Variant report

Variant	rs1454376
Chromosome Location	chr2:33448665-33448666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10205739	0.83[ASN][1000 genomes]
rs10211514	0.80[EUR][1000 genomes]
rs10495784	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11124310	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11681694	0.85[ASN][1000 genomes]
rs12611532	0.80[EUR][1000 genomes]
rs13021881	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1377946	0.94[ASN][1000 genomes]
rs1377947	0.84[ASN][1000 genomes]
rs1454378	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1454379	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17568051	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17641906	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17642074	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1869542	0.84[ASN][1000 genomes]
rs2061026	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2290448	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290449	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2367508	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2367509	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2367624	0.83[ASN][1000 genomes]
rs4670307	0.84[ASN][1000 genomes]
rs4670313	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670822	0.80[EUR][1000 genomes]
rs4670833	0.80[EUR][1000 genomes]
rs4671016	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4671024	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4671035	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56163907	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62146732	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62146734	0.80[EUR][1000 genomes]
rs6543698	0.80[EUR][1000 genomes]
rs6543700	0.80[EUR][1000 genomes]
rs6720059	0.80[EUR][1000 genomes]
rs6720185	0.80[EUR][1000 genomes]
rs6726760	0.94[ASN][1000 genomes]
rs6736908	0.80[EUR][1000 genomes]
rs6748806	0.80[EUR][1000 genomes]
rs6751657	0.80[EUR][1000 genomes]
rs7423390	0.84[ASN][1000 genomes]
rs7580348	0.82[EUR][1000 genomes]
rs7590965	0.82[EUR][1000 genomes]
rs7608222	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7608535	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9308931	0.84[ASN][1000 genomes]
rs964702	0.84[ASN][1000 genomes]
rs964703	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs996102	0.84[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:40 , 50 per page) page: 1

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	chr2:33436800-33455000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:33442600-33452200	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:33442600-33467600	Weak transcription	Ovary	ovary
6	chr2:33442800-33453400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
8	chr2:33445600-33449200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:33446000-33455000	Weak transcription	Fetal Kidney	kidney
10	chr2:33446400-33448800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:33446400-33449400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:33446400-33450400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:33446400-33451200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:33446400-33452600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:33446600-33449000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:33446600-33451200	Weak transcription	K562	blood
17	chr2:33446600-33454800	Weak transcription	A549	lung
18	chr2:33446600-33461200	Weak transcription	HUVEC	blood vessel
19	chr2:33446800-33461200	Weak transcription	Fetal Lung	lung
20	chr2:33447000-33449200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:33447000-33449400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:33447000-33449400	Enhancers	NHEK	skin
23	chr2:33447200-33449200	Strong transcription	Left Ventricle	heart
24	chr2:33447400-33468200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:33447600-33448800	Weak transcription	Placenta	Placenta
26	chr2:33447600-33449200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:33447600-33452600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:33447800-33449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:33447800-33449600	Genic enhancers	NHDF-Ad	bronchial
30	chr2:33447800-33451400	Weak transcription	Aorta	Aorta
31	chr2:33448000-33449400	Genic enhancers	NHLF	lung
32	chr2:33448000-33450600	Weak transcription	NH-A	brain
33	chr2:33448200-33450600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:33448200-33450800	Weak transcription	Liver	Liver
35	chr2:33448400-33448800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:33448400-33461400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:33448600-33449000	Weak transcription	Fetal Heart	heart
38	chr2:33448600-33449400	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr2:33448600-33449400	Genic enhancers	Osteobl	bone
40	chr2:33448600-33451400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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