Variant report

Variant	rs2897496
Chromosome Location	chr13:48554443-48554444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11838539	0.82[EUR][1000 genomes]
rs12427516	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12427964	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428055	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12428102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12429099	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12429105	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12429348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12429746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12429993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12430076	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12430172	0.85[AMR][1000 genomes]
rs12431057	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431130	0.82[EUR][1000 genomes]
rs1968029	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2094191	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2148242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182377	0.94[ASN][1000 genomes]
rs35710390	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57698455	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57957392	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58316588	0.82[EUR][1000 genomes]
rs58634823	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61585711	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002322	0.94[ASN][1000 genomes]
rs840430	0.94[ASN][1000 genomes]
rs9534910	0.94[ASN][1000 genomes]
rs9534936	0.81[ASN][1000 genomes]
rs9567962	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:48532400-48559400	Weak transcription	Gastric	stomach
4	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:48534000-48560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
7	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
8	chr13:48535000-48564800	Weak transcription	NHLF	lung
9	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
10	chr13:48537400-48560200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:48537400-48574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:48538000-48567200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:48538400-48574000	Weak transcription	Hela-S3	cervix
15	chr13:48538600-48559800	Weak transcription	HUVEC	blood vessel
16	chr13:48538800-48564800	Weak transcription	Brain Germinal Matrix	brain
17	chr13:48539600-48571200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr13:48540000-48574200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:48540200-48559000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr13:48540800-48565000	Weak transcription	NH-A	brain
21	chr13:48542000-48558800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:48542400-48564800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:48542400-48565200	Weak transcription	Psoas Muscle	Psoas
24	chr13:48542400-48567000	Weak transcription	Esophagus	oesophagus
25	chr13:48542800-48559000	Weak transcription	HSMM	muscle
26	chr13:48543000-48574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr13:48543400-48560600	Weak transcription	HepG2	liver
28	chr13:48546400-48559400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:48546400-48564600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:48546400-48565200	Weak transcription	Pancreas	Pancrea
31	chr13:48546600-48559200	Weak transcription	Brain Substantia Nigra	brain
32	chr13:48546600-48574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:48546600-48574800	Weak transcription	Spleen	Spleen
34	chr13:48546800-48559000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:48546800-48559000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr13:48546800-48559200	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:48546800-48560600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:48546800-48564200	Weak transcription	Lung	lung
39	chr13:48546800-48564600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr13:48546800-48567000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:48546800-48567200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr13:48546800-48571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:48547000-48559200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr13:48547400-48559200	Weak transcription	Brain Anterior Caudate	brain
45	chr13:48547800-48559200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:48548000-48557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr13:48548000-48559000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr13:48548000-48559000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr13:48548000-48559000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:48548000-48559600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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