Variant report

Variant	rs4623445
Chromosome Location	chr8:19347184-19347185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11780475	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13261442	0.91[AFR][1000 genomes]
rs13280711	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4073791	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	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
rs4623445	CSGALNACT1	cis	Thyroid	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19310600-19359600	Weak transcription	Ovary	ovary
2	chr8:19319600-19362800	Weak transcription	Spleen	Spleen
3	chr8:19331000-19352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19333400-19362200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:19334600-19347400	Weak transcription	Right Atrium	heart
6	chr8:19338000-19351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:19338800-19347200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:19338800-19370600	Weak transcription	Esophagus	oesophagus
9	chr8:19339000-19347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:19339000-19351800	Weak transcription	Primary B cells from cord blood	blood
11	chr8:19339400-19352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:19340000-19348400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:19340000-19352800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:19341000-19347200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:19341200-19347600	Weak transcription	Placenta	Placenta
16	chr8:19341200-19351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:19341400-19354200	Weak transcription	Brain Substantia Nigra	brain
18	chr8:19341600-19347400	Weak transcription	Right Ventricle	heart
19	chr8:19341800-19351600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:19342600-19347600	Weak transcription	Left Ventricle	heart
21	chr8:19343800-19348600	Enhancers	Fetal Brain Male	brain
22	chr8:19344000-19349600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:19344000-19351800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:19344400-19351600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:19345000-19347600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:19345000-19349600	Weak transcription	Gastric	stomach
27	chr8:19345200-19347600	Weak transcription	Brain Anterior Caudate	brain
28	chr8:19345200-19353000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:19345400-19349200	Weak transcription	Stomach Mucosa	stomach
30	chr8:19346200-19347200	Weak transcription	Fetal Brain Female	brain
31	chr8:19346200-19348200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:19346200-19348200	Enhancers	A549	lung
33	chr8:19346400-19348400	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:19346400-19357000	Weak transcription	Fetal Lung	lung
35	chr8:19346800-19347200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:19346800-19347200	Enhancers	Primary T cells from cord blood	blood
37	chr8:19347000-19348200	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links