Variant report

Variant	rs62117204
Chromosome Location	chr19:45242967-45242968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45236994..45239272-chr19:45241247..45244743,3	K562	blood:
2	chr19:45240956..45243677-chr19:45255816..45257641,2	K562	blood:
3	chr19:45240786..45243708-chr19:45250602..45253162,2	K562	blood:
4	chr19:45238713..45247485-chr19:45247961..45259019,19	K562	blood:

Variant related genes	Relation type
ENSG00000069399	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1531517	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1551891	0.91[ASN][1000 genomes]
rs4803750	0.92[EUR][1000 genomes]
rs62117162	0.95[ASN][1000 genomes]
rs62117205	0.90[EUR][1000 genomes]
rs62117206	0.90[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	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45235400-45250400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:45238600-45244600	Weak transcription	Small Intestine	intestine
3	chr19:45238800-45244600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:45239400-45243000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:45239800-45243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:45239800-45245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:45239800-45246800	Enhancers	Primary hematopoietic stem cells	blood
8	chr19:45240200-45243000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:45240200-45243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:45240400-45245400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:45240600-45243600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr19:45240600-45243800	Enhancers	Lung	lung
13	chr19:45240800-45243800	Enhancers	Spleen	Spleen
14	chr19:45240800-45247600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:45241200-45243000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr19:45241200-45243000	Enhancers	Stomach Mucosa	stomach
17	chr19:45241200-45243600	Weak transcription	Right Atrium	heart
18	chr19:45241200-45244800	Weak transcription	HSMM	muscle
19	chr19:45241200-45245200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:45241200-45245200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:45241400-45243000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:45241400-45244600	Weak transcription	NH-A	brain
23	chr19:45241400-45245400	Weak transcription	Brain Anterior Caudate	brain
24	chr19:45241400-45245800	Weak transcription	Ovary	ovary
25	chr19:45241600-45243000	Enhancers	Fetal Intestine Large	intestine
26	chr19:45241600-45245400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr19:45241800-45243000	Enhancers	Fetal Intestine Small	intestine
28	chr19:45241800-45245200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr19:45242000-45243000	Enhancers	Colonic Mucosa	Colon
30	chr19:45242000-45243000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr19:45242000-45243800	Enhancers	Gastric	stomach
32	chr19:45242000-45246000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:45242000-45248200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr19:45242200-45243000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr19:45242200-45244000	Enhancers	GM12878-XiMat	blood
36	chr19:45242400-45243000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:45242400-45243600	Weak transcription	Fetal Muscle Leg	muscle
38	chr19:45242400-45244600	Weak transcription	NHLF	lung
39	chr19:45242400-45244800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:45242400-45245200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:45242400-45246000	Weak transcription	Right Ventricle	heart
42	chr19:45242600-45243600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:45242600-45243600	Weak transcription	Primary B cells from cord blood	blood
44	chr19:45242600-45243600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:45242600-45243600	Weak transcription	Adipose Nuclei	Adipose
46	chr19:45242600-45243600	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:45242600-45243600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:45242600-45243600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:45242600-45243600	Weak transcription	Fetal Thymus	thymus
50	chr19:45242600-45243600	Weak transcription	Pancreas	Pancrea

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