Variant report

Variant	rs56283736
Chromosome Location	chr4:119747268-119747269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119746389..119748535-chr4:119756250..119758555,2	MCF-7	breast:
2	chr4:119746430..119750186-chr4:119793927..119797109,3	K562	blood:
3	chr4:119734323..119737022-chr4:119746808..119748529,2	K562	blood:
4	chr4:119737879..119739505-chr4:119745855..119747438,2	K562	blood:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10001115	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10018977	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019311	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025640	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11098451	0.93[EUR][1000 genomes]
rs17257945	0.88[EUR][1000 genomes]
rs17258106	0.88[EUR][1000 genomes]
rs17258830	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17258907	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17259173	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17259257	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17259284	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324807	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324821	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324884	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324968	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325017	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595532	0.93[EUR][1000 genomes]
rs28600971	0.93[EUR][1000 genomes]
rs28627331	0.88[EUR][1000 genomes]
rs28797314	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28837152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41455648	0.93[EUR][1000 genomes]
rs55633605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55640619	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55668908	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55671478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704595	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55726697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55744948	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758547	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794497	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55869953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55901549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55985953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56027489	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56042726	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56046449	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56046676	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055826	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56104443	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117870	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56124677	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56150431	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56162974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56212415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227053	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56252481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56291421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302493	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302600	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303276	1.00[EUR][1000 genomes]
rs56309519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56322132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56331118	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56342843	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56359736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56388366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389935	0.88[EUR][1000 genomes]
rs56762141	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6818519	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73842253	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:119718400-119756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:119718600-119753600	Weak transcription	Fetal Heart	heart
4	chr4:119719000-119756200	Weak transcription	Fetal Brain Male	brain
5	chr4:119724000-119748200	Weak transcription	Psoas Muscle	Psoas
6	chr4:119732000-119748000	Weak transcription	Right Atrium	heart
7	chr4:119732000-119755800	Weak transcription	Brain Angular Gyrus	brain
8	chr4:119733400-119753200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:119734400-119748200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:119734800-119755800	Weak transcription	Thymus	Thymus
11	chr4:119735400-119748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:119735600-119748200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:119735600-119748200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:119735600-119756000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:119735600-119756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:119735800-119751400	Weak transcription	Fetal Brain Female	brain
17	chr4:119736200-119748000	Weak transcription	K562	blood
18	chr4:119736400-119748200	Weak transcription	A549	lung
19	chr4:119736400-119756200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:119736800-119753000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:119736800-119755800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:119736800-119756200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:119736800-119756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:119736800-119756200	Weak transcription	Brain Substantia Nigra	brain
25	chr4:119737000-119748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:119737000-119755800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:119737000-119756000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:119737200-119752400	Weak transcription	Fetal Kidney	kidney
29	chr4:119737800-119752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:119738000-119748000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:119738600-119748000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:119738600-119748000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:119742600-119748000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:119742800-119747400	Strong transcription	HUVEC	blood vessel
35	chr4:119742800-119747800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:119743200-119747400	Weak transcription	Aorta	Aorta
37	chr4:119743200-119748200	Weak transcription	Esophagus	oesophagus
38	chr4:119744600-119747400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:119744800-119748000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:119744800-119748200	Weak transcription	Gastric	stomach
41	chr4:119744800-119748200	Weak transcription	Left Ventricle	heart
42	chr4:119744800-119753400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:119744800-119753400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:119744800-119755800	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:119745000-119747800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:119745000-119748000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:119745000-119748000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:119745200-119753400	Weak transcription	Spleen	Spleen
49	chr4:119745200-119755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:119745400-119748000	Weak transcription	Adipose Nuclei	Adipose

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