Variant report

Variant	rs9962523
Chromosome Location	chr18:44486414-44486415
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44486293..44487895-chr18:44496717..44498620,2	K562	blood:

Variant related genes	Relation type
ENSG00000167216	Chromatin interaction
ENSG00000078043	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10070	0.87[ASN][1000 genomes]
rs10853544	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853547	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11082562	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11659693	0.91[ASN][1000 genomes]
rs11660085	0.81[ASN][1000 genomes]
rs1539878	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1539881	0.95[ASN][1000 genomes]
rs1789152	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1893427	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1970668	0.81[ASN][1000 genomes]
rs2010834	0.81[EUR][1000 genomes]
rs2032215	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2051292	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2156049	0.91[ASN][1000 genomes]
rs2156050	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2187090	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2187092	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2510443	0.82[EUR][1000 genomes]
rs2510444	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571024	0.82[EUR][1000 genomes]
rs2571026	0.81[EUR][1000 genomes]
rs2576051	0.83[EUR][1000 genomes]
rs2956973	0.81[EUR][1000 genomes]
rs2957007	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3744863	0.82[EUR][1000 genomes]
rs3892820	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258717	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4548968	0.88[EUR][1000 genomes]
rs477826	0.87[ASN][1000 genomes]
rs478820	0.87[ASN][1000 genomes]
rs4890341	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890347	0.83[ASN][1000 genomes]
rs4890698	0.90[ASN][1000 genomes]
rs4890699	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4890703	0.87[EUR][1000 genomes]
rs4890707	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs501062	0.91[ASN][1000 genomes]
rs504668	0.91[ASN][1000 genomes]
rs509647	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs513775	0.83[ASN][1000 genomes]
rs538221	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs541634	0.89[ASN][1000 genomes]
rs553456	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs557089	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs557661	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs577200	0.95[EUR][1000 genomes]
rs578146	0.91[ASN][1000 genomes]
rs58993513	0.95[ASN][1000 genomes]
rs590923	0.87[ASN][1000 genomes]
rs593340	0.90[ASN][1000 genomes]
rs605487	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs607780	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs616900	0.91[ASN][1000 genomes]
rs620228	0.84[ASN][1000 genomes]
rs626217	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641366	0.91[ASN][1000 genomes]
rs642897	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs644731	0.90[ASN][1000 genomes]
rs649076	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6507709	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6507714	0.87[EUR][1000 genomes]
rs658756	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs693503	0.87[ASN][1000 genomes]
rs695001	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7227700	0.87[EUR][1000 genomes]
rs7234570	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7240239	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7244013	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7244778	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7245049	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8086286	0.93[ASN][1000 genomes]
rs8089938	0.95[EUR][1000 genomes]
rs8091984	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8094654	0.81[ASN][1000 genomes]
rs8095373	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9304336	0.93[ASN][1000 genomes]
rs9304337	0.93[EUR][1000 genomes]
rs9304338	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304340	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9945443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9947131	0.81[ASN][1000 genomes]
rs9948405	0.87[ASN][1000 genomes]
rs9954336	0.90[ASN][1000 genomes]
rs9959877	0.81[ASN][1000 genomes]
rs998819	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr18:44469000-44489200	Weak transcription	Fetal Stomach	stomach
2	chr18:44469800-44493600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr18:44469800-44493800	Weak transcription	Lung	lung
4	chr18:44469800-44494600	Weak transcription	Fetal Brain Male	brain
5	chr18:44469800-44495200	Weak transcription	Hela-S3	cervix
6	chr18:44469800-44495400	Weak transcription	Brain Anterior Caudate	brain
7	chr18:44469800-44496000	Weak transcription	HSMMtube	muscle
8	chr18:44469800-44496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:44470600-44493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:44470600-44495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr18:44470800-44486800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:44470800-44493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr18:44470800-44495200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr18:44470800-44495600	Weak transcription	Thymus	Thymus
15	chr18:44470800-44495800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:44470800-44495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr18:44470800-44495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:44471000-44487000	Weak transcription	Dnd41	blood
19	chr18:44471000-44488200	Weak transcription	HMEC	breast
20	chr18:44471000-44489000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:44471000-44495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:44471000-44495400	Weak transcription	Fetal Thymus	thymus
23	chr18:44471000-44495600	Weak transcription	HUVEC	blood vessel
24	chr18:44471000-44495800	Weak transcription	HSMM	muscle
25	chr18:44471200-44493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:44471200-44495400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:44471200-44495400	Weak transcription	Primary B cells from cord blood	blood
28	chr18:44472200-44493800	Weak transcription	Left Ventricle	heart
29	chr18:44473800-44493400	Weak transcription	Fetal Heart	heart
30	chr18:44474400-44490800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:44474400-44493000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:44474400-44493600	Weak transcription	HepG2	liver
33	chr18:44474800-44493000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr18:44475600-44494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:44480000-44486800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:44480000-44487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:44480000-44487000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:44480200-44486600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr18:44480200-44490600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr18:44480600-44490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr18:44482000-44487000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr18:44482400-44495200	Weak transcription	Primary T cells from cord blood	blood
43	chr18:44483600-44495400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr18:44484000-44493400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:44484000-44495400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr18:44484000-44495800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr18:44486200-44487400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
48	chr18:44486200-44487600	ZNF genes & repeats	Fetal Lung	lung
49	chr18:44486400-44487800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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