Variant report

Variant	rs62085927
Chromosome Location	chr18:9232562-9232563
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	chr18:9232336..9233961-chr18:9235891..9237458,2	K562	blood:
2	chr18:9215514..9219729-chr18:9232451..9235496,3	K562	blood:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1034486	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1046491	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10468795	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11081463	0.81[AMR][1000 genomes]
rs11081469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11660889	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11661901	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11661921	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11663175	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11663949	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11872176	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11872481	0.81[AMR][1000 genomes]
rs11875086	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11876775	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11876821	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11877843	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12454497	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12455304	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12457266	0.81[AMR][1000 genomes]
rs12457429	0.81[AMR][1000 genomes]
rs12956160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2186914	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs34322928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35774167	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35849084	0.81[AMR][1000 genomes]
rs62085924	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62085926	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6506647	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71362073	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7226632	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7229685	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8085549	0.86[EUR][1000 genomes]
rs8085669	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8086362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8089577	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
2	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
3	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
5	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
6	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:9192200-9233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:9192200-9284000	Weak transcription	NHEK	skin
10	chr18:9201200-9232800	Weak transcription	Gastric	stomach
11	chr18:9202200-9234000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:9211800-9254800	Weak transcription	NH-A	brain
13	chr18:9212200-9254200	Weak transcription	Hela-S3	cervix
14	chr18:9215800-9233800	Weak transcription	Aorta	Aorta
15	chr18:9216000-9250000	Weak transcription	Small Intestine	intestine
16	chr18:9216000-9289600	Weak transcription	HMEC	breast
17	chr18:9216400-9232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:9217000-9233800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr18:9222400-9233600	Weak transcription	Brain Angular Gyrus	brain
20	chr18:9222600-9234000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:9223000-9241400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr18:9224400-9240600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:9226400-9232800	Weak transcription	Lung	lung
24	chr18:9226600-9233800	Weak transcription	Left Ventricle	heart
25	chr18:9226800-9233800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr18:9226800-9238000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr18:9227800-9234400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:9228000-9234200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr18:9228200-9233800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:9228200-9258000	Weak transcription	Fetal Heart	heart
31	chr18:9228400-9233800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:9228400-9233800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr18:9229400-9233400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr18:9229800-9233800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:9230600-9233200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr18:9230600-9233200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
37	chr18:9230600-9234000	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr18:9230600-9241800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:9231000-9232800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:9231000-9233000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr18:9231000-9233000	ZNF genes & repeats	Fetal Lung	lung
42	chr18:9231000-9233200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr18:9231000-9233400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:9231000-9233400	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr18:9231000-9233600	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr18:9231000-9233800	ZNF genes & repeats	GM12878-XiMat	blood
47	chr18:9231000-9234600	Strong transcription	HSMM	muscle
48	chr18:9231000-9234600	Strong transcription	Osteobl	bone
49	chr18:9231000-9235400	Strong transcription	Placenta	Placenta
50	chr18:9231200-9232800	ZNF genes & repeats	Primary T cells from cord blood	blood

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