Variant report

Variant	rs59296505
Chromosome Location	chr8:19459441-19459442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:19459337-19460500	H1-neurons	neurons:	n/a	chr8:19459742-19459749

Variant related genes	Relation type
CSGALNACT1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10888166	1.00[ASN][1000 genomes]
rs11204057	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244454	1.00[ASN][1000 genomes]
rs4631480	0.93[EUR][1000 genomes]
rs4633073	1.00[ASN][1000 genomes]
rs58499968	0.84[EUR][1000 genomes]
rs59047686	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016845	1.00[ASN][1000 genomes]
rs73214643	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214644	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831489	1.00[ASN][1000 genomes]
rs7841402	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	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	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
5	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
6	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	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
10	nsv610756	chr8:19434021-19471977	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19437800-19459600	Weak transcription	Right Ventricle	heart
2	chr8:19445600-19459600	Weak transcription	Placenta	Placenta
3	chr8:19445600-19461400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:19445600-19481400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:19448000-19459800	Weak transcription	Gastric	stomach
6	chr8:19451000-19459800	Weak transcription	Lung	lung
7	chr8:19453600-19459800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:19454200-19460800	Weak transcription	Hela-S3	cervix
9	chr8:19455800-19459800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:19456200-19479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:19457400-19460400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr8:19457600-19460400	Active TSS	Brain Angular Gyrus	brain
13	chr8:19457600-19465000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:19457600-19472200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:19457800-19459600	Weak transcription	Left Ventricle	heart
16	chr8:19458000-19459600	Weak transcription	Aorta	Aorta
17	chr8:19458200-19460400	Active TSS	A549	lung
18	chr8:19458400-19459800	Weak transcription	Thymus	Thymus
19	chr8:19458400-19460400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:19458600-19459800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:19458600-19460000	Active TSS	Ovary	ovary
22	chr8:19458600-19460400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr8:19459000-19459600	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr8:19459000-19459800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr8:19459000-19460200	Active TSS	Brain Substantia Nigra	brain
26	chr8:19459200-19459600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:19459200-19459600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:19459200-19459600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:19459200-19459600	Enhancers	Adipose Nuclei	Adipose
30	chr8:19459200-19459600	Enhancers	Colon Smooth Muscle	Colon
31	chr8:19459200-19459600	Weak transcription	Spleen	Spleen
32	chr8:19459200-19459600	Enhancers	NHLF	lung
33	chr8:19459200-19459800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr8:19459200-19459800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr8:19459200-19460000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr8:19459200-19460200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:19459200-19460200	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:19459200-19460200	Active TSS	Fetal Brain Female	brain
39	chr8:19459200-19460400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:19459200-19460400	Active TSS	Psoas Muscle	Psoas
41	chr8:19459400-19459600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr8:19459400-19459600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr8:19459400-19459600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr8:19459400-19459600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:19459400-19459600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:19459400-19459600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr8:19459400-19459600	Bivalent/Poised TSS	Fetal Heart	heart
48	chr8:19459400-19459600	Enhancers	Fetal Lung	lung
49	chr8:19459400-19459600	Bivalent/Poised TSS	Fetal Stomach	stomach
50	chr8:19459400-19459600	Active TSS	HMEC	breast

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