Variant report

Variant	rs4852891
Chromosome Location	chr2:72945013-72945014
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1032982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460572	1.00[CHB][hapmap]
rs10865391	1.00[CHB][hapmap]
rs11126373	1.00[CHB][hapmap]
rs11126374	1.00[CHB][hapmap]
rs11126376	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11126381	0.86[AFR][1000 genomes]
rs1150500	1.00[CHB][hapmap]
rs1161265	1.00[CHB][hapmap]
rs1161267	1.00[CHB][hapmap]
rs11676555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677707	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684985	1.00[CHB][hapmap]
rs11685114	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686713	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs11693376	0.86[CEU][hapmap]
rs12052508	1.00[CHB][hapmap]
rs12468173	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12468179	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12471136	1.00[CHB][hapmap]
rs12471312	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs12476130	1.00[CHB][hapmap]
rs12617074	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618390	1.00[CHB][hapmap]
rs12713773	1.00[CHB][hapmap]
rs12713774	1.00[CHB][hapmap]
rs12992973	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs12996319	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12996406	1.00[CHB][hapmap]
rs12998681	1.00[CHB][hapmap]
rs13006497	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008041	1.00[CHB][hapmap]
rs13008258	1.00[CHB][hapmap]
rs13008515	0.86[CEU][hapmap]
rs13011477	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1446887	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1446888	1.00[CHB][hapmap]
rs1446890	1.00[CHB][hapmap]
rs1446891	1.00[CHB][hapmap]
rs1446892	1.00[CHB][hapmap]
rs1446893	1.00[CHB][hapmap]
rs1446895	1.00[CHB][hapmap]
rs1446896	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596930	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1596931	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs17503444	1.00[CHB][hapmap]
rs1876490	1.00[YRI][hapmap]
rs1911690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	1.00[CHB][hapmap]
rs2048171	1.00[CHB][hapmap]
rs2063170	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421095	1.00[CHB][hapmap]
rs35666345	0.86[AFR][1000 genomes]
rs4364045	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4852291	1.00[CHB][hapmap]
rs4852292	1.00[CHB][hapmap]
rs4852293	1.00[CHB][hapmap]
rs4852294	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4852298	1.00[CHB][hapmap]
rs4852872	1.00[CHB][hapmap]
rs4852873	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs4852874	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4852875	1.00[CHB][hapmap]
rs4852876	1.00[CHB][hapmap]
rs4852877	1.00[CHB][hapmap]
rs4852878	1.00[CHB][hapmap]
rs4852879	0.90[CEU][hapmap]
rs4852880	1.00[CHB][hapmap]
rs4852883	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4852886	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852888	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546777	1.00[CHB][hapmap]
rs6546778	1.00[CHB][hapmap]
rs6546779	1.00[CHB][hapmap]
rs6546781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546782	1.00[CHB][hapmap]
rs6546783	1.00[CHB][hapmap]
rs6708156	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724529	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730083	1.00[CHB][hapmap]
rs6742312	1.00[CHB][hapmap]
rs6747378	1.00[CHB][hapmap]
rs6750766	1.00[CHB][hapmap]
rs7420667	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7560529	1.00[CHB][hapmap]
rs7565198	1.00[CHB][hapmap]
rs7571064	1.00[CHB][hapmap]
rs7577238	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7580268	1.00[CHB][hapmap]
rs7588400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588602	1.00[CHB][hapmap]
rs7591025	1.00[CHB][hapmap]
rs7591303	1.00[CHB][hapmap]
rs7592155	1.00[CHB][hapmap]
rs7598238	1.00[CHB][hapmap]
rs7600273	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7600718	0.83[CEU][hapmap]
rs7601020	1.00[CHB][hapmap]
rs7601318	1.00[CHB][hapmap]
rs983928	1.00[CHB][hapmap]
rs990569	1.00[CHB][hapmap]

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	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72905800-72984400	Weak transcription	Aorta	Aorta
2	chr2:72917000-72950000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:72917200-72946200	Weak transcription	HMEC	breast
4	chr2:72922000-72946200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:72922400-72945800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:72922400-72949800	Weak transcription	Fetal Brain Female	brain
7	chr2:72922400-72972000	Weak transcription	Right Ventricle	heart
8	chr2:72922400-72976200	Weak transcription	Psoas Muscle	Psoas
9	chr2:72922600-72951000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:72922800-72949600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:72923000-72945600	Weak transcription	Fetal Stomach	stomach
12	chr2:72923000-72972800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:72923200-72946000	Weak transcription	A549	lung
15	chr2:72923600-72958200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:72924000-72945200	Weak transcription	Ovary	ovary
17	chr2:72927600-72946200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:72929000-72951200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:72930400-72946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:72931400-72946200	Weak transcription	Esophagus	oesophagus
21	chr2:72933600-72946200	Weak transcription	Pancreas	Pancrea
22	chr2:72934200-72946200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:72934600-72945800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:72935600-72946200	Weak transcription	Small Intestine	intestine
25	chr2:72937200-72974200	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:72937400-72946200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:72937600-72946400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:72937800-72945800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:72937800-72946600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:72937800-72978400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:72938000-72945600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:72938000-72946600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:72938000-72949800	Weak transcription	HSMMtube	muscle
34	chr2:72938200-72946600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:72938200-72949400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:72938200-72950200	Weak transcription	Stomach Mucosa	stomach
37	chr2:72938200-72950200	Weak transcription	HSMM	muscle
38	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:72938400-72946200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:72938600-72950800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:72938800-72946200	Weak transcription	HUVEC	blood vessel
42	chr2:72939800-72945200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:72939800-72946200	Weak transcription	Lung	lung
44	chr2:72939800-72949800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:72940400-72946200	Weak transcription	HepG2	liver
46	chr2:72940600-72949400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:72940600-72959600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:72941200-72946400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:72941400-72970000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:72941600-72949200	Weak transcription	Liver	Liver

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