Variant report

Variant	rs219057
Chromosome Location	chr2:33347932-33347933
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33347601..33349574-chr2:33351512..33354132,2	K562	blood:
2	chr2:33346676..33349370-chr2:33351753..33353323,2	MCF-7	breast:
3	chr2:33341850..33346633-chr2:33347912..33351586,5	K562	blood:
4	chr2:33332965..33336318-chr2:33345461..33348526,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1545551	1.00[AFR][1000 genomes]
rs218188	1.00[AFR][1000 genomes]
rs218191	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs218192	1.00[AFR][1000 genomes]
rs218196	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs218227	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs219056	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs219166	1.00[AFR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33333800-33355200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:33336600-33358400	Weak transcription	HUVEC	blood vessel
3	chr2:33336800-33352800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:33336800-33353400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:33336800-33358200	Weak transcription	Liver	Liver
6	chr2:33342200-33355000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:33342400-33350200	Weak transcription	Aorta	Aorta
8	chr2:33343000-33348200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:33344000-33357600	Weak transcription	Left Ventricle	heart
10	chr2:33346800-33358400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:33347200-33348600	Enhancers	Fetal Heart	heart
12	chr2:33347400-33358000	Weak transcription	Ovary	ovary
13	chr2:33347600-33348800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:33347600-33349000	Enhancers	HMEC	breast
15	chr2:33347800-33348000	Enhancers	Psoas Muscle	Psoas
16	chr2:33347800-33348200	Enhancers	Fetal Muscle Leg	muscle
17	chr2:33347800-33348200	Enhancers	K562	blood
18	chr2:33347800-33348600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:33347800-33348800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:33347800-33349000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:33347800-33349000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:33347800-33349000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:33347800-33349000	Enhancers	NHEK	skin

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