Variant report

Variant	rs16865476
Chromosome Location	chr2:178490220-178490221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178489030..178493776-chr2:178494411..178499893,10	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE11A-1	chr2:178487979-178491033	NONHSAT075725

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4555380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977677	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977684	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977685	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977693	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977698	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977699	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979509	1.00[AMR][1000 genomes]
rs73979510	1.00[AMR][1000 genomes]
rs73979511	1.00[AMR][1000 genomes]
rs7559596	0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575717	0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178484000-178499200	Weak transcription	Pancreas	Pancrea
2	chr2:178484200-178490600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:178484200-178490600	Weak transcription	Fetal Stomach	stomach
4	chr2:178484200-178490800	Weak transcription	Right Atrium	heart
5	chr2:178484400-178490400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:178484400-178490600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:178484400-178490800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:178484400-178490800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:178485400-178490600	Weak transcription	HepG2	liver
10	chr2:178487600-178491200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:178487800-178490600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:178487800-178490600	Weak transcription	Brain Angular Gyrus	brain
13	chr2:178487800-178490600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:178487800-178490800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:178487800-178490800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:178487800-178490800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:178487800-178490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:178487800-178491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:178487800-178491200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:178488000-178490600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:178488000-178490800	Weak transcription	Brain Substantia Nigra	brain
22	chr2:178488000-178490800	Weak transcription	Fetal Brain Female	brain
23	chr2:178488000-178491000	Weak transcription	Brain Germinal Matrix	brain
24	chr2:178488000-178498800	Weak transcription	Fetal Kidney	kidney
25	chr2:178488400-178493400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:178490000-178490600	Enhancers	K562	blood
27	chr2:178490000-178491200	Enhancers	HUVEC	blood vessel
28	chr2:178490200-178491000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:178490200-178491800	Enhancers	Fetal Brain Male	brain

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