Variant report

Variant	rs11746512
Chromosome Location	chr5:126684878-126684879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126683909..126685782-chr5:126687587..126689671,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17165037	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs17165041	1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673147	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673170	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763370	1.00[YRI][hapmap]
rs17839696	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863175	1.00[YRI][hapmap]
rs55918025	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56096254	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144110	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786494	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786500	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788505	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126663400-126690200	Weak transcription	Fetal Brain Male	brain
2	chr5:126666800-126689200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126668000-126687200	Weak transcription	HSMM	muscle
4	chr5:126674200-126688800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:126675800-126687400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:126677000-126690200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:126678600-126688400	Weak transcription	Brain Angular Gyrus	brain
8	chr5:126678800-126690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:126679200-126690000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:126679200-126694000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:126679800-126686000	Weak transcription	HSMMtube	muscle
12	chr5:126679800-126687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:126679800-126687400	Weak transcription	Brain Substantia Nigra	brain
14	chr5:126679800-126688200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:126680000-126688400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:126681200-126685800	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:126681200-126687400	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:126681200-126688400	Weak transcription	Brain Anterior Caudate	brain
19	chr5:126681400-126693400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:126681800-126693600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:126681800-126693600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:126682000-126687200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:126682000-126688200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:126682200-126689000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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