Variant report

Variant	rs56104443
Chromosome Location	chr4:119752052-119752053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119749704..119751469-chr4:119751998..119754099,2	K562	blood:
2	chr4:119749856..119753321-chr4:119754214..119757682,4	MCF-7	breast:
3	chr4:119751011..119752990-chr4:119754858..119757253,2	K562	blood:
4	chr4:119733285..119736755-chr4:119749936..119754070,3	K562	blood:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10001115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10018977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025640	1.00[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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17258907	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17259173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17259257	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17259284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325192	1.00[AFR][1000 genomes];1.00[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28837152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41455648	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55633605	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55640619	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649377	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55668908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55671478	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55726697	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55744948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806110	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55845920	1.00[AFR][1000 genomes]
rs55869953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55901549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913633	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55985953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55990797	1.00[AFR][1000 genomes]
rs56027489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56042726	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56046449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56046676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56117870	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56124677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56144225	1.00[AFR][1000 genomes]
rs56150431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56162974	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56200441	1.00[AFR][1000 genomes]
rs56212415	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56252481	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264833	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56283736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291421	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303276	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56309519	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56322132	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56331118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56342843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56359736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364904	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56388366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389935	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56762141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6818519	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73842253	0.86[AMR][1000 genomes];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	chr4:119718400-119756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:119718600-119753600	Weak transcription	Fetal Heart	heart
3	chr4:119719000-119756200	Weak transcription	Fetal Brain Male	brain
4	chr4:119732000-119755800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:119733400-119753200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:119734800-119755800	Weak transcription	Thymus	Thymus
7	chr4:119735600-119756000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:119735600-119756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:119736400-119756200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:119736800-119753000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:119736800-119755800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:119736800-119756200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:119736800-119756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:119736800-119756200	Weak transcription	Brain Substantia Nigra	brain
15	chr4:119737000-119755800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:119737000-119756000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:119737200-119752400	Weak transcription	Fetal Kidney	kidney
18	chr4:119737800-119752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:119744800-119753400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:119744800-119753400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:119744800-119755800	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:119745200-119753400	Weak transcription	Spleen	Spleen
23	chr4:119745200-119755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:119745400-119754800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:119745800-119752200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:119746000-119752800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:119746000-119753000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:119746000-119753400	Weak transcription	Colonic Mucosa	Colon
29	chr4:119746000-119753600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:119746000-119754800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:119746200-119754800	Weak transcription	Small Intestine	intestine
32	chr4:119746400-119752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:119746600-119752600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:119746600-119753400	Weak transcription	Primary B cells from cord blood	blood
35	chr4:119748000-119754600	Genic enhancers	HepG2	liver
36	chr4:119748200-119754800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr4:119748200-119755000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:119748200-119755400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:119748400-119753200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:119748400-119753400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:119748400-119755800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:119748600-119752200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:119748600-119752800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:119748600-119753000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:119748600-119754200	Weak transcription	Right Atrium	heart
46	chr4:119748600-119754600	Strong transcription	HSMM	muscle
47	chr4:119748600-119756200	Weak transcription	Psoas Muscle	Psoas
48	chr4:119748800-119752200	Weak transcription	Adipose Nuclei	Adipose
49	chr4:119749000-119752200	Weak transcription	Left Ventricle	heart
50	chr4:119749000-119752400	Weak transcription	Colon Smooth Muscle	Colon

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