Variant report

Variant	rs17001357
Chromosome Location	chr4:77007912-77007913
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	chr4:77006287..77011420-chr4:77011515..77015802,5	K562	blood:
2	chr4:76931634..76933510-chr4:77007552..77010198,2	K562	blood:

Variant related genes	Relation type
ENSG00000156219	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10015467	0.80[CHD][hapmap]
rs12499900	0.82[YRI][hapmap]
rs12510869	0.96[YRI][hapmap]
rs13130116	0.92[YRI][hapmap]
rs13134119	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13134121	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs17001409	0.92[YRI][hapmap]
rs17001416	0.85[YRI][hapmap]
rs4077787	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859422	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4859423	0.92[YRI][hapmap]
rs4859425	0.89[YRI][hapmap]
rs4859611	0.91[ASN][1000 genomes]
rs6532189	0.80[CHD][hapmap]
rs66828967	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829592	0.86[YRI][hapmap]
rs6856609	0.86[YRI][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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17001357	NAAA	cis	Esophagus Mucosa	GTEx
rs17001357	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs17001357	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs17001357	CXCL10	cis	lymphoblastoid	seeQTL
rs17001357	NAAA	cis	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76997000-77008000	Weak transcription	Brain Angular Gyrus	brain
2	chr4:76999000-77008200	Weak transcription	Right Ventricle	heart
3	chr4:76999600-77008000	Weak transcription	Liver	Liver
4	chr4:77003800-77008000	Weak transcription	Brain Anterior Caudate	brain
5	chr4:77003800-77008000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:77003800-77008000	Weak transcription	K562	blood
7	chr4:77003800-77008200	Weak transcription	Fetal Thymus	thymus
8	chr4:77004800-77008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:77004800-77008000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:77004800-77008000	Weak transcription	Right Atrium	heart
11	chr4:77005000-77008000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:77005000-77008000	Weak transcription	NHEK	skin
13	chr4:77005000-77008200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:77005800-77008000	Enhancers	Fetal Heart	heart
15	chr4:77006600-77008000	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:77007200-77008000	Weak transcription	Left Ventricle	heart
17	chr4:77007200-77008000	Weak transcription	Psoas Muscle	Psoas
18	chr4:77007200-77008400	Enhancers	Fetal Brain Male	brain
19	chr4:77007800-77008000	Enhancers	Brain Hippocampus Middle	brain
20	chr4:77007800-77008000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:77007800-77008000	Enhancers	Brain Substantia Nigra	brain
22	chr4:77007800-77008400	Enhancers	HMEC	breast
23	chr4:77007800-77008600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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