Variant report

Variant	rs16868698
Chromosome Location	chr8:102920513-102920514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102504416..102506326-chr8:102917856..102920529,2	MCF-7	breast:
2	chr8:102916207..102919330-chr8:102919877..102923677,3	MCF-7	breast:
3	chr8:102915036..102919130-chr8:102919959..102923677,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16868555	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs562037	0.85[CEU][hapmap]
rs569787	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16868698	NCALD	cis	parietal	SCAN
rs16868698	STK3	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102915200-102938800	Weak transcription	Aorta	Aorta
2	chr8:102915400-102920800	Enhancers	Fetal Muscle Leg	muscle
3	chr8:102915400-102921200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:102916200-102932200	Weak transcription	Lung	lung
5	chr8:102916200-102942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:102918400-102921200	Enhancers	Ovary	ovary
7	chr8:102918400-102921200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:102918600-102921400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:102918800-102922800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:102919000-102923600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:102919400-102921000	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:102919600-102920600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:102919600-102921000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:102919800-102920600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:102919800-102920600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:102919800-102920600	Enhancers	Psoas Muscle	Psoas
17	chr8:102919800-102920800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:102919800-102920800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:102919800-102921000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:102919800-102921000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:102919800-102921000	Enhancers	NHDF-Ad	bronchial
22	chr8:102920000-102920600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:102920000-102920600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:102920000-102920600	Enhancers	Fetal Heart	heart
25	chr8:102920000-102920800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:102920000-102920800	Enhancers	HMEC	breast
27	chr8:102920000-102921000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:102920000-102921000	Enhancers	Colon Smooth Muscle	Colon
29	chr8:102920000-102921000	Enhancers	Fetal Brain Male	brain
30	chr8:102920000-102921000	Enhancers	Stomach Smooth Muscle	stomach
31	chr8:102920000-102921000	Flanking Active TSS	GM12878-XiMat	blood
32	chr8:102920200-102920600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:102920200-102920600	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:102920200-102920600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:102920200-102920600	Flanking Active TSS	HSMMtube	muscle
36	chr8:102920200-102921000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:102920200-102921400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:102920400-102920600	Enhancers	Fetal Stomach	stomach
39	chr8:102920400-102921000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:102920400-102921400	Enhancers	Primary T cells from cord blood	blood

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