Variant report

Variant	rs574336177
Chromosome Location	chr8:99438884-99438885
allele	C/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	REST	chr8:99438735-99439646	K562	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
2	MAX	chr8:99438835-99439726	MCF-7	breast:	n/a	chr8:99438977-99438987 chr8:99439616-99439625
3	REST	chr8:99438749-99439715	SK-N-SH	brain:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
4	REST	chr8:99438285-99439821	MCF-7	breast:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
5	CREB1	chr8:99438884-99439356	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr8:99438323-99439467	ECC-1	luminal epithelium:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
7	REST	chr8:99438719-99439848	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
8	ZBTB7A	chr8:99438719-99439452	ECC-1	luminal epithelium:	n/a	chr8:99439077-99439088
9	REST	chr8:99438234-99439407	U87	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
10	REST	chr8:99438760-99439757	H1-hESC	embryonic stem cell:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
11	REST	chr8:99438819-99439653	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
12	REST	chr8:99438234-99439409	U87	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
13	MAX	chr8:99438861-99439779	ECC-1	luminal epithelium:	n/a	chr8:99438977-99438987 chr8:99439616-99439625
14	SUZ12	chr8:99438208-99440498	NT2-D1	testis:	n/a	n/a
15	REST	chr8:99438801-99439678	GM12878	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
16	REST	chr8:99438720-99439721	H1-hESC	embryonic stem cell:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
17	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
18	REST	chr8:99438689-99439745	HL-60	blood:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
19	MAZ	chr8:99438751-99439651	IMR90	lung:	n/a	chr8:99438977-99438987 chr8:99439616-99439625
20	REST	chr8:99438669-99439642	GM12878	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
21	REST	chr8:99438557-99439736	A549	lung:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
22	RCOR1	chr8:99438750-99439543	IMR90	lung:	n/a	n/a
23	HDAC2	chr8:99438850-99439454	MCF-7	breast:	n/a	n/a
24	MXI1	chr8:99438830-99439551	IMR90	lung:	n/a	n/a
25	REST	chr8:99438529-99439795	ECC-1	luminal epithelium:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
26	TEAD4	chr8:99438703-99439469	A549	lung:	n/a	n/a
27	TCF12	chr8:99438825-99439377	ECC-1	luminal epithelium:	n/a	chr8:99438868-99438875
28	REST	chr8:99438628-99439601	MCF-7	breast:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
29	REST	chr8:99438721-99439638	H1-neurons	neurons:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
30	REST	chr8:99438704-99439412	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
31	REST	chr8:99438829-99439721	HepG2	liver:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
32	REST	chr8:99438717-99439504	HepG2	liver:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
33	REST	chr8:99438067-99439733	PFSK-1	brain:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
34	MXI1	chr8:99438862-99439741	SK-N-SH	brain:	n/a	n/a
35	REST	chr8:99438714-99439658	PFSK-1	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
36	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
37	ZBTB7A	chr8:99438865-99439186	K562	blood:	n/a	chr8:99439077-99439088
38	REST	chr8:99438746-99438914	HepG2	liver:	n/a	n/a
39	REST	chr8:99438713-99439620	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
40	REST	chr8:99438625-99439616	K562	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
41	REST	chr8:99438829-99439706	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
42	REST	chr8:99438858-99439344	SK-N-SH	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
43	ZBTB7A	chr8:99438732-99439436	ECC-1	luminal epithelium:	n/a	chr8:99439077-99439088

Variant related genes	Relation type
KCNS2	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3340095	chr8:99438601-99441149	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99438000-99439200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
2	chr8:99438000-99440200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:99438000-99440600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:99438000-99440600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:99438000-99441200	ZNF genes & repeats	Spleen	Spleen
6	chr8:99438200-99440200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:99438400-99439000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
8	chr8:99438400-99439000	Bivalent Enhancer	Placenta	Placenta
9	chr8:99438400-99439000	Enhancers	Gastric	stomach
10	chr8:99438400-99439000	Flanking Active TSS	Pancreas	Pancrea
11	chr8:99438400-99439000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr8:99438400-99439200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:99438400-99439200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:99438400-99440400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:99438400-99440400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr8:99438400-99440600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr8:99438400-99440600	Bivalent Enhancer	Lung	lung
18	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr8:99438600-99439000	Bivalent Enhancer	Fetal Lung	lung
24	chr8:99438600-99439200	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:99438600-99439200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:99438600-99439400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
27	chr8:99438600-99439600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:99438600-99439600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:99438600-99439800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:99438600-99439800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr8:99438600-99440000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:99438600-99440000	Active TSS	NHDF-Ad	bronchial
33	chr8:99438600-99440200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr8:99438600-99440200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:99438600-99440200	Bivalent/Poised TSS	A549	lung
36	chr8:99438600-99440200	Bivalent/Poised TSS	Osteobl	bone
37	chr8:99438600-99440400	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr8:99438600-99440600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:99438600-99440800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:99438800-99439000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:99438800-99439000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:99438800-99439000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr8:99438800-99439000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr8:99438800-99439000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr8:99438800-99439000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr8:99438800-99439000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
47	chr8:99438800-99439000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr8:99438800-99439000	Bivalent Enhancer	Fetal Brain Male	brain
49	chr8:99438800-99439000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
50	chr8:99438800-99439000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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