Variant report

Variant	rs4851212
Chromosome Location	chr2:100167239-100167240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1901284	0.82[AMR][1000 genomes]
rs3087403	0.84[GIH][hapmap]
rs6746402	0.80[AMR][1000 genomes]
rs737094	0.88[GIH][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4851212	TSGA10	cis	parietal	SCAN
rs4851212	FAM178B	cis	cerebellum	SCAN
rs4851212	AFF3	cis	temporal cortex	BrainEAC
rs4851212	LIPT1	cis	parietal	SCAN
rs4851212	AFF3	cis	brain	BrainEAC
rs4851212	AFF3	cis	cerebellar cortex	BrainEAC
rs4851212	TSGA10	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100158600-100189200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:100159000-100173400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:100161000-100172400	Strong transcription	Primary B cells from cord blood	blood
4	chr2:100161000-100181600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:100161200-100190200	Weak transcription	Right Atrium	heart
6	chr2:100161400-100168400	Weak transcription	Left Ventricle	heart
7	chr2:100161600-100172800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:100161800-100187800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:100161800-100211200	Weak transcription	Fetal Kidney	kidney
10	chr2:100162000-100174400	Strong transcription	Primary T cells from cord blood	blood
11	chr2:100162200-100169000	Weak transcription	Fetal Heart	heart
12	chr2:100162400-100170800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:100162400-100171800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:100162600-100193400	Weak transcription	Liver	Liver
15	chr2:100162800-100219200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:100163000-100167400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:100163200-100203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:100163600-100171000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:100163800-100174800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:100164000-100204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:100164400-100172000	Weak transcription	Right Ventricle	heart
22	chr2:100164400-100172400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:100164800-100170800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:100165000-100170800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:100165200-100167800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:100165200-100175400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:100165200-100190000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:100165400-100167600	Weak transcription	Gastric	stomach
29	chr2:100165400-100170800	Weak transcription	Pancreas	Pancrea
30	chr2:100165400-100171400	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:100165600-100167600	Strong transcription	Fetal Brain Female	brain
32	chr2:100165600-100171000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:100165800-100185600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:100166000-100167600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:100166000-100168200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:100166200-100167800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:100166200-100169000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:100166400-100171000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:100166400-100171400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:100166400-100171400	Strong transcription	Adipose Nuclei	Adipose
41	chr2:100166400-100175600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:100166600-100167400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:100166600-100167400	Genic enhancers	Thymus	Thymus
44	chr2:100166600-100167600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:100166600-100168000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:100166600-100168000	Strong transcription	Aorta	Aorta
47	chr2:100166600-100169200	Strong transcription	Fetal Stomach	stomach
48	chr2:100166600-100169200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:100166600-100171200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:100166800-100167600	Enhancers	HUES6 Cell Line	embryonic stem cell

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