Variant report

Variant	rs2363562
Chromosome Location	chr1:215255511-215255512
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	CTBP2	chr1:215255151-215256317	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:215255248-215255548	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:215254963-215255602	H1-hESC	embryonic stem cell:	n/a	chr1:215255128-215255139

Variant related genes	Relation type
KCNK2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10779638	0.94[AFR][1000 genomes]
rs11120520	1.00[EUR][1000 genomes]
rs11120521	1.00[EUR][1000 genomes]
rs11120523	1.00[EUR][1000 genomes]
rs12070211	1.00[EUR][1000 genomes]
rs12076683	1.00[EUR][1000 genomes]
rs12239472	1.00[EUR][1000 genomes]
rs12239509	1.00[EUR][1000 genomes]
rs1416650	1.00[EUR][1000 genomes]
rs1556904	1.00[EUR][1000 genomes]
rs17024391	1.00[EUR][1000 genomes]
rs2363552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4581247	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4589083	0.87[AFR][1000 genomes]
rs4593794	1.00[EUR][1000 genomes]
rs4633260	1.00[EUR][1000 genomes]
rs5019190	1.00[EUR][1000 genomes]
rs61272547	1.00[EUR][1000 genomes]
rs73088281	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088299	1.00[EUR][1000 genomes]
rs7528816	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7535436	0.94[AFR][1000 genomes]
rs7550501	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551562	0.94[AFR][1000 genomes]
rs950987	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic 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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215254800-215257400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:215254800-215257400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:215254800-215259000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215254800-215260000	Active TSS	Fetal Brain Female	brain
5	chr1:215255000-215255600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:215255000-215255600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:215255000-215255600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:215255000-215255600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr1:215255000-215255600	Flanking Active TSS	Osteobl	bone
10	chr1:215255000-215255800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr1:215255000-215256000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:215255000-215256000	Enhancers	Pancreas	Pancrea
13	chr1:215255000-215256200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr1:215255000-215256800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
15	chr1:215255000-215257000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr1:215255000-215257200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr1:215255000-215257200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:215255000-215257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:215255000-215257400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:215255000-215258400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:215255200-215255600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:215255200-215255600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:215255200-215255600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:215255200-215255600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:215255200-215255600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:215255200-215255600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr1:215255200-215255600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:215255200-215255800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr1:215255200-215255800	Bivalent Enhancer	Fetal Lung	lung
30	chr1:215255200-215255800	Flanking Active TSS	NHLF	lung
31	chr1:215255200-215256000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr1:215255200-215256000	Bivalent Enhancer	Fetal Heart	heart
33	chr1:215255200-215256000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr1:215255200-215256000	Flanking Active TSS	NH-A	brain
35	chr1:215255200-215256200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr1:215255200-215256800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:215255200-215256800	Active TSS	Brain Anterior Caudate	brain
38	chr1:215255200-215257000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:215255200-215257000	Enhancers	Spleen	Spleen
40	chr1:215255200-215257200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:215255200-215257200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:215255200-215258600	Active TSS	Fetal Brain Male	brain
43	chr1:215255200-215259000	Active TSS	NHDF-Ad	bronchial
44	chr1:215255400-215255600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:215255400-215255600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:215255400-215255600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:215255400-215255600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:215255400-215255600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr1:215255400-215255800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
50	chr1:215255400-215255800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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