Variant report

Variant	rs34182893
Chromosome Location	chr4:124571661-124571662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11726784	0.95[EUR][1000 genomes]
rs11735849	0.89[EUR][1000 genomes]
rs11736421	0.83[EUR][1000 genomes]
rs12500929	0.80[EUR][1000 genomes]
rs13113892	0.95[EUR][1000 genomes]
rs1364875	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1425414	0.88[EUR][1000 genomes]
rs2042628	0.80[EUR][1000 genomes]
rs2553356	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2553366	0.82[EUR][1000 genomes]
rs2553370	0.88[EUR][1000 genomes]
rs2589838	0.93[EUR][1000 genomes]
rs2589845	0.87[EUR][1000 genomes]
rs2589854	0.86[EUR][1000 genomes]
rs2589856	0.89[EUR][1000 genomes]
rs35748127	0.89[EUR][1000 genomes]
rs62319743	0.98[EUR][1000 genomes]
rs7657498	0.80[EUR][1000 genomes]
rs890181	0.81[EUR][1000 genomes]
rs890182	0.89[EUR][1000 genomes]
rs890183	0.89[EUR][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv879873	chr4:124528452-124590869	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv879874	chr4:124550693-124607201	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124570000-124573200	Enhancers	Stomach Mucosa	stomach
2	chr4:124570000-124573600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:124570200-124571800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:124570200-124571800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:124570200-124572800	Enhancers	Fetal Lung	lung
6	chr4:124570200-124573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:124570400-124571800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:124570400-124571800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:124570400-124571800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:124570400-124572400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:124570400-124572800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:124570400-124572800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:124570400-124573600	Enhancers	Adipose Nuclei	Adipose
14	chr4:124570600-124571800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:124570600-124571800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:124570600-124571800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:124570600-124571800	Enhancers	Brain Hippocampus Middle	brain
18	chr4:124570600-124571800	Flanking Active TSS	NHDF-Ad	bronchial
19	chr4:124570600-124573200	Enhancers	HSMMtube	muscle
20	chr4:124570800-124571800	Enhancers	Aorta	Aorta
21	chr4:124570800-124571800	Enhancers	Liver	Liver
22	chr4:124570800-124571800	Active TSS	Right Atrium	heart
23	chr4:124570800-124571800	Active TSS	HepG2	liver
24	chr4:124570800-124572200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr4:124570800-124572200	Active TSS	Psoas Muscle	Psoas
26	chr4:124570800-124572600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:124571000-124571800	Enhancers	Fetal Brain Male	brain
28	chr4:124571000-124571800	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr4:124571000-124572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:124571000-124572400	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr4:124571000-124573400	Active TSS	Fetal Muscle Trunk	muscle
32	chr4:124571000-124574200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:124571200-124571800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:124571200-124571800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr4:124571200-124572400	Weak transcription	Pancreas	Pancrea
36	chr4:124571200-124572600	Weak transcription	Small Intestine	intestine
37	chr4:124571200-124572800	Weak transcription	Colonic Mucosa	Colon
38	chr4:124571200-124573600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:124571400-124571800	Flanking Active TSS	Fetal Stomach	stomach
40	chr4:124571400-124571800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr4:124571400-124571800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr4:124571400-124571800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr4:124571400-124571800	Flanking Active TSS	A549	lung
44	chr4:124571400-124572400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:124571400-124572400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:124571400-124572400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:124571400-124572600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:124571400-124572600	Weak transcription	Brain Anterior Caudate	brain
49	chr4:124571400-124573000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:124571400-124573600	Enhancers	Colon Smooth Muscle	Colon

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