Variant report

Variant	rs12654455
Chromosome Location	chr5:126674869-126674870
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	chr5:126672674..126675418-chr5:126679915..126681787,2	K562	blood:
2	chr5:126673266..126674884-chr5:126706701..126708447,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10519949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12652963	1.00[CEU][hapmap]
rs12652982	1.00[CEU][hapmap]
rs12655913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12659381	1.00[CEU][hapmap]
rs12659424	1.00[CEU][hapmap]
rs17165013	1.00[TSI][hapmap]
rs17165018	1.00[TSI][hapmap]
rs17684438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17684525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684740	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17762857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17762863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17839701	1.00[CEU][hapmap]
rs1990954	1.00[MEX][hapmap]
rs2194080	0.90[CHB][hapmap]
rs3812058	1.00[CEU][hapmap]
rs3812059	1.00[CEU][hapmap]
rs6862045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73344962	1.00[EUR][1000 genomes]
rs73344963	1.00[EUR][1000 genomes]
rs73344964	1.00[EUR][1000 genomes]
rs73344966	1.00[EUR][1000 genomes]
rs7728190	1.00[CEU][hapmap]

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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126663400-126690200	Weak transcription	Fetal Brain Male	brain
2	chr5:126666200-126679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:126666800-126689200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:126668000-126687200	Weak transcription	HSMM	muscle
5	chr5:126669400-126675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:126672400-126675200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:126672600-126675600	Enhancers	Brain Angular Gyrus	brain
8	chr5:126672600-126675800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:126672800-126675000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:126672800-126675000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:126672800-126675800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:126673000-126675800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:126673200-126675000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr5:126673400-126675600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:126673800-126681800	Weak transcription	Fetal Brain Female	brain
16	chr5:126674000-126675400	Enhancers	Brain Hippocampus Middle	brain
17	chr5:126674200-126678000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:126674200-126678200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:126674200-126688800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:126674400-126675000	Weak transcription	Brain Substantia Nigra	brain
21	chr5:126674400-126675600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:126674400-126676000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:126674400-126676200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:126674600-126675000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:126674600-126675000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:126674600-126675800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:126674600-126676200	Weak transcription	Brain Anterior Caudate	brain
28	chr5:126674800-126675200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr5:126674800-126675600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:126674800-126675800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:126674800-126677000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:126674800-126677000	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:126674800-126677000	Strong transcription	HSMMtube	muscle
34	chr5:126674800-126679800	Strong transcription	Fetal Muscle Trunk	muscle

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