Variant report

Variant	rs11994059
Chromosome Location	chr8:19353597-19353598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10107533	0.90[ASN][1000 genomes]
rs1014481	0.90[ASN][1000 genomes]
rs1014482	0.90[ASN][1000 genomes]
rs10503650	0.82[ASN][1000 genomes]
rs11778525	0.89[ASN][1000 genomes]
rs11780905	0.89[ASN][1000 genomes]
rs11781106	1.00[ASN][1000 genomes]
rs11782907	0.89[ASN][1000 genomes]
rs11782972	0.89[ASN][1000 genomes]
rs11784776	1.00[ASN][1000 genomes]
rs11994933	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128602	0.82[ASN][1000 genomes]
rs17128626	0.90[ASN][1000 genomes]
rs17408078	0.90[ASN][1000 genomes]
rs17408321	0.90[ASN][1000 genomes]
rs17479581	1.00[ASN][1000 genomes]
rs17479749	1.00[ASN][1000 genomes]
rs17480050	0.90[ASN][1000 genomes]
rs4436140	0.89[ASN][1000 genomes]
rs4921659	0.82[ASN][1000 genomes]
rs4922040	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922042	1.00[ASN][1000 genomes]
rs4922050	1.00[ASN][1000 genomes]
rs4922054	0.90[ASN][1000 genomes]
rs4922057	0.90[ASN][1000 genomes]
rs4922060	0.82[ASN][1000 genomes]
rs55637382	1.00[ASN][1000 genomes]
rs55647560	0.89[ASN][1000 genomes]
rs55696969	0.82[ASN][1000 genomes]
rs55851368	1.00[ASN][1000 genomes]
rs55856414	1.00[ASN][1000 genomes]
rs55889457	1.00[ASN][1000 genomes]
rs55915417	0.89[ASN][1000 genomes]
rs56155045	0.90[ASN][1000 genomes]
rs56163568	1.00[ASN][1000 genomes]
rs57321774	1.00[ASN][1000 genomes]
rs7005625	0.90[ASN][1000 genomes]
rs73212558	1.00[ASN][1000 genomes]
rs73212568	1.00[ASN][1000 genomes]
rs73212569	1.00[ASN][1000 genomes]
rs73212582	1.00[ASN][1000 genomes]
rs73212587	0.89[ASN][1000 genomes]
rs73212588	0.89[ASN][1000 genomes]
rs73212595	0.82[ASN][1000 genomes]
rs73212598	0.82[ASN][1000 genomes]
rs73212600	0.82[ASN][1000 genomes]
rs73212602	0.82[ASN][1000 genomes]
rs73214608	0.90[ASN][1000 genomes]
rs73214610	0.90[ASN][1000 genomes]
rs7818871	1.00[ASN][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
rs11994059	CSGALNACT1	cis	brain	BrainEAC

Chromatin state (count:51 , 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	chr8:19341400-19354200	Weak transcription	Brain Substantia Nigra	brain
6	chr8:19346400-19357000	Weak transcription	Fetal Lung	lung
7	chr8:19348000-19376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:19348200-19364000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:19348200-19367400	Weak transcription	Fetal Brain Female	brain
10	chr8:19348600-19359000	Weak transcription	Fetal Brain Male	brain
11	chr8:19349600-19354000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:19349800-19355000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:19350200-19353600	Enhancers	Primary T cells from cord blood	blood
14	chr8:19350200-19354200	Weak transcription	A549	lung
15	chr8:19350200-19362800	Weak transcription	Gastric	stomach
16	chr8:19351000-19353800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:19351200-19369000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:19351400-19353800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:19351400-19354000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr8:19351600-19354000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:19352000-19354000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr8:19352000-19354200	Weak transcription	Lung	lung
23	chr8:19352000-19354400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:19352000-19354600	Weak transcription	Right Ventricle	heart
25	chr8:19352000-19356800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:19352400-19354000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:19352400-19356600	Enhancers	Fetal Thymus	thymus
28	chr8:19352400-19357400	Weak transcription	Hela-S3	cervix
29	chr8:19352600-19354200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:19352800-19353800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:19352800-19354200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:19353000-19353600	Enhancers	Left Ventricle	heart
33	chr8:19353000-19354200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:19353000-19354200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:19353000-19354200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:19353200-19354200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:19353200-19354200	Weak transcription	Pancreas	Pancrea
38	chr8:19353200-19354200	Weak transcription	Right Atrium	heart
39	chr8:19353200-19354400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:19353200-19354600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:19353200-19358000	Weak transcription	Primary B cells from cord blood	blood
42	chr8:19353200-19362200	Weak transcription	Adipose Nuclei	Adipose
43	chr8:19353400-19353600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr8:19353400-19353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:19353400-19353800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr8:19353400-19354400	Weak transcription	Brain Angular Gyrus	brain
47	chr8:19353400-19354400	Weak transcription	Placenta	Placenta
48	chr8:19353400-19355600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:19353400-19359600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:19353400-19367600	Weak transcription	Brain Anterior Caudate	brain

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