Variant report

Variant	rs2969161
Chromosome Location	chr4:55574943-55574944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55567098..55569303-chr4:55573075..55575854,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10009832	1.00[EUR][1000 genomes]
rs11940626	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]
rs1978281	1.00[EUR][1000 genomes]
rs218272	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]
rs2969156	1.00[EUR][1000 genomes]
rs2969157	1.00[EUR][1000 genomes]
rs2969160	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]
rs56288823	1.00[EUR][1000 genomes]
rs61002343	1.00[EUR][1000 genomes]
rs73141818	1.00[EUR][1000 genomes]
rs73150417	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1003338	chr4:55566703-55582342	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1012346	chr4:55571312-55584101	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv275029	chr4:55571761-55582463	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1010844	chr4:55573693-55587972	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
3	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:55562000-55577200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:55565000-55576000	Weak transcription	Ovary	ovary
7	chr4:55565600-55575000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:55567600-55575400	Weak transcription	Brain Germinal Matrix	brain
11	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:55570400-55578600	Weak transcription	Fetal Brain Male	brain
13	chr4:55571000-55580000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:55571200-55575200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:55572200-55576000	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:55573200-55575400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:55573200-55576200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:55573200-55576600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:55573400-55575000	Strong transcription	NHDF-Ad	bronchial
20	chr4:55573400-55576400	Genic enhancers	Primary hematopoietic stem cells	blood
21	chr4:55573400-55576600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:55573600-55575400	Weak transcription	HUVEC	blood vessel
23	chr4:55573600-55575400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:55573600-55576400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:55573600-55577400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:55573600-55577400	Enhancers	Fetal Thymus	thymus
27	chr4:55573600-55583200	Weak transcription	Brain Substantia Nigra	brain
28	chr4:55573800-55575200	Weak transcription	Thymus	Thymus
29	chr4:55573800-55577600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:55574200-55576000	Enhancers	Gastric	stomach
31	chr4:55574200-55576200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:55574200-55576400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:55574200-55579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:55574400-55575200	Enhancers	Lung	lung
35	chr4:55574400-55578200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:55574600-55575200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr4:55574600-55575200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr4:55574600-55575200	ZNF genes & repeats	Fetal Stomach	stomach
39	chr4:55574600-55575200	Enhancers	Pancreas	Pancrea
40	chr4:55574600-55575400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:55574600-55575600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:55574600-55576600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr4:55574800-55575200	Enhancers	Spleen	Spleen
44	chr4:55574800-55576000	Weak transcription	Right Atrium	heart

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