Variant report

Variant	rs145927482
Chromosome Location	chr8:99438556-99438557
allele	A/C
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	chr8:99438285-99439821	MCF-7	breast:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
2	REST	chr8:99438323-99439467	ECC-1	luminal epithelium:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
3	REST	chr8:99438234-99439407	U87	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
4	REST	chr8:99438547-99438649	PANC-1	pancreas:	n/a	n/a
5	REST	chr8:99438234-99439409	U87	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
6	SUZ12	chr8:99438208-99440498	NT2-D1	testis:	n/a	n/a
7	REST	chr8:99437276-99439817	HL-60	blood:	n/a	chr8:99437979-99437987 chr8:99439169-99439187 chr8:99439695-99439708 chr8:99437470-99437479 chr8:99439168-99439177 chr8:99438935-99438945
8	REST	chr8:99438368-99438586	SK-N-SH	brain:	n/a	n/a
9	REST	chr8:99438529-99439795	ECC-1	luminal epithelium:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
10	REST	chr8:99438067-99439733	PFSK-1	brain:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
11	REST	chr8:99438325-99438694	GM12878	blood:	n/a	n/a
12	REST	chr8:99437679-99440569	PFSK-1	brain:	n/a	chr8:99437979-99437987 chr8:99440055-99440069 chr8:99439169-99439187 chr8:99439695-99439708 chr8:99440143-99440150 chr8:99439168-99439177 chr8:99438935-99438945
13	REST	chr8:99438347-99438735	PANC-1	pancreas:	n/a	n/a
14	REST	chr8:99437802-99438661	PFSK-1	brain:	n/a	chr8:99437979-99437987

Variant related genes	Relation type
KCNS2	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1034492	chr8:99436341-99456516	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3411915	chr8:99438076-99441174	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99437800-99438600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:99438000-99439200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
3	chr8:99438000-99440200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:99438000-99440600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:99438000-99440600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:99438000-99441200	ZNF genes & repeats	Spleen	Spleen
7	chr8:99438200-99438600	Bivalent Enhancer	Fetal Heart	heart
8	chr8:99438200-99438600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr8:99438200-99438800	Bivalent Enhancer	Fetal Stomach	stomach
10	chr8:99438200-99440200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:99438400-99438600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr8:99438400-99438600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:99438400-99438600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:99438400-99438600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:99438400-99438600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:99438400-99438600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:99438400-99438600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr8:99438400-99438600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr8:99438400-99438600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:99438400-99438600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr8:99438400-99438600	Bivalent/Poised TSS	Fetal Brain Male	brain
22	chr8:99438400-99438600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
23	chr8:99438400-99438800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr8:99438400-99438800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr8:99438400-99438800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:99438400-99438800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:99438400-99438800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:99438400-99438800	Bivalent Enhancer	Colon Smooth Muscle	Colon
29	chr8:99438400-99438800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr8:99438400-99438800	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr8:99438400-99438800	Flanking Active TSS	Ovary	ovary
32	chr8:99438400-99438800	Bivalent/Poised TSS	Right Ventricle	heart
33	chr8:99438400-99438800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr8:99438400-99439000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr8:99438400-99439000	Bivalent Enhancer	Placenta	Placenta
36	chr8:99438400-99439000	Enhancers	Gastric	stomach
37	chr8:99438400-99439000	Flanking Active TSS	Pancreas	Pancrea
38	chr8:99438400-99439000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
39	chr8:99438400-99439200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:99438400-99439200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:99438400-99440400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr8:99438400-99440400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr8:99438400-99440600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr8:99438400-99440600	Bivalent Enhancer	Lung	lung

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