Variant report

Variant	rs12676278
Chromosome Location	chr8:19354469-19354470
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:19354440-19354490	Hela-S3	cervix:	n/a
2	chr8:19354440-19354490	SAEC	small airway:	n/a
3	chr8:19354440-19354490	K562	blood:	n/a
4	chr8:19354440-19354490	ProgFib	skin:	n/a
5	chr8:19354440-19354490	PrEC	prostate:	n/a
6	chr8:19354440-19354490	ECC-1	luminal epithelium:	n/a
7	chr8:19354440-19354490	HNPCEpiC	eye:	n/a
8	chr8:19354440-19354490	Jurkat	blood:	n/a
9	chr8:19354440-19354490	SK-N-SH	brain:	n/a
10	chr8:19354440-19354490	HCF	heart:	n/a
11	chr8:19354440-19354490	Hepatocyte	liver:	n/a
12	chr8:19354440-19354490	HepG2	liver:	n/a
13	chr8:19354440-19354490	SK-N-MC	brain:	n/a
14	chr8:19354440-19354490	HEEpiC	esophagus:	n/a
15	chr8:19354440-19354490	T-47D	breast:	n/a
16	chr8:19354440-19354490	GM12878	blood:	n/a
17	chr8:19354440-19354490	ovcar-3	ovarian:	n/a
18	chr8:19354440-19354490	PFSK-1	brain:	n/a
19	chr8:19354440-19354490	BJ	skin:	n/a
20	chr8:19354440-19354490	HCM	heart:	n/a
21	chr8:19354440-19354490	HUVEC	blood vessel:	n/a
22	chr8:19354440-19354490	HCPEpiC	choroid plexus:	n/a
23	chr8:19354440-19354490	HRE	kidney:	n/a
24	chr8:19354440-19354490	CMK	blood:	n/a
25	chr8:19354440-19354490	RPTEC	kidney:	n/a
26	chr8:19354440-19354490	U87	brain:	n/a
27	chr8:19354440-19354490	GM12892	blood:	n/a
28	chr8:19354440-19354490	AoSMC	blood vessel:	n/a
29	chr8:19354440-19354490	AG09309	skin:	n/a
30	chr8:19354440-19354490	BE2_C	brain:	n/a
31	chr8:19354440-19354490	SKMC	muscle:	n/a
32	chr8:19354440-19354490	GM06990	blood:	n/a
33	chr8:19354440-19354490	MCF10A-Er-Src	breast:	n/a
34	chr8:19354440-19354490	HRCEpiC	kidney:	n/a
35	chr8:19354440-19354490	HEK293	kidney:	embryo
36	chr8:19354440-19354490	SK-N-SH_RA	brain:	n/a
37	chr8:19354440-19354490	HL-60	blood:	n/a
38	chr8:19354440-19354490	HCT-116	colon:	n/a
39	chr8:19354440-19354490	NHDF-neo	bronchial:	n/a
40	chr8:19354440-19354490	NB4	blood:	n/a
41	chr8:19354440-19354490	HRPEpiC	eye:	n/a
42	chr8:19354440-19354490	Caco-2	colon:	n/a
43	chr8:19354440-19354490	HMEC	breast:	n/a
44	chr8:19354440-19354490	HAEpiC	amniotic membrane:	n/a
45	chr8:19354440-19354490	NHBE	bronchial:	n/a
46	chr8:19354440-19354490	A549	lung:	n/a
47	chr8:19354440-19354490	HIPEpiC	eye:	n/a
48	chr8:19354440-19354490	GM19239	blood:	n/a
49	chr8:19354440-19354490	NH-A	brain:	n/a
50	chr8:19354440-19354490	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19352728..19355401-chr8:19358201..19360523,2	K562	blood:

No data

Variant related genes	Relation type
CSGALNACT1	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs4073791	0.82[AFR][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
rs12676278	CSGALNACT1	cis	Thyroid	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

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	chr8:19333400-19362200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:19338800-19370600	Weak transcription	Esophagus	oesophagus
5	chr8:19346400-19357000	Weak transcription	Fetal Lung	lung
6	chr8:19348000-19376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:19348200-19364000	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:19348200-19367400	Weak transcription	Fetal Brain Female	brain
9	chr8:19348600-19359000	Weak transcription	Fetal Brain Male	brain
10	chr8:19349800-19355000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:19350200-19362800	Weak transcription	Gastric	stomach
12	chr8:19351200-19369000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:19352000-19354600	Weak transcription	Right Ventricle	heart
14	chr8:19352000-19356800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:19352400-19356600	Enhancers	Fetal Thymus	thymus
16	chr8:19352400-19357400	Weak transcription	Hela-S3	cervix
17	chr8:19353200-19354600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:19353200-19358000	Weak transcription	Primary B cells from cord blood	blood
19	chr8:19353200-19362200	Weak transcription	Adipose Nuclei	Adipose
20	chr8:19353400-19355600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:19353400-19359600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:19353400-19367600	Weak transcription	Brain Anterior Caudate	brain
23	chr8:19353400-19367600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:19353600-19355200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:19353600-19355400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr8:19353800-19354600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:19353800-19354600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr8:19353800-19354600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr8:19353800-19354600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:19353800-19354800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:19353800-19355400	Bivalent Enhancer	Dnd41	blood
32	chr8:19353800-19356400	Enhancers	Thymus	Thymus
33	chr8:19354000-19354600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr8:19354000-19354600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr8:19354000-19354600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr8:19354000-19354800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr8:19354000-19354800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr8:19354000-19355000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:19354000-19355000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:19354000-19355400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr8:19354000-19356000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:19354000-19357400	Enhancers	Left Ventricle	heart
43	chr8:19354200-19354600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:19354200-19354600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:19354200-19354600	Enhancers	Lung	lung
46	chr8:19354200-19354600	Enhancers	Right Atrium	heart
47	chr8:19354200-19354800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:19354200-19354800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:19354200-19354800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:19354200-19354800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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