Variant report

Variant	rs218272
Chromosome Location	chr4:55413097-55413098
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55412573..55415275-chr4:55417542..55419416,2	K562	blood:
2	chr4:55412343..55414208-chr4:55542565..55544089,2	K562	blood:
3	chr4:55412214..55414847-chr4:55443164..55445591,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10009832	1.00[EUR][1000 genomes]
rs10032723	1.00[EUR][1000 genomes]
rs1036969	1.00[EUR][1000 genomes]
rs10746546	1.00[EUR][1000 genomes]
rs1156182	1.00[EUR][1000 genomes]
rs11934042	1.00[AMR][1000 genomes]
rs11936787	1.00[AMR][1000 genomes]
rs11940626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12508708	1.00[EUR][1000 genomes]
rs1354959	1.00[EUR][1000 genomes]
rs1507960	1.00[EUR][1000 genomes]
rs1507967	1.00[EUR][1000 genomes]
rs1507969	1.00[EUR][1000 genomes]
rs1507975	1.00[EUR][1000 genomes]
rs1562057	1.00[EUR][1000 genomes]
rs17084689	1.00[EUR][1000 genomes]
rs17084692	1.00[EUR][1000 genomes]
rs17084700	1.00[EUR][1000 genomes]
rs17084709	1.00[EUR][1000 genomes]
rs17084730	1.00[EUR][1000 genomes]
rs17084732	1.00[EUR][1000 genomes]
rs1867403	1.00[EUR][1000 genomes]
rs1976222	1.00[EUR][1000 genomes]
rs1978281	1.00[EUR][1000 genomes]
rs2135969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412580	1.00[EUR][1000 genomes]
rs2412605	1.00[EUR][1000 genomes]
rs2537868	1.00[EUR][1000 genomes]
rs2537869	1.00[EUR][1000 genomes]
rs2537870	1.00[EUR][1000 genomes]
rs2537871	1.00[EUR][1000 genomes]
rs2537877	1.00[EUR][1000 genomes]
rs2703466	1.00[EUR][1000 genomes]
rs2703470	1.00[EUR][1000 genomes]
rs2703471	1.00[EUR][1000 genomes]
rs2703482	1.00[EUR][1000 genomes]
rs2703483	1.00[EUR][1000 genomes]
rs2703490	1.00[EUR][1000 genomes]
rs2855769	1.00[EUR][1000 genomes]
rs2855775	1.00[EUR][1000 genomes]
rs2855776	1.00[EUR][1000 genomes]
rs2855779	1.00[EUR][1000 genomes]
rs2899006	1.00[EUR][1000 genomes]
rs2899007	1.00[EUR][1000 genomes]
rs2969156	1.00[EUR][1000 genomes]
rs2969157	1.00[EUR][1000 genomes]
rs2969160	1.00[EUR][1000 genomes]
rs2969161	1.00[EUR][1000 genomes]
rs3020819	1.00[EUR][1000 genomes]
rs3020824	1.00[EUR][1000 genomes]
rs3020828	1.00[EUR][1000 genomes]
rs3111792	1.00[EUR][1000 genomes]
rs3111799	1.00[EUR][1000 genomes]
rs3111808	1.00[EUR][1000 genomes]
rs3111809	1.00[EUR][1000 genomes]
rs3134886	1.00[EUR][1000 genomes]
rs3134888	1.00[EUR][1000 genomes]
rs35111648	1.00[AMR][1000 genomes]
rs4864885	1.00[EUR][1000 genomes]
rs4864886	1.00[EUR][1000 genomes]
rs4864888	1.00[EUR][1000 genomes]
rs56288823	1.00[EUR][1000 genomes]
rs56744789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58974096	1.00[AMR][1000 genomes]
rs59971610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812224	1.00[EUR][1000 genomes]
rs6841931	1.00[EUR][1000 genomes]
rs6851205	1.00[EUR][1000 genomes]
rs6855353	1.00[EUR][1000 genomes]
rs73148424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73150417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157485	1.00[AMR][1000 genomes]
rs73157627	1.00[AMR][1000 genomes]
rs73159412	1.00[AMR][1000 genomes]
rs73159433	1.00[AMR][1000 genomes]
rs73159438	1.00[AMR][1000 genomes]
rs7356494	1.00[EUR][1000 genomes]
rs925139	1.00[EUR][1000 genomes]
rs931914	1.00[EUR][1000 genomes]
rs9999573	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55406200-55413800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:55406200-55416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:55406200-55434200	Weak transcription	Right Atrium	heart
4	chr4:55406400-55413600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:55406400-55413600	Weak transcription	Fetal Stomach	stomach
6	chr4:55406400-55420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:55408000-55413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:55408000-55413800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:55408200-55413600	Weak transcription	Placenta	Placenta
10	chr4:55408800-55413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:55409000-55413200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:55409000-55413400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:55409000-55413400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:55409000-55413600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:55409000-55413600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:55409000-55413600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:55409000-55413800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:55409000-55420600	Weak transcription	Ovary	ovary
19	chr4:55409200-55413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:55409200-55413800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:55409400-55413600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:55409600-55413600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:55409600-55413600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:55409800-55419000	Weak transcription	NHLF	lung
25	chr4:55410200-55413400	Weak transcription	K562	blood
26	chr4:55410200-55413600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:55410600-55413600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:55410800-55415400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:55411200-55413200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:55411200-55414800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:55411400-55414400	Enhancers	HMEC	breast
32	chr4:55411400-55414600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:55411600-55413600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:55411600-55414600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:55411600-55415200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:55411800-55414400	Enhancers	NHDF-Ad	bronchial
37	chr4:55411800-55417600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:55412200-55413400	Enhancers	Stomach Mucosa	stomach
39	chr4:55412200-55414000	Enhancers	Esophagus	oesophagus
40	chr4:55412400-55413400	Enhancers	Lung	lung
41	chr4:55412400-55413400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr4:55412400-55414000	Enhancers	Gastric	stomach
43	chr4:55412600-55413600	Enhancers	NHEK	skin
44	chr4:55413000-55413400	Enhancers	Duodenum Mucosa	Duodenum
45	chr4:55413000-55413600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:55413000-55413800	Enhancers	Small Intestine	intestine
47	chr4:55413000-55414400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr4:55413000-55414800	Enhancers	Fetal Intestine Large	intestine
49	chr4:55413000-55415600	Enhancers	Spleen	Spleen

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