Variant report

Variant	rs562674428
Chromosome Location	chr8:99439088-99439089
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	UBTF	chr8:99438988-99439342	K562	blood:	n/a	n/a
2	REST	chr8:99438953-99439383	SK-N-SH	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177
3	PAX5	chr8:99439012-99439320	GM12892	blood:	n/a	n/a
4	MXI1	chr8:99439032-99439322	HepG2	liver:	n/a	n/a
5	ZBTB7A	chr8:99438990-99439167	HepG2	liver:	n/a	chr8:99439077-99439088
6	REST	chr8:99438735-99439646	K562	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
7	MAZ	chr8:99439056-99439234	GM12878	blood:	n/a	n/a
8	MAX	chr8:99438835-99439726	MCF-7	breast:	n/a	chr8:99438977-99438987 chr8:99439616-99439625
9	E2F6	chr8:99438948-99439696	H1-hESC	embryonic stem cell:	n/a	chr8:99439124-99439134 chr8:99439519-99439526 chr8:99439518-99439526 chr8:99439372-99439382 chr8:99439518-99439530 chr8:99439519-99439526 chr8:99439121-99439131 chr8:99439518-99439527 chr8:99439234-99439246 chr8:99439519-99439526 chr8:99439118-99439128 chr8:99439671-99439681
10	REST	chr8:99438749-99439715	SK-N-SH	brain:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
11	MXI1	chr8:99439030-99439324	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr8:99438285-99439821	MCF-7	breast:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
13	CREB1	chr8:99438884-99439356	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr8:99438323-99439467	ECC-1	luminal epithelium:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
15	REST	chr8:99438719-99439848	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
16	ZBTB7A	chr8:99438719-99439452	ECC-1	luminal epithelium:	n/a	chr8:99439077-99439088
17	REST	chr8:99438234-99439407	U87	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
18	REST	chr8:99438760-99439757	H1-hESC	embryonic stem cell:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
19	REST	chr8:99439022-99439274	SK-N-SH	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177
20	REST	chr8:99438819-99439653	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
21	SIN3A	chr8:99438897-99439596	H1-hESC	embryonic stem cell:	n/a	chr8:99439228-99439239 chr8:99438928-99438941 chr8:99439167-99439175
22	REST	chr8:99438943-99439350	A549	lung:	n/a	chr8:99439169-99439187 chr8:99439168-99439177
23	REST	chr8:99438234-99439409	U87	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
24	REST	chr8:99439048-99439247	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439168-99439177
25	MAX	chr8:99438861-99439779	ECC-1	luminal epithelium:	n/a	chr8:99438977-99438987 chr8:99439616-99439625
26	YY1	chr8:99439072-99439244	K562	blood:	n/a	chr8:99439120-99439129 chr8:99439150-99439161 chr8:99439149-99439158 chr8:99439120-99439134 chr8:99439118-99439129
27	MAZ	chr8:99439033-99439334	K562	blood:	n/a	n/a
28	ZNF143	chr8:99439002-99439334	GM12878	blood:	n/a	chr8:99439146-99439156
29	SIN3AK20	chr8:99439078-99439273	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZNF143	chr8:99439062-99439262	K562	blood:	n/a	chr8:99439146-99439156
31	TEAD4	chr8:99438963-99439327	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3AK20	chr8:99438984-99439332	K562	blood:	n/a	n/a
33	BHLHE40	chr8:99439044-99439255	K562	blood:	n/a	chr8:99439120-99439136 chr8:99439119-99439135
34	SUZ12	chr8:99438208-99440498	NT2-D1	testis:	n/a	n/a
35	REST	chr8:99438801-99439678	GM12878	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
36	MAX	chr8:99438958-99439656	H1-hESC	embryonic stem cell:	n/a	chr8:99438977-99438987 chr8:99439616-99439625
37	CCNT2	chr8:99439046-99439246	K562	blood:	n/a	n/a
38	RAD21	chr8:99438918-99439356	H1-hESC	embryonic stem cell:	n/a	chr8:99438974-99438984 chr8:99438985-99438995
39	JUND	chr8:99439040-99439326	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr8:99438956-99439494	GM12878	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177
41	REST	chr8:99438720-99439721	H1-hESC	embryonic stem cell:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
42	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
43	POLR2A	chr8:99438967-99439328	HUVEC	blood vessel:	n/a	n/a
44	REST	chr8:99438689-99439745	HL-60	blood:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
45	MAZ	chr8:99438751-99439651	IMR90	lung:	n/a	chr8:99438977-99438987 chr8:99439616-99439625
46	RAD21	chr8:99438943-99439367	IMR90	lung:	n/a	chr8:99438974-99438984 chr8:99438985-99438995
47	REST	chr8:99438669-99439642	GM12878	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
48	REST	chr8:99438557-99439736	A549	lung:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
49	RCOR1	chr8:99438750-99439543	IMR90	lung:	n/a	n/a
50	HDAC2	chr8:99438850-99439454	MCF-7	breast:	n/a	n/a

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:86 , 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	chr8:99438400-99439200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:99438400-99439200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:99438400-99440400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:99438400-99440400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr8:99438400-99440600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr8:99438400-99440600	Bivalent Enhancer	Lung	lung
13	chr8:99438600-99439200	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:99438600-99439200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:99438600-99439400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
16	chr8:99438600-99439600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:99438600-99439600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:99438600-99439800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:99438600-99439800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr8:99438600-99440000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:99438600-99440000	Active TSS	NHDF-Ad	bronchial
22	chr8:99438600-99440200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:99438600-99440200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:99438600-99440200	Bivalent/Poised TSS	A549	lung
25	chr8:99438600-99440200	Bivalent/Poised TSS	Osteobl	bone
26	chr8:99438600-99440400	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr8:99438600-99440600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:99438600-99440800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:99438800-99439200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr8:99438800-99439200	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr8:99438800-99439200	Flanking Active TSS	Right Atrium	heart
32	chr8:99438800-99439200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr8:99438800-99439200	Bivalent/Poised TSS	HepG2	liver
34	chr8:99438800-99439200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr8:99438800-99439200	Flanking Bivalent TSS/Enh	NH-A	brain
36	chr8:99438800-99439400	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr8:99438800-99439400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr8:99438800-99439400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr8:99438800-99439400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
40	chr8:99438800-99439400	Bivalent/Poised TSS	HUVEC	blood vessel
41	chr8:99438800-99439600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:99438800-99439600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:99438800-99439600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:99438800-99439600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
45	chr8:99438800-99439600	Bivalent/Poised TSS	HSMMtube	muscle
46	chr8:99438800-99439800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:99438800-99439800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:99438800-99439800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:99438800-99439800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:99438800-99439800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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