Variant report

Variant	rs67212481
Chromosome Location	chr4:186599992-186599993
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186595068..186597378-chr4:186599037..186600656,2	K562	blood:
2	chr4:186595068..186597102-chr4:186598930..186600537,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13115051	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13150700	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34150318	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35803875	0.84[ASN][1000 genomes]
rs4493590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55889604	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56058454	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186562800-186600000	Weak transcription	Fetal Kidney	kidney
2	chr4:186577800-186604000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:186579000-186600000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:186579000-186602600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:186579200-186602800	Weak transcription	Osteobl	bone
6	chr4:186579200-186603200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:186583000-186602600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:186583200-186603200	Weak transcription	HUVEC	blood vessel
9	chr4:186583400-186600400	Weak transcription	Brain Anterior Caudate	brain
10	chr4:186583400-186607200	Weak transcription	Fetal Intestine Large	intestine
11	chr4:186583800-186602800	Weak transcription	Esophagus	oesophagus
12	chr4:186583800-186604800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:186584000-186602800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:186587200-186610600	Weak transcription	Lung	lung
15	chr4:186594400-186604000	Weak transcription	Right Atrium	heart
16	chr4:186595200-186606000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:186596800-186602800	Weak transcription	Spleen	Spleen
18	chr4:186596800-186606000	Weak transcription	Right Ventricle	heart
19	chr4:186596800-186610600	Weak transcription	Gastric	stomach
20	chr4:186597200-186626000	Weak transcription	HepG2	liver
21	chr4:186597800-186602800	Weak transcription	NH-A	brain
22	chr4:186598400-186613200	Weak transcription	Fetal Stomach	stomach
23	chr4:186598600-186600400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:186598600-186602000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:186598600-186603400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:186598600-186605000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:186598600-186610400	Weak transcription	Aorta	Aorta
28	chr4:186598600-186610600	Weak transcription	Pancreas	Pancrea
29	chr4:186598600-186615800	Weak transcription	Fetal Intestine Small	intestine
30	chr4:186599000-186600600	Weak transcription	Ovary	ovary
31	chr4:186599000-186602800	Weak transcription	HSMM	muscle
32	chr4:186599600-186600400	Weak transcription	Fetal Heart	heart
33	chr4:186599600-186602000	Weak transcription	Liver	Liver
34	chr4:186599600-186602600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:186599600-186602800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:186599600-186602800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:186599600-186621200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:186599800-186601800	Weak transcription	Left Ventricle	heart
39	chr4:186599800-186603200	Weak transcription	HSMMtube	muscle
40	chr4:186599800-186605200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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