Variant report

Variant	rs57231149
Chromosome Location	chr2:100931930-100931931
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	chr2:100930930..100933360-chr2:100937195..100939420,2	K562	blood:
2	chr2:100930355..100933148-chr2:100933747..100936603,2	K562	blood:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10169580	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10178929	1.00[EUR][1000 genomes]
rs10183462	1.00[EUR][1000 genomes]
rs10186689	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10187094	1.00[EUR][1000 genomes]
rs10188009	0.93[ASN][1000 genomes]
rs10188619	1.00[EUR][1000 genomes]
rs10190243	1.00[EUR][1000 genomes]
rs10191099	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10191655	1.00[EUR][1000 genomes]
rs10192741	0.93[ASN][1000 genomes]
rs10193186	1.00[EUR][1000 genomes]
rs10194087	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10194280	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10197013	1.00[EUR][1000 genomes]
rs10205784	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10207091	1.00[EUR][1000 genomes]
rs10207566	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10210458	0.93[ASN][1000 genomes]
rs1107428	1.00[EUR][1000 genomes]
rs11123831	1.00[EUR][1000 genomes]
rs11899975	0.93[ASN][1000 genomes]
rs11902829	0.82[ASN][1000 genomes]
rs12329351	1.00[EUR][1000 genomes]
rs13391540	1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[EUR][1000 genomes]
rs13415850	0.93[ASN][1000 genomes]
rs13416287	1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs13425645	1.00[EUR][1000 genomes]
rs13427376	1.00[EUR][1000 genomes]
rs17024023	0.93[ASN][1000 genomes]
rs17024405	1.00[EUR][1000 genomes]
rs2309799	0.93[ASN][1000 genomes]
rs28485289	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28549897	1.00[EUR][1000 genomes]
rs28631885	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28651883	0.82[ASN][1000 genomes]
rs2871338	0.93[ASN][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs4597550	1.00[EUR][1000 genomes]
rs56377332	1.00[EUR][1000 genomes]
rs57699256	0.93[ASN][1000 genomes]
rs58552292	0.85[ASN][1000 genomes]
rs58742261	0.85[ASN][1000 genomes]
rs59036130	1.00[EUR][1000 genomes]
rs59193721	0.93[ASN][1000 genomes]
rs59494003	0.82[ASN][1000 genomes]
rs60292856	1.00[EUR][1000 genomes]
rs60458261	0.93[ASN][1000 genomes]
rs61429123	0.93[ASN][1000 genomes]
rs6542927	1.00[EUR][1000 genomes]
rs6542928	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542935	1.00[EUR][1000 genomes]
rs6723222	1.00[EUR][1000 genomes]
rs6733677	1.00[EUR][1000 genomes]
rs6734881	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6742048	1.00[EUR][1000 genomes]
rs6743560	1.00[EUR][1000 genomes]
rs6755284	1.00[EUR][1000 genomes]
rs6759686	1.00[EUR][1000 genomes]
rs72954123	1.00[EUR][1000 genomes]
rs72960174	0.89[ASN][1000 genomes]
rs72968866	1.00[EUR][1000 genomes]
rs73964443	1.00[EUR][1000 genomes]
rs73968406	1.00[EUR][1000 genomes]
rs7563037	1.00[EUR][1000 genomes]
rs7563954	1.00[EUR][1000 genomes]
rs7564318	1.00[EUR][1000 genomes]
rs7566095	1.00[EUR][1000 genomes]
rs7569334	1.00[EUR][1000 genomes]
rs7585806	1.00[EUR][1000 genomes]
rs7609272	1.00[EUR][1000 genomes]
rs9808480	1.00[EUR][1000 genomes]
rs995110	1.00[EUR][1000 genomes]
rs995132	1.00[EUR][1000 genomes]
rs995133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2753837	chr2:100928086-100955814	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 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	chr2:100901000-100937000	Weak transcription	Fetal Brain Male	brain
2	chr2:100910800-100933600	Weak transcription	K562	blood
3	chr2:100912800-100934800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100918200-100937600	Weak transcription	Aorta	Aorta
5	chr2:100924200-100936800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:100924600-100934600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:100924600-100936000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:100925800-100933000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:100925800-100933200	Weak transcription	A549	lung
10	chr2:100927000-100934800	Weak transcription	Ovary	ovary
11	chr2:100929800-100937000	Weak transcription	Pancreas	Pancrea
12	chr2:100930800-100937000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:100931600-100933200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:100931600-100933600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:100931600-100935800	Weak transcription	Brain Inferior Temporal Lobe	brain

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