Variant report

Variant	rs2854364
Chromosome Location	chr13:48970499-48970500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11840676	0.92[EUR][1000 genomes]
rs171989	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171991	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs174858	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs185587	0.92[EUR][1000 genomes]
rs198559	1.00[EUR][1000 genomes]
rs198560	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs198565	1.00[EUR][1000 genomes]
rs198566	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198567	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198572	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198573	1.00[EUR][1000 genomes]
rs198583	1.00[EUR][1000 genomes]
rs198587	1.00[EUR][1000 genomes]
rs198600	1.00[EUR][1000 genomes]
rs198601	1.00[EUR][1000 genomes]
rs198613	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198616	1.00[EUR][1000 genomes]
rs198617	1.00[EUR][1000 genomes]
rs198618	1.00[EUR][1000 genomes]
rs198626	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198628	1.00[EUR][1000 genomes]
rs198632	1.00[EUR][1000 genomes]
rs198636	1.00[EUR][1000 genomes]
rs2245534	0.92[EUR][1000 genomes]
rs2265777	0.92[EUR][1000 genomes]
rs2406932	0.92[EUR][1000 genomes]
rs2515668	0.92[EUR][1000 genomes]
rs2804082	1.00[EUR][1000 genomes]
rs2804084	1.00[EUR][1000 genomes]
rs2804085	1.00[EUR][1000 genomes]
rs2804086	1.00[EUR][1000 genomes]
rs2804087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804088	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804091	0.92[EUR][1000 genomes]
rs2804092	0.92[EUR][1000 genomes]
rs2854352	0.92[EUR][1000 genomes]
rs2854356	0.92[EUR][1000 genomes]
rs2854363	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854365	0.92[EUR][1000 genomes]
rs2984828	1.00[EUR][1000 genomes]
rs3020646	1.00[EUR][1000 genomes]
rs411661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs411862	1.00[EUR][1000 genomes]
rs4151590	0.92[EUR][1000 genomes]
rs416156	1.00[EUR][1000 genomes]
rs428431	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs443211	0.81[AFR][1000 genomes]
rs4587857	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4625624	0.92[EUR][1000 genomes]
rs547747	1.00[EUR][1000 genomes]
rs61507973	0.92[EUR][1000 genomes]
rs7318012	0.92[EUR][1000 genomes]
rs7990103	1.00[EUR][1000 genomes]
rs8001351	0.92[EUR][1000 genomes]
rs9285166	0.92[EUR][1000 genomes]
rs9316371	0.92[EUR][1000 genomes]
rs9332053	0.82[EUR][1000 genomes]
rs9332066	0.82[EUR][1000 genomes]
rs9332248	0.92[EUR][1000 genomes]
rs9332281	0.92[EUR][1000 genomes]
rs9562817	1.00[EUR][1000 genomes]
rs9591153	0.92[EUR][1000 genomes]
rs9591154	0.92[EUR][1000 genomes]
rs9591155	0.92[EUR][1000 genomes]
rs9591163	1.00[EUR][1000 genomes]
rs9595872	0.91[EUR][1000 genomes]
rs9595894	1.00[EUR][1000 genomes]
rs9595909	1.00[EUR][1000 genomes]
rs9595910	1.00[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	esv1803998	chr13:48966078-48986320	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48909000-48972200	Weak transcription	NHEK	skin
2	chr13:48914800-48972000	Weak transcription	NHLF	lung
3	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
4	chr13:48920200-48974400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:48921600-48972000	Weak transcription	Stomach Mucosa	stomach
6	chr13:48925200-48974800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:48925400-48976400	Weak transcription	Ovary	ovary
8	chr13:48926800-48972000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:48928200-48971800	Weak transcription	A549	lung
10	chr13:48933400-48974000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:48934600-48984200	Weak transcription	Right Ventricle	heart
12	chr13:48936000-48974600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr13:48936400-48973200	Weak transcription	Hela-S3	cervix
14	chr13:48941800-48973200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:48943000-48970800	Weak transcription	Pancreas	Pancrea
16	chr13:48943600-48984200	Weak transcription	Brain Angular Gyrus	brain
17	chr13:48944000-48974400	Weak transcription	Brain Anterior Caudate	brain
18	chr13:48944200-48973800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:48944600-48983400	Weak transcription	Psoas Muscle	Psoas
20	chr13:48945000-48972000	Weak transcription	HSMMtube	muscle
21	chr13:48945400-48974400	Weak transcription	Small Intestine	intestine
22	chr13:48949400-48972800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:48953800-48972000	Weak transcription	Osteobl	bone
24	chr13:48954400-48972200	Weak transcription	HUVEC	blood vessel
25	chr13:48954800-48975000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:48955800-48972000	Weak transcription	HMEC	breast
27	chr13:48955800-48972000	Weak transcription	NHDF-Ad	bronchial
28	chr13:48956000-48974000	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:48956200-48976600	Weak transcription	Liver	Liver
30	chr13:48959800-48972200	Weak transcription	Adipose Nuclei	Adipose
31	chr13:48961000-48972000	Weak transcription	Fetal Lung	lung
32	chr13:48964000-48974400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr13:48965200-48974400	Weak transcription	Fetal Heart	heart
34	chr13:48966000-48971800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:48966200-48971600	Weak transcription	Aorta	Aorta
36	chr13:48966400-48974200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr13:48966400-48986000	Weak transcription	Lung	lung
38	chr13:48966800-48984200	Weak transcription	Placenta	Placenta
39	chr13:48967600-48974600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:48967800-48972000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr13:48967800-48972400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr13:48968000-48971200	Weak transcription	HepG2	liver
43	chr13:48968200-48972000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr13:48968200-48972800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:48968200-48976400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr13:48968400-48976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr13:48968600-48970600	Weak transcription	Brain Germinal Matrix	brain
48	chr13:48968800-48970800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr13:48968800-48972400	Weak transcription	Fetal Kidney	kidney
50	chr13:48968800-48974200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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