Variant report

Variant	rs2854363
Chromosome Location	chr13:48967230-48967231
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48962225..48964484-chr13:48966549..48969073,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11840676	0.92[EUR][1000 genomes]
rs171989	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171991	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs174858	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs185587	0.92[EUR][1000 genomes]
rs198559	1.00[EUR][1000 genomes]
rs198560	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs198565	1.00[EUR][1000 genomes]
rs198566	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198567	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198572	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs198573	1.00[EUR][1000 genomes]
rs198580	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs198583	1.00[EUR][1000 genomes]
rs198587	1.00[EUR][1000 genomes]
rs198589	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs198600	1.00[EUR][1000 genomes]
rs198601	1.00[EUR][1000 genomes]
rs198613	0.97[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804088	0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804089	0.87[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]
rs2854364	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	0.88[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	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs443211	0.96[AFR][1000 genomes]
rs449151	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4587857	0.97[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48909000-48972200	Weak transcription	NHEK	skin
2	chr13:48912200-48968200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:48914800-48972000	Weak transcription	NHLF	lung
4	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
5	chr13:48920200-48974400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr13:48921600-48972000	Weak transcription	Stomach Mucosa	stomach
7	chr13:48925200-48974800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr13:48925400-48976400	Weak transcription	Ovary	ovary
9	chr13:48925600-48968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:48926800-48972000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:48928200-48971800	Weak transcription	A549	lung
12	chr13:48929800-48968400	Weak transcription	Esophagus	oesophagus
13	chr13:48933400-48974000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:48934600-48984200	Weak transcription	Right Ventricle	heart
15	chr13:48935400-48968200	Weak transcription	Spleen	Spleen
16	chr13:48936000-48974600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr13:48936200-48968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:48936400-48973200	Weak transcription	Hela-S3	cervix
19	chr13:48941800-48973200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr13:48943000-48970800	Weak transcription	Pancreas	Pancrea
21	chr13:48943600-48984200	Weak transcription	Brain Angular Gyrus	brain
22	chr13:48944000-48974400	Weak transcription	Brain Anterior Caudate	brain
23	chr13:48944200-48973800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr13:48944600-48983400	Weak transcription	Psoas Muscle	Psoas
25	chr13:48945000-48972000	Weak transcription	HSMMtube	muscle
26	chr13:48945400-48974400	Weak transcription	Small Intestine	intestine
27	chr13:48949200-48967800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:48949400-48972800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:48949600-48968200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:48949600-48968200	Weak transcription	Fetal Kidney	kidney
31	chr13:48950000-48967800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:48950000-48967800	Weak transcription	Thymus	Thymus
33	chr13:48950000-48968200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:48950600-48968400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:48952600-48967400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr13:48953800-48972000	Weak transcription	Osteobl	bone
37	chr13:48954400-48972200	Weak transcription	HUVEC	blood vessel
38	chr13:48954800-48975000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr13:48955200-48967400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr13:48955800-48972000	Weak transcription	HMEC	breast
41	chr13:48955800-48972000	Weak transcription	NHDF-Ad	bronchial
42	chr13:48956000-48974000	Weak transcription	Colon Smooth Muscle	Colon
43	chr13:48956200-48970000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:48956200-48976600	Weak transcription	Liver	Liver
45	chr13:48959000-48967600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:48959800-48968200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:48959800-48972200	Weak transcription	Adipose Nuclei	Adipose
48	chr13:48961000-48969600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:48961000-48972000	Weak transcription	Fetal Lung	lung
50	chr13:48962400-48969200	Strong transcription	Dnd41	blood

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