Variant report

Variant	rs55673259
Chromosome Location	chr2:33378964-33378965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10211514	0.80[EUR][1000 genomes]
rs1065324	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12104955	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12611532	0.80[EUR][1000 genomes]
rs12611549	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12617948	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12617970	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12620853	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17565877	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17566780	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17641062	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17641180	0.82[EUR][1000 genomes]
rs1947444	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2061027	0.83[EUR][1000 genomes]
rs34577456	0.80[EUR][1000 genomes]
rs4474865	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4670186	0.80[EUR][1000 genomes]
rs4670245	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4670251	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4670778	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670822	0.80[EUR][1000 genomes]
rs4670828	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4670833	0.80[EUR][1000 genomes]
rs4670836	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4670849	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4670928	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4671010	0.83[EUR][1000 genomes]
rs5006120	0.80[EUR][1000 genomes]
rs5006126	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55911139	0.80[EUR][1000 genomes]
rs56282338	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60000782	0.82[EUR][1000 genomes]
rs60692621	0.83[ASN][1000 genomes]
rs62133341	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62146677	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62146678	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62146679	0.80[EUR][1000 genomes]
rs62146726	0.83[EUR][1000 genomes]
rs6543698	0.80[EUR][1000 genomes]
rs6543699	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6543700	0.80[EUR][1000 genomes]
rs6705772	0.83[EUR][1000 genomes]
rs6707904	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6707962	0.81[EUR][1000 genomes]
rs6715793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720059	0.80[EUR][1000 genomes]
rs6720185	0.80[EUR][1000 genomes]
rs6720405	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6736908	0.80[EUR][1000 genomes]
rs6743685	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6748806	0.80[EUR][1000 genomes]
rs6751657	0.80[EUR][1000 genomes]
rs726429	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7580348	0.81[EUR][1000 genomes]
rs7595240	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
2	chr2:33362600-33382400	Weak transcription	HUVEC	blood vessel
3	chr2:33367200-33384000	Weak transcription	K562	blood
4	chr2:33369600-33389800	Weak transcription	Right Atrium	heart
5	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
6	chr2:33371600-33382400	Weak transcription	Fetal Kidney	kidney
7	chr2:33371600-33383800	Weak transcription	HSMMtube	muscle
8	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
9	chr2:33371800-33382800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:33373200-33382800	Weak transcription	Left Ventricle	heart
11	chr2:33373800-33382000	Weak transcription	Fetal Heart	heart
12	chr2:33374000-33384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:33377000-33379200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:33377200-33379600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:33377200-33379600	Enhancers	HMEC	breast
17	chr2:33377200-33379600	Enhancers	NHEK	skin
18	chr2:33377200-33380000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:33377600-33379600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:33377600-33379600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:33377600-33379600	Enhancers	NHLF	lung
22	chr2:33377800-33379400	Enhancers	NHDF-Ad	bronchial
23	chr2:33377800-33379400	Enhancers	Osteobl	bone
24	chr2:33377800-33379800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:33377800-33379800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:33378000-33379000	Enhancers	NH-A	brain
27	chr2:33378200-33379800	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:33378200-33380000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:33378200-33382800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:33378400-33379000	Enhancers	Aorta	Aorta
31	chr2:33378400-33383200	Weak transcription	HSMM	muscle
32	chr2:33378600-33379000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:33378600-33379000	Weak transcription	Ovary	ovary
34	chr2:33378600-33379800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:33378600-33384000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:33378800-33379200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:33378800-33379200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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