Variant report

Variant	rs1949966
Chromosome Location	chr2:178495088-178495089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178493836..178495394-chr2:178504667..178506617,2	MCF-7	breast:
2	chr2:178494059..178496707-chr2:178497248..178499887,2	K562	blood:
3	chr2:178489030..178493776-chr2:178494411..178499893,10	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11896332	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1949965	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1986843	1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57425089	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57691380	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58101370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58334841	0.83[ASN][1000 genomes]
rs58442927	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59274646	0.83[ASN][1000 genomes]
rs59353759	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59903527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61306957	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs935427	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv525762	chr2:178494520-178497366	Weak transcription Enhancers	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	chr2:178484000-178499200	Weak transcription	Pancreas	Pancrea
2	chr2:178488000-178498800	Weak transcription	Fetal Kidney	kidney
3	chr2:178491400-178496400	Weak transcription	K562	blood
4	chr2:178491400-178498400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:178491400-178498800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:178493200-178498800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:178494000-178495200	Enhancers	Dnd41	blood
8	chr2:178494200-178495400	Enhancers	Fetal Brain Male	brain
9	chr2:178494200-178497800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:178494200-178498000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:178494200-178498200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:178494200-178499200	Weak transcription	Left Ventricle	heart
13	chr2:178494400-178497400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:178494400-178497600	Weak transcription	Brain Germinal Matrix	brain
15	chr2:178494400-178498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:178494400-178498400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:178494600-178496000	Enhancers	HepG2	liver
18	chr2:178494800-178495600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:178494800-178498800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:178495000-178497400	Weak transcription	GM12878-XiMat	blood
21	chr2:178495000-178497800	Weak transcription	Fetal Brain Female	brain

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