Variant report

Variant	rs62146734
Chromosome Location	chr2:33454466-33454467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33453270..33456098-chr2:33456709..33459477,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11124310	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12151817	0.84[ASN][1000 genomes]
rs13021881	0.81[EUR][1000 genomes]
rs1454376	0.80[EUR][1000 genomes]
rs1454378	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17568051	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17641906	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17642074	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2290448	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2367508	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2367509	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4630744	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671024	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671035	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56163907	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60000782	0.82[AMR][1000 genomes]
rs62146732	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6750739	0.86[ASN][1000 genomes]
rs7580348	0.81[AMR][1000 genomes]
rs7590965	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608222	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7608535	0.89[AMR][1000 genomes];0.86[EUR][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:30 , 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	chr2:33442600-33467600	Weak transcription	Ovary	ovary
5	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
6	chr2:33446000-33455000	Weak transcription	Fetal Kidney	kidney
7	chr2:33446600-33454800	Weak transcription	A549	lung
8	chr2:33446600-33461200	Weak transcription	HUVEC	blood vessel
9	chr2:33446800-33461200	Weak transcription	Fetal Lung	lung
10	chr2:33447400-33468200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:33448400-33461400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:33449200-33454600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:33449200-33456200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:33449400-33454600	Weak transcription	NHLF	lung
15	chr2:33449400-33454600	Weak transcription	Osteobl	bone
16	chr2:33449400-33461400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:33449400-33466200	Weak transcription	Fetal Heart	heart
18	chr2:33449400-33475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:33449600-33454600	Weak transcription	NHDF-Ad	bronchial
20	chr2:33450800-33456400	Weak transcription	NH-A	brain
21	chr2:33450800-33461400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:33451200-33454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:33451400-33461200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:33451800-33456000	Weak transcription	Aorta	Aorta
25	chr2:33451800-33466200	Weak transcription	Left Ventricle	heart
26	chr2:33452600-33455400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:33453400-33456200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:33454400-33455200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:33454400-33456200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:33454400-33456200	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links