Variant report

Variant	rs72718139
Chromosome Location	chr4:186581708-186581709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1021218	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13114689	1.00[ASN][1000 genomes]
rs13122307	1.00[ASN][1000 genomes]
rs17076654	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35656124	1.00[ASN][1000 genomes]
rs6831546	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6831871	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72718142	1.00[ASN][1000 genomes]
rs7660420	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186550200-186582800	Weak transcription	Lung	lung
2	chr4:186555600-186584200	Strong transcription	Liver	Liver
3	chr4:186562800-186600000	Weak transcription	Fetal Kidney	kidney
4	chr4:186567400-186588200	Weak transcription	Stomach Mucosa	stomach
5	chr4:186573600-186592800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:186573800-186582800	Weak transcription	Spleen	Spleen
7	chr4:186573800-186583600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:186577800-186597200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:186577800-186604000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:186578000-186582800	Weak transcription	Esophagus	oesophagus
11	chr4:186578200-186581800	Weak transcription	Fetal Stomach	stomach
12	chr4:186578200-186582800	Weak transcription	Aorta	Aorta
13	chr4:186578200-186593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:186578400-186583000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:186578400-186583000	Weak transcription	Ovary	ovary
16	chr4:186578600-186582800	Weak transcription	HSMM	muscle
17	chr4:186578600-186586400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:186578600-186586800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:186578600-186587000	Genic enhancers	Fetal Heart	heart
20	chr4:186578600-186592200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:186578800-186581800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:186578800-186582800	Weak transcription	Placenta	Placenta
23	chr4:186578800-186582800	Weak transcription	Right Atrium	heart
24	chr4:186578800-186583000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:186578800-186584000	Strong transcription	HSMMtube	muscle
26	chr4:186578800-186598000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:186579000-186581800	Weak transcription	Pancreas	Pancrea
28	chr4:186579000-186582600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:186579000-186582600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:186579000-186582600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:186579000-186582600	Weak transcription	Brain Anterior Caudate	brain
32	chr4:186579000-186582600	Weak transcription	Gastric	stomach
33	chr4:186579000-186582600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:186579000-186582600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:186579000-186582600	Weak transcription	NH-A	brain
36	chr4:186579000-186583000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:186579000-186583400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:186579000-186586800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:186579000-186586800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:186579000-186592000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:186579000-186596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:186579000-186598200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:186579000-186600000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:186579000-186602600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:186579200-186581800	Weak transcription	Right Ventricle	heart
46	chr4:186579200-186582600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:186579200-186582800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:186579200-186582800	Weak transcription	Fetal Brain Female	brain
49	chr4:186579200-186583200	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:186579200-186585000	Weak transcription	Brain Cingulate Gyrus	brain

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