Variant report

Variant	rs1021435
Chromosome Location	chr8:19577267-19577268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10085966	1.00[ASN][1000 genomes]
rs1492636	0.81[EUR][1000 genomes]
rs1967103	0.81[EUR][1000 genomes]
rs4921667	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1021225	chr8:19554860-19586580	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1021435	CSGALNACT1	cis	Whole Blood	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19563200-19578200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:19569000-19577600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:19572000-19577600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:19573200-19577600	Enhancers	Primary T cells from cord blood	blood
5	chr8:19573200-19578400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:19573200-19579000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:19573200-19579000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:19573400-19577600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:19573800-19577600	Weak transcription	Gastric	stomach
10	chr8:19573800-19578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:19573800-19580000	Weak transcription	Pancreas	Pancrea
12	chr8:19574400-19578200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:19574400-19578200	Enhancers	HMEC	breast
14	chr8:19574400-19578600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:19574800-19578400	Enhancers	Right Ventricle	heart
16	chr8:19574800-19578800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:19574800-19578800	Enhancers	Placenta	Placenta
18	chr8:19575000-19578400	Enhancers	Left Ventricle	heart
19	chr8:19575000-19578400	Enhancers	Osteobl	bone
20	chr8:19575200-19577600	Enhancers	NH-A	brain
21	chr8:19575200-19578000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:19575400-19577400	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:19575400-19587200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:19575600-19577800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:19576000-19578200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:19576000-19578800	Enhancers	A549	lung
28	chr8:19576200-19577400	Enhancers	NHDF-Ad	bronchial
29	chr8:19576200-19577800	Enhancers	NHEK	skin
30	chr8:19576200-19578200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:19576200-19578400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:19576200-19578800	Enhancers	Right Atrium	heart
33	chr8:19576400-19577400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr8:19576400-19577400	Enhancers	HSMMtube	muscle
35	chr8:19576400-19579000	Weak transcription	Thymus	Thymus
36	chr8:19576400-19580000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:19576400-19591800	Weak transcription	Primary B cells from cord blood	blood
38	chr8:19576600-19577800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:19576600-19578400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr8:19576800-19577400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:19576800-19577400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
42	chr8:19576800-19577600	Enhancers	Ovary	ovary
43	chr8:19576800-19578000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr8:19576800-19578200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:19576800-19578600	Weak transcription	Fetal Brain Female	brain
46	chr8:19576800-19579000	Enhancers	Fetal Heart	heart
47	chr8:19577000-19577400	Flanking Active TSS	Hela-S3	cervix
48	chr8:19577000-19577600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:19577200-19577400	Enhancers	Fetal Thymus	thymus
50	chr8:19577200-19577800	Enhancers	Brain Inferior Temporal Lobe	brain

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