Variant report

Variant	rs72740250
Chromosome Location	chr1:193217718-193217719
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	chr1:193216941..193221237-chr1:193223372..193228455,4	K562	blood:
2	chr1:193133772..193136004-chr1:193215250..193217762,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12531	1.00[AFR][1000 genomes]
rs34353394	1.00[AFR][1000 genomes]
rs35995477	1.00[AFR][1000 genomes]
rs41310923	1.00[AFR][1000 genomes]
rs56055376	1.00[AFR][1000 genomes]
rs56300484	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv947360	chr1:193212675-193222169	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv275037	chr1:193213198-193225083	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
3	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
5	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
6	chr1:193184400-193227600	Weak transcription	HMEC	breast
7	chr1:193185400-193218200	Weak transcription	HepG2	liver
8	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:193209600-193219400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:193210800-193228200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:193210800-193229200	Weak transcription	Gastric	stomach
15	chr1:193211000-193230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:193211400-193233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:193211600-193220000	Weak transcription	Lung	lung
18	chr1:193211600-193233400	Weak transcription	Fetal Stomach	stomach
19	chr1:193211600-193235000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:193213400-193223000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:193214400-193218200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:193215200-193220200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:193215600-193218600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:193215800-193218000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:193215800-193219000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:193215800-193220600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:193216000-193217800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr1:193216000-193218000	ZNF genes & repeats	Fetal Kidney	kidney
29	chr1:193216000-193218200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr1:193216000-193218200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:193216000-193218400	Strong transcription	Left Ventricle	heart
32	chr1:193216000-193218800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:193216000-193219000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:193216000-193219000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:193216000-193219000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr1:193216000-193220000	Strong transcription	Fetal Thymus	thymus
37	chr1:193216000-193220600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:193216000-193221000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:193216000-193222600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr1:193216200-193217800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:193216200-193218000	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr1:193216200-193218400	Strong transcription	Osteobl	bone
43	chr1:193216200-193219200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:193216400-193217800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:193216400-193218000	Strong transcription	Esophagus	oesophagus
46	chr1:193216400-193218000	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr1:193216400-193218200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:193216400-193218400	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr1:193216400-193218600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:193216400-193218600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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