Variant report

Variant	rs60337565
Chromosome Location	chr5:126644814-126644815
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10063277	1.00[AMR][1000 genomes]
rs57261222	1.00[AMR][1000 genomes]
rs73331301	1.00[AMR][1000 genomes]
rs73333106	1.00[AMR][1000 genomes]
rs73785582	1.00[AMR][1000 genomes]
rs73785583	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126634400-126648400	Enhancers	Brain Substantia Nigra	brain
2	chr5:126636200-126650600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:126639200-126648400	Enhancers	Brain Angular Gyrus	brain
4	chr5:126641600-126645200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:126641800-126645400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr5:126642400-126645400	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:126642400-126647000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:126642400-126647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:126642600-126645800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:126642600-126647200	Weak transcription	Brain Germinal Matrix	brain
11	chr5:126643600-126647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:126643800-126645200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:126643800-126646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:126643800-126646400	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:126643800-126646400	Weak transcription	HSMMtube	muscle
16	chr5:126643800-126646800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:126643800-126646800	Weak transcription	HSMM	muscle
18	chr5:126643800-126647000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:126643800-126647200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:126643800-126647400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:126643800-126647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:126643800-126647600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:126643800-126647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:126643800-126649400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:126644200-126646400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:126644600-126645400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:126644600-126645400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:126644600-126645600	Enhancers	Fetal Brain Female	brain
29	chr5:126644600-126650200	Enhancers	Brain Hippocampus Middle	brain
30	chr5:126644600-126650800	Enhancers	Brain Anterior Caudate	brain
31	chr5:126644800-126645200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:126644800-126645400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:126644800-126645400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:126644800-126648200	Enhancers	Fetal Brain Male	brain

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