Variant report

Variant	rs13123129
Chromosome Location	chr4:7756130-7756131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17466832	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17466860	0.86[ASN][1000 genomes]
rs34277472	0.85[EUR][1000 genomes]
rs35384319	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs71612280	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv878575	chr4:7715181-7767755	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7726600-7757200	Weak transcription	Fetal Brain Female	brain
2	chr4:7740200-7765000	Weak transcription	Aorta	Aorta
3	chr4:7740600-7762400	Weak transcription	Pancreas	Pancrea
4	chr4:7741000-7757800	Weak transcription	Lung	lung
5	chr4:7746000-7758800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:7746200-7757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:7746200-7758600	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
9	chr4:7746400-7757800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:7747200-7761800	Weak transcription	Colonic Mucosa	Colon
11	chr4:7748800-7756200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:7749400-7760000	Weak transcription	HSMMtube	muscle
13	chr4:7749400-7765600	Weak transcription	Fetal Brain Male	brain
14	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:7749600-7759000	Weak transcription	Spleen	Spleen
16	chr4:7749800-7757000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7751400-7758000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:7751800-7761000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:7752000-7758200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:7752800-7758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:7753000-7757600	Weak transcription	NH-A	brain
23	chr4:7753000-7757600	Weak transcription	Osteobl	bone
24	chr4:7753000-7758400	Weak transcription	A549	lung
25	chr4:7753000-7760400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:7753000-7761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:7753200-7760200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:7753200-7761000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:7753600-7758600	Weak transcription	Fetal Intestine Large	intestine
30	chr4:7753600-7758800	Strong transcription	Fetal Stomach	stomach
31	chr4:7753800-7757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:7753800-7758600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:7754000-7762000	Weak transcription	NHLF	lung
34	chr4:7754200-7765400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:7754400-7756400	Enhancers	HMEC	breast
36	chr4:7754600-7757800	Weak transcription	HepG2	liver
37	chr4:7754600-7758000	Weak transcription	Gastric	stomach
38	chr4:7755000-7756400	Strong transcription	Fetal Intestine Small	intestine
39	chr4:7755000-7758800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:7755200-7756200	Enhancers	Fetal Muscle Trunk	muscle
41	chr4:7755200-7757200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:7755400-7756600	Enhancers	Esophagus	oesophagus
43	chr4:7755400-7763200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:7755600-7756200	Enhancers	NHEK	skin
46	chr4:7755600-7756600	Genic enhancers	Fetal Muscle Leg	muscle
47	chr4:7755600-7757000	Weak transcription	Brain Germinal Matrix	brain
48	chr4:7755600-7757000	Active TSS	K562	blood
49	chr4:7755600-7757600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:7755800-7756200	Active TSS	Ovary	ovary

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