Variant report

Variant	rs1703985
Chromosome Location	chr8:8558536-8558537
allele	A/G
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	MXI1	chr8:8558335-8559836	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CLDN23	TF binding region
ENSG00000176305	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59065573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73664807	1.00[AMR][1000 genomes]
rs73664809	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv1033340	chr8:8522963-8565946	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv539458	chr8:8522963-8565946	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1028237	chr8:8532992-8588470	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8556200-8558600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:8556600-8558600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:8556800-8558800	Weak transcription	Stomach Mucosa	stomach
4	chr8:8557200-8559000	Weak transcription	Gastric	stomach
5	chr8:8558000-8558600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:8558400-8558600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:8558400-8558600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:8558400-8558600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:8558400-8558600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:8558400-8558600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:8558400-8558600	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr8:8558400-8558600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:8558400-8558600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:8558400-8558600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:8558400-8558600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:8558400-8558600	Enhancers	Adipose Nuclei	Adipose
17	chr8:8558400-8558600	Enhancers	Liver	Liver
18	chr8:8558400-8558600	Enhancers	Brain Anterior Caudate	brain
19	chr8:8558400-8558600	Enhancers	Brain Substantia Nigra	brain
20	chr8:8558400-8558600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr8:8558400-8558600	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr8:8558400-8558600	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr8:8558400-8558600	Bivalent Enhancer	Fetal Kidney	kidney
24	chr8:8558400-8558600	Enhancers	Ovary	ovary
25	chr8:8558400-8558600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:8558400-8558600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr8:8558400-8558600	Enhancers	HMEC	breast
28	chr8:8558400-8558800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:8558400-8558800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:8558400-8558800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr8:8558400-8558800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr8:8558400-8558800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:8558400-8558800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:8558400-8558800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:8558400-8558800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr8:8558400-8558800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr8:8558400-8558800	Bivalent Enhancer	Fetal Thymus	thymus
38	chr8:8558400-8558800	Enhancers	Pancreas	Pancrea
39	chr8:8558400-8558800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:8558400-8559000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:8558400-8559800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr8:8558400-8559800	Active TSS	Rectal Smooth Muscle	rectum
43	chr8:8558400-8559800	Active TSS	GM12878-XiMat	blood
44	chr8:8558400-8560000	Active TSS	Fetal Lung	lung
45	chr8:8558400-8560000	Active TSS	Hela-S3	cervix
46	chr8:8558400-8560200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr8:8558400-8560200	Active TSS	A549	lung
48	chr8:8558400-8560200	Active TSS	NHLF	lung
49	chr8:8558400-8560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:8558400-8562800	Active TSS	Rectal Mucosa Donor 29	rectum

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