Variant report

Variant	rs9478508
Chromosome Location	chr6:150469949-150469950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150469308..150480268-chr6:150484066..150492629,15	K562	blood:
2	chr6:150469487..150471945-chr6:150477081..150478644,2	K562	blood:

Variant related genes	Relation type
ENSG00000238594	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55650377	1.00[AMR][1000 genomes]
rs57327189	1.00[AMR][1000 genomes]
rs58085182	1.00[AMR][1000 genomes]
rs58763378	1.00[AMR][1000 genomes]
rs58946697	1.00[AMR][1000 genomes]
rs59602990	1.00[AMR][1000 genomes]
rs73782211	1.00[AFR][1000 genomes]
rs73782213	1.00[AFR][1000 genomes]
rs73782244	1.00[AMR][1000 genomes]
rs877114	1.00[AMR][1000 genomes]
rs9885596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9885598	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	nsv886770	chr6:150395424-150499889	Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026690	chr6:150419115-150485583	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150465600-150471600	Weak transcription	Psoas Muscle	Psoas
2	chr6:150465600-150471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:150467000-150470200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:150467000-150470200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:150467800-150472600	Enhancers	NHEK	skin
6	chr6:150467800-150473400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:150467800-150473400	Weak transcription	Right Atrium	heart
8	chr6:150468000-150470800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:150468000-150471200	Genic enhancers	K562	blood
10	chr6:150468200-150472800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:150468400-150470000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:150468800-150470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:150469000-150471200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:150469400-150470200	Enhancers	Placenta	Placenta
15	chr6:150469400-150470600	Enhancers	Left Ventricle	heart
16	chr6:150469400-150470800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr6:150469400-150470800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:150469400-150472200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:150469600-150470000	Genic enhancers	HMEC	breast
20	chr6:150469600-150470400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:150469600-150471600	Enhancers	Fetal Heart	heart
22	chr6:150469800-150471600	Weak transcription	Right Ventricle	heart

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