Variant report

Variant	rs17684438
Chromosome Location	chr5:126667268-126667269
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	chr5:126661735..126664100-chr5:126665392..126668394,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10519949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652963	1.00[CEU][hapmap]
rs12652982	1.00[CEU][hapmap]
rs12654455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12655913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12659381	1.00[CEU][hapmap]
rs12659424	1.00[CEU][hapmap]
rs17684525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17762857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17762863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839701	1.00[CEU][hapmap]
rs2194080	0.91[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];0.89[YRI][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	chr5:126648000-126674800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126656600-126673400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:126656800-126667600	Weak transcription	HSMMtube	muscle
4	chr5:126660400-126671200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:126662800-126672800	Weak transcription	Fetal Brain Female	brain
6	chr5:126663200-126673600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:126663400-126690200	Weak transcription	Fetal Brain Male	brain
8	chr5:126664400-126667600	Weak transcription	HSMM	muscle
9	chr5:126665400-126670200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:126665400-126670400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:126665600-126668000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:126665600-126671200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:126665800-126668200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:126665800-126668800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:126665800-126671200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:126666000-126668200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:126666000-126669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:126666200-126667400	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:126666200-126667600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:126666200-126668600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:126666200-126670800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:126666200-126679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:126666600-126667400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:126666600-126668000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:126666600-126668800	Weak transcription	Brain Anterior Caudate	brain
26	chr5:126666600-126673400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:126666800-126667800	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:126666800-126669200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:126666800-126671000	Weak transcription	Brain Angular Gyrus	brain
30	chr5:126666800-126689200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:126667000-126668200	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:126667000-126668400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr5:126667000-126669000	Weak transcription	Brain Substantia Nigra	brain
34	chr5:126667200-126667600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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