-56992000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:56961200-56990600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:56961200-56992200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:56965600-56990800	Weak transcription	K562	blood
31	chr15:56967000-56990800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:56967600-56990600	Weak transcription	Left Ventricle	heart
33	chr15:56968400-56990600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:56968400-56992000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:56968400-56992000	Weak transcription	HSMMtube	muscle
36	chr15:56968600-56990000	Weak transcription	NH-A	brain
37	chr15:56968800-56990000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:56968800-56990200	Weak transcription	Osteobl	bone
39	chr15:56969000-56990800	Weak transcription	HMEC	breast
40	chr15:56969200-56979800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr15:56969400-56990200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:56969400-56990400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:56969400-56990800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:56969600-56990200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:56969600-56990200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr15:56969800-56979400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:56969800-56980200	Weak transcription	Fetal Intestine Large	intestine
48	chr15:56969800-56984000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:56969800-56990200	Weak transcription	Primary B cells from cord blood	blood
50	chr15:56969800-56990600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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