Variant report

Variant	rs11802285
Chromosome Location	chr1:223995695-223995696
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	MAFK	chr1:223995393-223995720	HepG2	liver:	n/a	n/a
2	MAFF	chr1:223995442-223995697	HepG2	liver:	n/a	chr1:223995547-223995565

No.	Distal block	Cell Line	Cell type
1	chr1:223993512..223997338-chr1:224001436..224003914,3	K562	blood:
2	chr1:223993659..223996242-chr1:224032802..224035443,2	K562	blood:
3	chr1:223995561..223997893-chr1:224022146..224025073,2	K562	blood:

Variant related genes	Relation type
TP53BP2	TF binding region
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10915892	0.87[YRI][hapmap]
rs1124943	0.87[YRI][hapmap]
rs28370186	1.00[AMR][1000 genomes]
rs7518720	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:223960200-223998600	Strong transcription	Fetal Thymus	thymus
4	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:223973200-223996000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:223976800-224003000	Weak transcription	Fetal Heart	heart
10	chr1:223978800-223997200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:223979000-224000800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:223979200-223995800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:223979200-224002200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:223979400-224002600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:223979600-224002400	Strong transcription	Dnd41	blood
16	chr1:223979800-223996000	Strong transcription	Primary T cells from cord blood	blood
17	chr1:223979800-223997000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:223981200-223995800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:223981800-224002600	Weak transcription	Stomach Mucosa	stomach
20	chr1:223982400-223997800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:223982600-223997600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:223982800-223995800	Strong transcription	Fetal Intestine Large	intestine
23	chr1:223982800-224002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:223983000-223995800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:223983000-223997800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:223983400-223998000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr1:223984200-223999400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:223984200-224003000	Strong transcription	K562	blood
29	chr1:223985200-223996000	Strong transcription	Fetal Lung	lung
30	chr1:223985400-223998000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:223985400-224004000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:223985600-223995800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:223987000-223995800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr1:223988200-224000800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:223988200-224012000	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:223988600-224000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:223990600-224007000	Weak transcription	Fetal Brain Male	brain
38	chr1:223991000-224004400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:223991200-223997000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:223991200-223999800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:223991200-223999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:223991200-223999800	Weak transcription	Brain Germinal Matrix	brain
43	chr1:223991200-223999800	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:223991200-223999800	Weak transcription	Esophagus	oesophagus
45	chr1:223991200-223999800	Weak transcription	NHEK	skin
46	chr1:223991200-224000000	Weak transcription	Gastric	stomach
47	chr1:223991200-224000600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:223991200-224000600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:223991200-224000800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:223991200-224000800	Weak transcription	Fetal Kidney	kidney

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