Variant report

Variant	rs34277472
Chromosome Location	chr4:7753360-7753361
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:7753151-7753363	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
AFAP1-AS1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13123129	0.85[EUR][1000 genomes]
rs13151500	0.89[AMR][1000 genomes]
rs17466832	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17466860	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34769859	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35384319	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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:45 , 50 per page) page: 1

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	chr4:7741400-7755000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:7741400-7755200	Weak transcription	Brain Germinal Matrix	brain
7	chr4:7746000-7758800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:7746200-7757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:7746200-7758600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:7746400-7757800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:7747200-7761800	Weak transcription	Colonic Mucosa	Colon
13	chr4:7748800-7756200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:7749400-7760000	Weak transcription	HSMMtube	muscle
15	chr4:7749400-7765600	Weak transcription	Fetal Brain Male	brain
16	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:7749600-7759000	Weak transcription	Spleen	Spleen
18	chr4:7749800-7757000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7750800-7755000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:7751200-7755200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:7751400-7754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:7751400-7758000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:7751800-7754400	Weak transcription	HMEC	breast
24	chr4:7751800-7754800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:7751800-7761000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:7752000-7758200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:7752400-7754400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr4:7752600-7753800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:7752600-7753800	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:7752600-7755200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:7752800-7753400	Weak transcription	Esophagus	oesophagus
32	chr4:7752800-7758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:7753000-7753600	Weak transcription	Fetal Stomach	stomach
35	chr4:7753000-7754000	Weak transcription	HepG2	liver
36	chr4:7753000-7755000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:7753000-7757600	Weak transcription	NH-A	brain
38	chr4:7753000-7757600	Weak transcription	Osteobl	bone
39	chr4:7753000-7758400	Weak transcription	A549	lung
40	chr4:7753000-7760400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:7753000-7761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:7753200-7753600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:7753200-7754800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr4:7753200-7760200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:7753200-7761000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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