Variant report

Variant	rs6546781
Chromosome Location	chr2:72923891-72923892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1032982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460572	1.00[CHB][hapmap]
rs10865391	1.00[CHB][hapmap]
rs11126370	1.00[CHB][hapmap]
rs11126373	1.00[CHB][hapmap]
rs11126374	1.00[CHB][hapmap]
rs11126376	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1150500	1.00[CHB][hapmap]
rs1161265	1.00[CHB][hapmap]
rs1161267	1.00[CHB][hapmap]
rs11676555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677707	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686713	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs11693376	0.82[CEU][hapmap]
rs12052508	1.00[CHB][hapmap]
rs12468173	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12468179	0.87[AMR][1000 genomes];0.87[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];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618390	1.00[CHB][hapmap]
rs12713772	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];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[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];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008041	1.00[CHB][hapmap]
rs13008258	1.00[CHB][hapmap]
rs13008515	0.82[CEU][hapmap]
rs13011477	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1400581	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1446887	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[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];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517181	1.00[CHB][hapmap]
rs1517185	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1596930	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1596931	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs17503444	1.00[CHB][hapmap]
rs1911690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	1.00[CHB][hapmap]
rs2048171	1.00[CHB][hapmap]
rs2063170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138683	1.00[CHB][hapmap]
rs2421095	1.00[CHB][hapmap]
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	0.88[AMR][1000 genomes];0.81[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];0.81[EUR][1000 genomes]
rs4852886	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852888	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
rs6546782	1.00[CHB][hapmap]
rs6546783	1.00[CHB][hapmap]
rs6708156	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724529	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.84[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];0.92[AMR][1000 genomes];0.95[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	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
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:1 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72896800-72943000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:72903600-72937400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:72904400-72939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:72905600-72943200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:72905800-72984400	Weak transcription	Aorta	Aorta
6	chr2:72912200-72942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:72913400-72945000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:72917000-72950000	Weak transcription	Brain Angular Gyrus	brain
9	chr2:72917200-72946200	Weak transcription	HMEC	breast
10	chr2:72917400-72944800	Weak transcription	NHEK	skin
11	chr2:72919800-72924000	Enhancers	Fetal Heart	heart
12	chr2:72920400-72945000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:72921200-72924000	Enhancers	Ovary	ovary
14	chr2:72922000-72946200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:72922200-72942800	Weak transcription	Placenta	Placenta
16	chr2:72922400-72925200	Weak transcription	Brain Anterior Caudate	brain
17	chr2:72922400-72929800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:72922400-72939400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:72922400-72941000	Weak transcription	Left Ventricle	heart
20	chr2:72922400-72942800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:72922400-72945800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:72922400-72949800	Weak transcription	Fetal Brain Female	brain
23	chr2:72922400-72972000	Weak transcription	Right Ventricle	heart
24	chr2:72922400-72976200	Weak transcription	Psoas Muscle	Psoas
25	chr2:72922600-72924000	Enhancers	K562	blood
26	chr2:72922600-72925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:72922600-72929200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:72922600-72933400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:72922600-72942800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:72922600-72951000	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:72922800-72927000	Weak transcription	Fetal Brain Male	brain
32	chr2:72922800-72927600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:72922800-72939400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:72922800-72949600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:72923000-72932600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:72923000-72939400	Weak transcription	HepG2	liver
37	chr2:72923000-72944600	Weak transcription	Fetal Lung	lung
38	chr2:72923000-72945600	Weak transcription	Fetal Stomach	stomach
39	chr2:72923000-72972800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:72923200-72946000	Weak transcription	A549	lung
42	chr2:72923400-72924200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:72923600-72958200	Weak transcription	Brain Cingulate Gyrus	brain

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