Variant report

Variant	rs11124310
Chromosome Location	chr2:33444059-33444060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10495784	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1065324	0.81[EUR][1000 genomes]
rs12611549	0.81[EUR][1000 genomes]
rs12617948	0.81[EUR][1000 genomes]
rs12617970	0.81[EUR][1000 genomes]
rs13021881	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1377946	0.81[ASN][1000 genomes]
rs1454376	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1454378	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454379	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17566780	0.81[EUR][1000 genomes]
rs17567417	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17568051	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641062	0.82[EUR][1000 genomes]
rs17641180	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17641906	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17642074	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061026	0.81[EUR][1000 genomes]
rs2061027	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290448	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290449	0.87[ASN][1000 genomes]
rs2367623	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4630744	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4670245	0.81[EUR][1000 genomes]
rs4670251	0.80[EUR][1000 genomes]
rs4670313	0.88[ASN][1000 genomes]
rs4670778	0.80[EUR][1000 genomes]
rs4670828	0.81[EUR][1000 genomes]
rs4670849	0.80[EUR][1000 genomes]
rs4670928	0.82[EUR][1000 genomes]
rs4671010	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671016	0.83[ASN][1000 genomes]
rs4671024	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671035	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5006126	0.81[EUR][1000 genomes]
rs56163907	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58774073	0.85[ASN][1000 genomes]
rs58920936	0.83[ASN][1000 genomes]
rs60000782	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60558455	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62146678	0.80[EUR][1000 genomes]
rs62146726	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62146732	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62146734	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6543699	0.81[EUR][1000 genomes]
rs6705772	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6720405	0.81[EUR][1000 genomes]
rs6726760	0.84[ASN][1000 genomes]
rs726429	0.81[EUR][1000 genomes]
rs72797893	0.85[ASN][1000 genomes]
rs7580348	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7581446	0.82[EUR][1000 genomes]
rs7584473	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7590965	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7608222	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608535	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964703	0.81[EUR][1000 genomes]
rs996103	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
3	chr2:33435800-33444400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:33436600-33444200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:33436800-33455000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:33437400-33444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:33437800-33444400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:33437800-33444600	Weak transcription	Hela-S3	cervix
9	chr2:33437800-33445200	Weak transcription	Fetal Kidney	kidney
10	chr2:33439800-33444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:33440000-33444400	Weak transcription	K562	blood
12	chr2:33440400-33446000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:33440800-33447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:33442000-33444400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:33442000-33445000	Weak transcription	HSMMtube	muscle
16	chr2:33442000-33445600	Weak transcription	Aorta	Aorta
17	chr2:33442200-33444200	Weak transcription	HUVEC	blood vessel
18	chr2:33442200-33444400	Weak transcription	NH-A	brain
19	chr2:33442200-33444600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:33442200-33444600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:33442200-33444600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:33442200-33444800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:33442200-33444800	Weak transcription	Fetal Heart	heart
24	chr2:33442200-33445000	Weak transcription	HSMM	muscle
25	chr2:33442200-33445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:33442200-33447000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:33442200-33447200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:33442400-33444600	Weak transcription	NHDF-Ad	bronchial
29	chr2:33442400-33444800	Weak transcription	HMEC	breast
30	chr2:33442400-33445000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:33442600-33445800	Weak transcription	Right Ventricle	heart
32	chr2:33442600-33447600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:33442600-33452200	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:33442600-33467600	Weak transcription	Ovary	ovary
35	chr2:33442800-33444200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:33442800-33444600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:33442800-33444800	Weak transcription	Fetal Lung	lung
38	chr2:33442800-33445000	Weak transcription	NHEK	skin
39	chr2:33442800-33445000	Weak transcription	Osteobl	bone
40	chr2:33442800-33445200	Weak transcription	NHLF	lung
41	chr2:33442800-33445600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:33442800-33445600	Weak transcription	Right Atrium	heart
43	chr2:33442800-33446200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:33442800-33446600	Weak transcription	Liver	Liver
45	chr2:33442800-33447200	Weak transcription	Left Ventricle	heart
46	chr2:33442800-33453400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
48	chr2:33443400-33444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:33443800-33444400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:33443800-33445600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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