Variant report

Variant	rs10103296
Chromosome Location	chr8:99304803-99304804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24719766..24721631-chr8:99304778..99307612,2	MCF-7	breast:
2	chr2:86421327..86423660-chr8:99303877..99305553,2	MCF-7	breast:
3	chr8:99268498..99270125-chr8:99304493..99306016,2	MCF-7	breast:
4	chr8:99304071..99306084-chr8:99410525..99412832,2	MCF-7	breast:
5	chr6:26204334..26206803-chr8:99304596..99307549,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273080	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000132305	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs7461545	1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][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	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	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10103296	NPAL2	cis	multi-tissue	Pritchard
rs10103296	NIPAL2	cis	Whole Blood	GTEx
rs10103296	NPAL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99287600-99305000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:99290800-99305400	Weak transcription	Aorta	Aorta
3	chr8:99291400-99305400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:99294800-99305400	Weak transcription	Right Atrium	heart
5	chr8:99296400-99305400	Weak transcription	Ovary	ovary
6	chr8:99296400-99305600	Weak transcription	Left Ventricle	heart
7	chr8:99296400-99305600	Weak transcription	Lung	lung
8	chr8:99296400-99305600	Weak transcription	Pancreas	Pancrea
9	chr8:99297800-99305400	Weak transcription	Esophagus	oesophagus
10	chr8:99298400-99305400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:99302400-99305400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:99303400-99305200	Enhancers	Fetal Intestine Small	intestine
13	chr8:99303400-99305200	Enhancers	HepG2	liver
14	chr8:99303600-99305000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:99303600-99305200	Enhancers	Fetal Intestine Large	intestine
16	chr8:99304000-99305000	Enhancers	Stomach Smooth Muscle	stomach
17	chr8:99304000-99305000	Enhancers	HUVEC	blood vessel
18	chr8:99304000-99305200	Enhancers	Adipose Nuclei	Adipose
19	chr8:99304000-99305200	Enhancers	Fetal Lung	lung
20	chr8:99304000-99305200	Enhancers	Osteobl	bone
21	chr8:99304000-99305400	Enhancers	Liver	Liver
22	chr8:99304200-99305200	Weak transcription	Fetal Stomach	stomach
23	chr8:99304200-99307400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr8:99304400-99305200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:99304400-99305200	Enhancers	Duodenum Mucosa	Duodenum
26	chr8:99304400-99305400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:99304400-99305400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:99304400-99305400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:99304400-99305400	Weak transcription	Stomach Mucosa	stomach
30	chr8:99304600-99305000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:99304600-99305000	Weak transcription	Fetal Heart	heart
32	chr8:99304600-99305000	Flanking Active TSS	NHDF-Ad	bronchial
33	chr8:99304600-99305000	Enhancers	NHEK	skin
34	chr8:99304600-99305200	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:99304600-99305200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:99304600-99305200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:99304600-99305400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:99304600-99305400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:99304600-99305800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:99304600-99306000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:99304600-99306600	Active TSS	GM12878-XiMat	blood
42	chr8:99304600-99307400	Active TSS	Brain Anterior Caudate	brain
43	chr8:99304800-99305000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr8:99304800-99305000	Flanking Active TSS	HMEC	breast
45	chr8:99304800-99305200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:99304800-99305600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:99304800-99306400	Active TSS	NHLF	lung
48	chr8:99304800-99306800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:99304800-99306800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:99304800-99306800	Active TSS	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links