Variant report

Variant	rs192203250
Chromosome Location	chr8:99438797-99438798
allele	C/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	chr8:99438735-99439646	K562	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
2	REST	chr8:99438749-99439715	SK-N-SH	brain:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
3	REST	chr8:99438285-99439821	MCF-7	breast:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
4	REST	chr8:99438323-99439467	ECC-1	luminal epithelium:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
5	REST	chr8:99438719-99439848	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
6	ZBTB7A	chr8:99438719-99439452	ECC-1	luminal epithelium:	n/a	chr8:99439077-99439088
7	REST	chr8:99438234-99439407	U87	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
8	REST	chr8:99438760-99439757	H1-hESC	embryonic stem cell:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
9	REST	chr8:99438234-99439409	U87	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
10	SUZ12	chr8:99438208-99440498	NT2-D1	testis:	n/a	n/a
11	REST	chr8:99438720-99439721	H1-hESC	embryonic stem cell:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
12	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
13	REST	chr8:99438689-99439745	HL-60	blood:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
14	MAZ	chr8:99438751-99439651	IMR90	lung:	n/a	chr8:99438977-99438987 chr8:99439616-99439625
15	REST	chr8:99438669-99439642	GM12878	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
16	REST	chr8:99438557-99439736	A549	lung:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
17	RCOR1	chr8:99438750-99439543	IMR90	lung:	n/a	n/a
18	REST	chr8:99438529-99439795	ECC-1	luminal epithelium:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
19	TEAD4	chr8:99438703-99439469	A549	lung:	n/a	n/a
20	REST	chr8:99438628-99439601	MCF-7	breast:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
21	REST	chr8:99438721-99439638	H1-neurons	neurons:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
22	REST	chr8:99438704-99439412	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
23	REST	chr8:99438717-99439504	HepG2	liver:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
24	REST	chr8:99438067-99439733	PFSK-1	brain:	n/a	chr8:99439169-99439187 chr8:99439695-99439708 chr8:99439168-99439177 chr8:99438935-99438945
25	REST	chr8:99438714-99439658	PFSK-1	brain:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
26	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
27	REST	chr8:99438746-99438914	HepG2	liver:	n/a	n/a
28	REST	chr8:99438713-99439620	PANC-1	pancreas:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
29	REST	chr8:99438625-99439616	K562	blood:	n/a	chr8:99439169-99439187 chr8:99439168-99439177 chr8:99438935-99438945
30	ZBTB7A	chr8:99438732-99439436	ECC-1	luminal epithelium:	n/a	chr8:99439077-99439088
31	EGR1	chr8:99438579-99438850	K562	blood:	n/a	chr8:99438712-99438725 chr8:99438713-99438722 chr8:99438712-99438722 chr8:99438712-99438725 chr8:99438712-99438725 chr8:99438711-99438725 chr8:99438712-99438725

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:63 , 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	chr8:99438200-99438800	Bivalent Enhancer	Fetal Stomach	stomach
7	chr8:99438200-99440200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:99438400-99438800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr8:99438400-99438800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr8:99438400-99438800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:99438400-99438800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:99438400-99438800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:99438400-99438800	Bivalent Enhancer	Colon Smooth Muscle	Colon
14	chr8:99438400-99438800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr8:99438400-99438800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr8:99438400-99438800	Flanking Active TSS	Ovary	ovary
17	chr8:99438400-99438800	Bivalent/Poised TSS	Right Ventricle	heart
18	chr8:99438400-99438800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr8:99438400-99439000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
20	chr8:99438400-99439000	Bivalent Enhancer	Placenta	Placenta
21	chr8:99438400-99439000	Enhancers	Gastric	stomach
22	chr8:99438400-99439000	Flanking Active TSS	Pancreas	Pancrea
23	chr8:99438400-99439000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
24	chr8:99438400-99439200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:99438400-99439200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:99438400-99440400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:99438400-99440400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr8:99438400-99440600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr8:99438400-99440600	Bivalent Enhancer	Lung	lung
30	chr8:99438600-99438800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:99438600-99438800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:99438600-99438800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr8:99438600-99438800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:99438600-99438800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:99438600-99438800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:99438600-99438800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr8:99438600-99438800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr8:99438600-99438800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
39	chr8:99438600-99438800	Flanking Active TSS	Fetal Heart	heart
40	chr8:99438600-99438800	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr8:99438600-99438800	Active TSS	Right Atrium	heart
42	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:99438600-99439000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr8:99438600-99439000	Bivalent Enhancer	Fetal Lung	lung
48	chr8:99438600-99439200	Enhancers	Primary hematopoietic stem cells	blood
49	chr8:99438600-99439200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:99438600-99439400	Bivalent/Poised TSS	Adipose Nuclei	Adipose

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