Variant report

Variant	rs218193
Chromosome Location	chr2:33344570-33344571
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33341850..33346633-chr2:33347912..33351586,5	K562	blood:
2	chr2:33342989..33344574-chr2:33349726..33351939,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10189552	0.88[AMR][1000 genomes]
rs1037507	0.88[AMR][1000 genomes]
rs1545551	0.88[AMR][1000 genomes]
rs1563184	0.88[AMR][1000 genomes]
rs218188	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218192	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218194	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218195	1.00[ASW][hapmap]
rs218198	0.83[AMR][1000 genomes]
rs218199	0.88[AMR][1000 genomes]
rs218200	0.88[AMR][1000 genomes]
rs218201	0.88[AMR][1000 genomes]
rs218203	1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs218204	1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs218207	0.88[AMR][1000 genomes]
rs2198567	0.88[AMR][1000 genomes]
rs4670254	0.88[AMR][1000 genomes]
rs7577712	0.83[AMR][1000 genomes]
rs897091	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33328800-33347800	Weak transcription	Psoas Muscle	Psoas
2	chr2:33333400-33346600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:33333800-33355200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:33336600-33347800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:33336600-33358400	Weak transcription	HUVEC	blood vessel
6	chr2:33336800-33346400	Weak transcription	Ovary	ovary
7	chr2:33336800-33352800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:33336800-33353400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:33336800-33358200	Weak transcription	Liver	Liver
10	chr2:33339600-33344600	Enhancers	Fetal Heart	heart
11	chr2:33342200-33355000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:33342400-33350200	Weak transcription	Aorta	Aorta
13	chr2:33343000-33348200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:33343200-33344600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:33343200-33346400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:33343200-33347800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:33343400-33344800	Enhancers	K562	blood
18	chr2:33344000-33357600	Weak transcription	Left Ventricle	heart
19	chr2:33344200-33347600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:33344200-33347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:33344400-33347800	Weak transcription	NHEK	skin

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