Variant report

Variant	rs1869610
Chromosome Location	chr8:98945834-98945835
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98941165..98944316-chr8:98945321..98948446,3	K562	blood:
2	chr8:98929481..98932017-chr8:98944998..98947169,2	MCF-7	breast:
3	chr8:98905685..98907730-chr8:98945823..98947878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1869612	0.85[CEU][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1869610	C8orf47	cis	parietal	SCAN
rs1869610	FBXO43	cis	cerebellum	SCAN
rs1869610	SPAG1	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98930800-98950000	Weak transcription	Right Ventricle	heart
2	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
4	chr8:98940200-98947400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
6	chr8:98942200-98946200	Enhancers	Liver	Liver
7	chr8:98942200-98949200	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:98942400-98956200	Weak transcription	NHLF	lung
9	chr8:98943200-98946200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:98943200-98946600	Genic enhancers	Fetal Muscle Leg	muscle
11	chr8:98943200-98946800	Enhancers	Placenta	Placenta
12	chr8:98943800-98946600	Enhancers	NHEK	skin
13	chr8:98943800-98946800	Enhancers	Ovary	ovary
14	chr8:98944000-98946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:98944000-98946400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:98944000-98946400	Enhancers	Brain Substantia Nigra	brain
17	chr8:98944000-98946800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:98944000-98947200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:98944000-98954000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:98944200-98946200	Enhancers	Adipose Nuclei	Adipose
21	chr8:98944200-98946200	Enhancers	NH-A	brain
22	chr8:98944200-98946600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:98944200-98946600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:98944200-98947200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:98944400-98946000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:98944400-98946200	Enhancers	Brain Angular Gyrus	brain
27	chr8:98944400-98946200	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:98944400-98946200	Enhancers	Brain Hippocampus Middle	brain
29	chr8:98944400-98946400	Enhancers	Fetal Stomach	stomach
30	chr8:98944400-98946600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:98944400-98946600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:98944400-98946800	Enhancers	Fetal Lung	lung
33	chr8:98944400-98946800	Enhancers	HMEC	breast
34	chr8:98944400-98947000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:98944400-98947000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:98944400-98947400	Enhancers	Fetal Heart	heart
37	chr8:98944600-98946200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:98944600-98946400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr8:98944600-98946400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr8:98944600-98946800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:98944600-98957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:98944800-98946000	Weak transcription	Fetal Kidney	kidney
43	chr8:98944800-98946200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:98944800-98946200	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:98944800-98946600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:98944800-98947200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:98944800-98949200	Weak transcription	Osteobl	bone
48	chr8:98944800-98951600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:98944800-98956200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:98945000-98946600	Enhancers	H1 Cell Line	embryonic stem cell

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