Variant report

Variant	rs72699056
Chromosome Location	chr1:113071506-113071507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113070857..113072562-chr1:113074305..113076208,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72699055	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72699075	0.87[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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113052000-113082600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:113052200-113093200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:113055800-113085200	Weak transcription	Thymus	Thymus
4	chr1:113058400-113086600	Weak transcription	A549	lung
5	chr1:113058800-113119400	Weak transcription	HepG2	liver
6	chr1:113059200-113071600	Weak transcription	Hela-S3	cervix
7	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
8	chr1:113061200-113072200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:113061400-113081200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
11	chr1:113063400-113092400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:113065000-113092400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:113065200-113114800	Weak transcription	Small Intestine	intestine
15	chr1:113065400-113114600	Weak transcription	Fetal Brain Male	brain
16	chr1:113065800-113086200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:113066000-113088800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:113066000-113114600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:113066200-113114400	Weak transcription	Dnd41	blood
21	chr1:113066600-113081200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:113066800-113071800	Strong transcription	Liver	Liver
23	chr1:113066800-113072800	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:113067000-113083800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:113067000-113117400	Weak transcription	Fetal Thymus	thymus
26	chr1:113067600-113072000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:113067600-113072000	Strong transcription	Primary T cells from cord blood	blood
28	chr1:113067800-113079200	Weak transcription	Ovary	ovary
29	chr1:113067800-113083800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:113067800-113090200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:113068000-113089600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:113068000-113100200	Weak transcription	Fetal Heart	heart
33	chr1:113068200-113081400	Weak transcription	Fetal Lung	lung
34	chr1:113068400-113074200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:113068600-113086400	Weak transcription	HUVEC	blood vessel
36	chr1:113068800-113081400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:113068800-113087000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:113069000-113076600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:113069000-113081600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:113069000-113082800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:113069400-113072600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:113069400-113072600	Enhancers	NHDF-Ad	bronchial
43	chr1:113069400-113072600	Enhancers	NHLF	lung
44	chr1:113069400-113073000	Enhancers	Osteobl	bone
45	chr1:113069600-113072000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:113069600-113072000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:113069800-113071600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:113069800-113072200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:113069800-113072600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:113070000-113073200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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