Variant report

Variant	rs4963585
Chromosome Location	chr12:24841196-24841197
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	chr12:24839825..24845470-chr12:24846410..24853046,14	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10743510	1.00[EUR][1000 genomes]
rs10771101	1.00[EUR][1000 genomes]
rs10771102	1.00[EUR][1000 genomes]
rs1115525	1.00[EUR][1000 genomes]
rs1386640	1.00[AMR][1000 genomes]
rs1386641	1.00[EUR][1000 genomes]
rs1386642	1.00[AMR][1000 genomes]
rs1386643	1.00[EUR][1000 genomes]
rs1487652	1.00[EUR][1000 genomes]
rs1487659	1.00[AMR][1000 genomes]
rs1811606	1.00[AMR][1000 genomes]
rs1872642	1.00[EUR][1000 genomes]
rs1872643	1.00[EUR][1000 genomes]
rs2200502	1.00[EUR][1000 genomes]
rs2354628	1.00[EUR][1000 genomes]
rs2883333	1.00[EUR][1000 genomes]
rs2955480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2955482	1.00[EUR][1000 genomes]
rs2955483	1.00[EUR][1000 genomes]
rs2955488	1.00[AMR][1000 genomes]
rs2955489	1.00[AMR][1000 genomes]
rs2970414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970421	1.00[AMR][1000 genomes]
rs3110019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3110020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3112129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3112130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3112131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4029339	1.00[EUR][1000 genomes]
rs4255625	1.00[EUR][1000 genomes]
rs4348994	1.00[EUR][1000 genomes]
rs4963576	1.00[AMR][1000 genomes]
rs4963578	1.00[AMR][1000 genomes]
rs4963800	1.00[EUR][1000 genomes]
rs6487392	1.00[AMR][1000 genomes]
rs6487402	1.00[EUR][1000 genomes]
rs7136296	1.00[EUR][1000 genomes]
rs7136885	1.00[EUR][1000 genomes]
rs7307756	1.00[AMR][1000 genomes]
rs7312721	1.00[AMR][1000 genomes]
rs7980315	1.00[EUR][1000 genomes]
rs936901	1.00[EUR][1000 genomes]
rs962728	1.00[EUR][1000 genomes]
rs997025	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1046463	chr12:24538432-24916851	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv915555	chr12:24666481-24952013	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv1053309	chr12:24770995-25078227	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24832800-24841200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:24835600-24848800	Weak transcription	Fetal Heart	heart
3	chr12:24840000-24841600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:24840400-24841200	Enhancers	Fetal Brain Male	brain
5	chr12:24840400-24841400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:24840400-24841800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:24840600-24841200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:24840600-24841400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:24840600-24841400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:24840600-24841800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:24840600-24841800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:24840800-24841400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:24840800-24841600	Weak transcription	Fetal Brain Female	brain
14	chr12:24840800-24841800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:24841000-24841400	Enhancers	Brain Germinal Matrix	brain

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