Variant report

Variant	rs2018732
Chromosome Location	chr4:74735734-74735735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1511814	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1814092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1835263	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs187093	0.85[AMR][1000 genomes]
rs2668075	0.85[AMR][1000 genomes]
rs2668077	0.85[AMR][1000 genomes]
rs3097408	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097410	0.88[AFR][1000 genomes]
rs352030	0.85[AMR][1000 genomes]
rs353030	0.85[AMR][1000 genomes]
rs353035	0.85[AMR][1000 genomes]
rs353037	0.85[AMR][1000 genomes]
rs375890	0.85[AMR][1000 genomes]
rs471520	0.85[AMR][1000 genomes]
rs480175	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs506627	0.85[AMR][1000 genomes]
rs509958	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548869	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554409	0.85[AMR][1000 genomes]
rs565886	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs587895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591026	0.86[AFR][1000 genomes]
rs592797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs649575	0.87[AMR][1000 genomes]
rs72855209	0.85[AMR][1000 genomes]
rs930113	0.99[AFR][1000 genomes];1.00[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74733600-74738800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74733800-74736400	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:74734000-74735800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:74734000-74735800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:74734000-74736400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:74734200-74737000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:74734400-74735800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr4:74734400-74735800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
9	chr4:74734400-74735800	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr4:74734400-74736200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:74734400-74736200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr4:74734400-74736200	Active TSS	Fetal Intestine Large	intestine
13	chr4:74734400-74736200	Active TSS	Right Atrium	heart
14	chr4:74734400-74736200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr4:74734400-74736200	Active TSS	A549	lung
16	chr4:74734400-74736400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:74734400-74736800	Active TSS	Pancreas	Pancrea
18	chr4:74734600-74735800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:74734600-74735800	Active TSS	Primary T cells from cord blood	blood
20	chr4:74734600-74735800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:74734600-74735800	Active TSS	Brain Anterior Caudate	brain
22	chr4:74734600-74735800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr4:74734600-74735800	Active TSS	Left Ventricle	heart
24	chr4:74734600-74736000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:74734600-74736000	Active TSS	Primary B cells from cord blood	blood
26	chr4:74734600-74736200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr4:74734600-74736200	Active TSS	Esophagus	oesophagus
28	chr4:74734800-74735800	Bivalent Enhancer	Fetal Lung	lung
29	chr4:74734800-74735800	Active TSS	Gastric	stomach
30	chr4:74734800-74735800	Bivalent/Poised TSS	NH-A	brain
31	chr4:74734800-74736000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr4:74734800-74736000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:74734800-74736000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:74734800-74736000	Active TSS	Right Ventricle	heart
35	chr4:74734800-74736200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:74734800-74736200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:74734800-74736200	Bivalent/Poised TSS	Psoas Muscle	Psoas
38	chr4:74734800-74736200	Active TSS	Spleen	Spleen
39	chr4:74734800-74736600	Active TSS	NHDF-Ad	bronchial
40	chr4:74734800-74736800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr4:74735000-74735800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:74735000-74735800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:74735000-74736000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr4:74735000-74736800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:74735000-74737000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr4:74735000-74737400	Active TSS	Primary hematopoietic stem cells	blood
47	chr4:74735200-74735800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:74735200-74736200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:74735200-74736600	Flanking Active TSS	HMEC	breast
50	chr4:74735400-74735800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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