Variant report

Variant	rs4640275
Chromosome Location	chr18:44480730-44480731
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44480442..44483446-chr18:44494668..44497985,3	K562	blood:

Variant related genes	Relation type
ENSG00000078043	Chromatin interaction
ENSG00000167216	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11872472	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11874267	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11874423	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11874582	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11874634	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11875703	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11876274	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11877331	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11877373	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11877650	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11877668	0.81[EUR][1000 genomes]
rs11877721	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11877929	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17472	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1962181	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35539161	0.82[EUR][1000 genomes]
rs4084161	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4341835	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4341836	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55664322	0.82[EUR][1000 genomes]
rs55693830	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55710513	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55756567	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55779584	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55781503	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55819334	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55938990	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56064494	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56095591	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56123148	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56164202	0.86[EUR][1000 genomes]
rs56188847	0.92[EUR][1000 genomes]
rs56217029	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56250012	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56279708	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56298133	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56303451	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56345132	0.85[AFR][1000 genomes]
rs56352844	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56414010	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61738602	0.82[EUR][1000 genomes]
rs61746775	0.82[EUR][1000 genomes]
rs6507707	0.81[EUR][1000 genomes]
rs7230266	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7234512	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7236403	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7238877	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7240843	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7240909	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7241858	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7241877	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7242313	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7242451	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7242768	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7243015	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7243309	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72905224	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72905246	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72905276	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72907105	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72907112	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72907128	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72907132	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72907142	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72907143	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72907164	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72907177	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72907199	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72909109	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72909190	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72909191	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72911104	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72911106	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913060	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913070	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913076	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913080	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913091	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913096	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913098	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72915060	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72915074	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72915093	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72915096	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72917159	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72917161	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72917165	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72917176	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72919280	0.81[EUR][1000 genomes]
rs72919285	0.82[EUR][1000 genomes]
rs72919292	0.82[EUR][1000 genomes]
rs7506367	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8088346	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8089367	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8092148	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8094449	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8099378	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44469000-44489200	Weak transcription	Fetal Stomach	stomach
2	chr18:44469800-44481800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr18:44469800-44493600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr18:44469800-44493800	Weak transcription	Lung	lung
5	chr18:44469800-44494600	Weak transcription	Fetal Brain Male	brain
6	chr18:44469800-44495200	Weak transcription	Hela-S3	cervix
7	chr18:44469800-44495400	Weak transcription	Brain Anterior Caudate	brain
8	chr18:44469800-44496000	Weak transcription	HSMMtube	muscle
9	chr18:44469800-44496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr18:44470200-44482800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:44470200-44484000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:44470400-44486200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr18:44470600-44493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr18:44470600-44495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:44470800-44482200	Weak transcription	Aorta	Aorta
16	chr18:44470800-44482800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr18:44470800-44483400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr18:44470800-44483400	Weak transcription	Fetal Brain Female	brain
19	chr18:44470800-44484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:44470800-44486800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:44470800-44493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr18:44470800-44495200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr18:44470800-44495600	Weak transcription	Thymus	Thymus
24	chr18:44470800-44495800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:44470800-44495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:44470800-44495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:44471000-44483200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:44471000-44484400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:44471000-44484600	Weak transcription	Ovary	ovary
30	chr18:44471000-44485400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr18:44471000-44487000	Weak transcription	Dnd41	blood
32	chr18:44471000-44488200	Weak transcription	HMEC	breast
33	chr18:44471000-44489000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:44471000-44495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:44471000-44495400	Weak transcription	Fetal Thymus	thymus
36	chr18:44471000-44495600	Weak transcription	HUVEC	blood vessel
37	chr18:44471000-44495800	Weak transcription	HSMM	muscle
38	chr18:44471200-44493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:44471200-44495400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:44471200-44495400	Weak transcription	Primary B cells from cord blood	blood
41	chr18:44472200-44480800	Weak transcription	Right Atrium	heart
42	chr18:44472200-44493800	Weak transcription	Left Ventricle	heart
43	chr18:44473600-44486200	Weak transcription	Fetal Lung	lung
44	chr18:44473800-44493400	Weak transcription	Fetal Heart	heart
45	chr18:44474400-44483000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr18:44474400-44490800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr18:44474400-44493000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:44474400-44493600	Weak transcription	HepG2	liver
49	chr18:44474600-44481800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr18:44474600-44481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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