Variant report

Variant	rs2433150
Chromosome Location	chr8:6502152-6502153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr8:6502111-6502963	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr8:6501959-6502964	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr8:6502130-6502984	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr8:6501997-6503119	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr8:6502099-6502935	GM12878	blood:	n/a	n/a
6	RUNX3	chr8:6502010-6502911	GM12878	blood:	n/a	n/a
7	JUND	chr8:6501975-6503060	SK-N-SH	brain:	n/a	chr8:6502507-6502518
8	PBX3	chr8:6502090-6502957	SK-N-SH	brain:	n/a	n/a
9	MTA3	chr8:6502131-6502863	GM12878	blood:	n/a	n/a
10	FOSL1	chr8:6502140-6502987	HCT-116	colon:	n/a	n/a
11	EP300	chr8:6502075-6503041	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr8:6502130-6502918	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr8:6502040-6502953	SK-N-SH	brain:	n/a	n/a
14	JUND	chr8:6502128-6502954	SK-N-SH	brain:	n/a	chr8:6502507-6502518
15	NFIC	chr8:6502070-6503079	SK-N-SH	brain:	n/a	n/a
16	JUND	chr8:6502043-6502966	SK-N-SH	brain:	n/a	chr8:6502507-6502518

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6498880..6501314-chr8:6501971..6503524,2	K562	blood:

Variant related genes	Relation type
ENSG00000271927	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11994063	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1834451	1.00[CHD][hapmap]
rs2042670	1.00[CHB][hapmap]
rs2515563	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2912063	1.00[CHD][hapmap]
rs2980654	0.93[CHD][hapmap]
rs3020263	1.00[CHD][hapmap]
rs3020264	1.00[CHD][hapmap]
rs7838511	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
12	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv610005	chr8:6490665-6535690	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1024024	chr8:6490665-6555558	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2761219	chr8:6494655-6505115	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv890059	chr8:6498174-6554615	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv524670	chr8:6500544-6539987	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2433150	SYTL1	trans	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6474200-6505200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:6476400-6502800	Weak transcription	Colonic Mucosa	Colon
3	chr8:6480200-6502600	Weak transcription	Gastric	stomach
4	chr8:6480200-6523800	Weak transcription	Fetal Brain Female	brain
5	chr8:6480400-6502200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:6480400-6505400	Weak transcription	Lung	lung
7	chr8:6482000-6503600	Weak transcription	Esophagus	oesophagus
8	chr8:6483800-6504400	Weak transcription	Liver	Liver
9	chr8:6484000-6502200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:6484400-6502400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:6484400-6503000	Weak transcription	Spleen	Spleen
12	chr8:6484400-6503400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:6484800-6505200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:6485000-6502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:6485000-6504400	Weak transcription	Fetal Intestine Large	intestine
16	chr8:6485400-6503800	Weak transcription	Fetal Stomach	stomach
17	chr8:6495000-6502200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:6496600-6502600	Weak transcription	Pancreas	Pancrea
19	chr8:6496600-6503800	Weak transcription	Ovary	ovary
20	chr8:6498400-6503200	Enhancers	HSMM	muscle
21	chr8:6498600-6502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:6498600-6504600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:6499000-6502200	Strong transcription	Fetal Thymus	thymus
24	chr8:6499600-6502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:6499600-6503200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:6499800-6502800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:6499800-6503800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:6500000-6502200	Weak transcription	Adipose Nuclei	Adipose
29	chr8:6500000-6502200	Weak transcription	Placenta	Placenta
30	chr8:6500200-6502200	Strong transcription	Primary T cells from cord blood	blood
31	chr8:6500200-6502400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:6500600-6502200	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:6500600-6502600	Weak transcription	Thymus	Thymus
34	chr8:6500600-6503000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:6500800-6503000	Enhancers	Brain Substantia Nigra	brain
36	chr8:6500800-6503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:6500800-6508000	Weak transcription	Fetal Heart	heart
38	chr8:6501200-6502200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:6501200-6502200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:6501400-6502200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:6501400-6502200	Enhancers	Right Atrium	heart
42	chr8:6501400-6502800	Strong transcription	Fetal Intestine Small	intestine
43	chr8:6501400-6502800	Enhancers	Left Ventricle	heart
44	chr8:6501400-6503000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:6501400-6503200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:6501400-6503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:6501400-6504000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:6501600-6502600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:6501600-6504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:6501800-6502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links