Variant report

Variant	rs17496928
Chromosome Location	chr8:102987217-102987218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1465164	1.00[ASN][1000 genomes]
rs1465165	1.00[ASN][1000 genomes]
rs1465166	1.00[ASN][1000 genomes]
rs16868899	1.00[ASN][1000 genomes]
rs16869130	1.00[ASN][1000 genomes]
rs16869132	1.00[ASN][1000 genomes]
rs17414892	1.00[ASN][1000 genomes]
rs17415702	1.00[ASN][1000 genomes]
rs17415729	1.00[ASN][1000 genomes]
rs17415778	1.00[ASN][1000 genomes]
rs17416694	1.00[ASN][1000 genomes]
rs17498430	1.00[ASN][1000 genomes]
rs17498920	1.00[ASN][1000 genomes]
rs17499768	1.00[ASN][1000 genomes]
rs17500046	1.00[ASN][1000 genomes]
rs17500151	1.00[ASN][1000 genomes]
rs17500306	1.00[ASN][1000 genomes]
rs17500367	1.00[ASN][1000 genomes]
rs17506740	1.00[ASN][1000 genomes]
rs17506775	1.00[ASN][1000 genomes]
rs17507464	1.00[ASN][1000 genomes]
rs17507512	1.00[ASN][1000 genomes]
rs3899035	1.00[ASN][1000 genomes]
rs72681127	1.00[ASN][1000 genomes]
rs72681128	1.00[ASN][1000 genomes]
rs72681129	1.00[ASN][1000 genomes]
rs72681131	1.00[ASN][1000 genomes]
rs72681134	1.00[ASN][1000 genomes]
rs72681136	1.00[ASN][1000 genomes]
rs72681138	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17496928	NCALD	cis	brain	BrainEAC
rs17496928	NCALD	cis	occipital cortex	BrainEAC
rs17496928	NCALD	cis	frontal cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102965400-102989800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:102976000-102992000	Weak transcription	Right Ventricle	heart
3	chr8:102980200-102988200	Weak transcription	Spleen	Spleen
4	chr8:102981000-102987400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:102981000-102992000	Weak transcription	Esophagus	oesophagus
6	chr8:102981400-102989800	Weak transcription	Aorta	Aorta
7	chr8:102983400-102991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:102983600-102991200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:102983600-102992000	Weak transcription	Left Ventricle	heart
10	chr8:102985600-102987800	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:102985800-102987600	Enhancers	Psoas Muscle	Psoas
12	chr8:102985800-102989800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:102986000-102988000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:102986200-102988000	Enhancers	NHEK	skin
15	chr8:102986400-102988000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:102986400-102990400	Weak transcription	Fetal Heart	heart
17	chr8:102986600-102987400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:102986600-102987800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:102987000-102988000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:102987000-102988000	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:102987000-102988200	Weak transcription	Ovary	ovary
22	chr8:102987200-102988200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:102987200-102991000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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