Variant report

Variant	rs4608976
Chromosome Location	chr5:126260524-126260525
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126258710..126261144-chr5:126262419..126265615,3	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17592844	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17839705	0.87[CEU][hapmap];1.00[GIH][hapmap]

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	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4608976	MYO6	trans	lymphoblastoid	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126244400-126261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:126254000-126261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:126255400-126272400	Weak transcription	HSMM	muscle
7	chr5:126255600-126263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:126255600-126272400	Weak transcription	HSMMtube	muscle
9	chr5:126256200-126261000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:126257200-126262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:126257200-126267800	Weak transcription	Psoas Muscle	Psoas
12	chr5:126257400-126261800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:126257400-126263200	Weak transcription	Brain Substantia Nigra	brain
14	chr5:126257800-126262800	Enhancers	Fetal Heart	heart
15	chr5:126257800-126267800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:126257800-126274000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:126258000-126260600	Weak transcription	Brain Germinal Matrix	brain
18	chr5:126258000-126261400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:126258000-126261800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:126258000-126261800	Weak transcription	Right Atrium	heart
21	chr5:126258000-126262000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:126258000-126262000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:126258000-126262000	Weak transcription	Right Ventricle	heart
24	chr5:126258000-126263200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:126258000-126263200	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:126258000-126266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:126258000-126266600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:126258000-126274800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:126258200-126261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:126258200-126266600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:126259200-126261400	Weak transcription	K562	blood
32	chr5:126259400-126261800	Weak transcription	Left Ventricle	heart
33	chr5:126259600-126261800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:126259800-126262200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:126260000-126261800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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