Variant report

Variant	rs72718142
Chromosome Location	chr4:186587865-186587866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186587189..186588813-chr4:186591391..186593641,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1021218	1.00[ASN][1000 genomes]
rs13114689	1.00[ASN][1000 genomes]
rs13122307	1.00[ASN][1000 genomes]
rs35656124	1.00[ASN][1000 genomes]
rs6831546	1.00[ASN][1000 genomes]
rs6831871	1.00[ASN][1000 genomes]
rs72718139	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186562800-186600000	Weak transcription	Fetal Kidney	kidney
2	chr4:186567400-186588200	Weak transcription	Stomach Mucosa	stomach
3	chr4:186573600-186592800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:186577800-186597200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:186577800-186604000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:186578200-186593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:186578600-186592200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:186578800-186598000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:186579000-186592000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:186579000-186596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:186579000-186598200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:186579000-186600000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:186579000-186602600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:186579200-186588000	Weak transcription	Brain Angular Gyrus	brain
15	chr4:186579200-186593200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:186579200-186602800	Weak transcription	Osteobl	bone
17	chr4:186579200-186603200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:186582000-186592000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:186582000-186592400	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:186582000-186598000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:186583000-186602600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:186583200-186598200	Weak transcription	Ovary	ovary
23	chr4:186583200-186603200	Weak transcription	HUVEC	blood vessel
24	chr4:186583400-186593400	Weak transcription	Adipose Nuclei	Adipose
25	chr4:186583400-186596400	Weak transcription	HSMM	muscle
26	chr4:186583400-186600400	Weak transcription	Brain Anterior Caudate	brain
27	chr4:186583400-186607200	Weak transcription	Fetal Intestine Large	intestine
28	chr4:186583800-186593200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:186583800-186599800	Weak transcription	Placenta	Placenta
30	chr4:186583800-186602800	Weak transcription	Esophagus	oesophagus
31	chr4:186583800-186604800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:186584000-186598200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:186584000-186602800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:186584200-186597400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:186585600-186591200	Strong transcription	Liver	Liver
36	chr4:186586600-186588600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr4:186587000-186588000	Weak transcription	Fetal Heart	heart
38	chr4:186587200-186589600	Weak transcription	HepG2	liver
39	chr4:186587200-186590000	Weak transcription	Gastric	stomach
40	chr4:186587200-186610600	Weak transcription	Lung	lung
41	chr4:186587400-186589000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:186587400-186589400	Weak transcription	Aorta	Aorta
43	chr4:186587400-186590000	Weak transcription	Fetal Intestine Small	intestine
44	chr4:186587400-186590000	Weak transcription	Pancreas	Pancrea
45	chr4:186587400-186593200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:186587400-186593200	Weak transcription	Fetal Stomach	stomach
47	chr4:186587400-186595000	Weak transcription	Right Ventricle	heart
48	chr4:186587400-186596400	Weak transcription	Spleen	Spleen
49	chr4:186587400-186598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:186587600-186590000	Weak transcription	Left Ventricle	heart

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