Variant report

Variant	rs12678270
Chromosome Location	chr8:19280152-19280153
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19277038..19281251-chr8:19291957..19296139,6	MCF-7	breast:
2	chr8:19277703..19280587-chr8:19673604..19675691,2	MCF-7	breast:
3	chr8:19279205..19280725-chr8:19282957..19284991,2	MCF-7	breast:
4	chr8:19250624..19252253-chr8:19278071..19280597,2	MCF-7	breast:
5	chr8:19278872..19281688-chr8:19614023..19616440,2	MCF-7	breast:
6	chr8:19279133..19281862-chr8:19291415..19293117,2	MCF-7	breast:
7	chr8:19242205..19244006-chr8:19278018..19280967,2	MCF-7	breast:
8	chr8:19277716..19280530-chr8:19280967..19283858,2	MCF-7	breast:
9	chr8:19263579..19266063-chr8:19277722..19281368,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147408	Chromatin interaction
ENSG00000104613	Chromatin interaction

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

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

rs_ID	r²[population]
rs10464993	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	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
6	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	nsv610751	chr8:19226335-19284889	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv610752	chr8:19254816-19311496	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv1022344	chr8:19270143-19324083	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12678270	CSGALNACT1	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19266600-19283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:19267200-19297000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:19267400-19280800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:19267400-19281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:19267400-19283600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:19267600-19281000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:19267800-19281800	Weak transcription	Brain Anterior Caudate	brain
8	chr8:19267800-19295600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:19268000-19283800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:19270200-19288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:19270400-19283000	Weak transcription	Brain Angular Gyrus	brain
12	chr8:19271000-19284200	Weak transcription	Thymus	Thymus
13	chr8:19271600-19281400	Weak transcription	Lung	lung
14	chr8:19271800-19281600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:19271800-19283400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:19271800-19305200	Weak transcription	Pancreas	Pancrea
17	chr8:19272800-19281200	Weak transcription	Fetal Lung	lung
18	chr8:19274800-19280600	Strong transcription	Primary T cells from cord blood	blood
19	chr8:19275800-19287200	Weak transcription	Gastric	stomach
20	chr8:19275800-19288600	Weak transcription	Aorta	Aorta
21	chr8:19275800-19295600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:19276200-19281400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:19276200-19281400	Weak transcription	Right Ventricle	heart
24	chr8:19276200-19283400	Weak transcription	Ovary	ovary
25	chr8:19276800-19280400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:19277400-19283200	Strong transcription	A549	lung
27	chr8:19277600-19281000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:19277600-19281400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:19277600-19295600	Weak transcription	Hela-S3	cervix
30	chr8:19277600-19307800	Weak transcription	Fetal Stomach	stomach
31	chr8:19277800-19281600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:19277800-19283600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:19277800-19300200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr8:19278000-19280800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:19278000-19281400	Weak transcription	Spleen	Spleen
36	chr8:19278000-19283200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:19278000-19304800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:19278200-19280800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:19278200-19281000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:19278200-19281400	Weak transcription	Left Ventricle	heart
41	chr8:19278600-19280400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:19278600-19281400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:19278600-19283600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:19278600-19283800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:19279000-19282200	Weak transcription	Esophagus	oesophagus
46	chr8:19279600-19280400	Enhancers	Placenta	Placenta
47	chr8:19279600-19282400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:19279600-19290600	Weak transcription	Primary B cells from cord blood	blood

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