Variant report

Variant	rs12508066
Chromosome Location	chr4:91985779-91985780
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12650206	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1461590	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1461594	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1461605	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1531404	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28582898	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2870282	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4693255	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5009447	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879559	chr4:91918870-92152678	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv869023	chr4:91940838-92935383	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2757943	chr4:91946664-92146114	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759267	chr4:91946664-92146114	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv10534	chr4:91966600-92009182	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1831682	chr4:91979094-92114281	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91984200-91986400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:91985000-91986400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:91985000-91986400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:91985000-91986400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:91985000-91986400	Enhancers	Fetal Lung	lung
6	chr4:91985200-91985800	Enhancers	Rectal Smooth Muscle	rectum
7	chr4:91985200-91986000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:91985200-91986000	Enhancers	Adipose Nuclei	Adipose
9	chr4:91985200-91986000	Enhancers	Colon Smooth Muscle	Colon
10	chr4:91985200-91986000	Enhancers	Fetal Intestine Large	intestine
11	chr4:91985200-91986000	Enhancers	Hela-S3	cervix
12	chr4:91985200-91986200	Enhancers	Fetal Kidney	kidney
13	chr4:91985200-91986400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:91985200-91986400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:91985200-91986400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:91985200-91987800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:91985400-91985800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:91985400-91985800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:91985400-91985800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:91985400-91985800	Enhancers	Brain Anterior Caudate	brain
21	chr4:91985400-91985800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr4:91985400-91985800	Enhancers	Gastric	stomach
23	chr4:91985400-91986000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:91985400-91986000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:91985400-91986000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:91985400-91986000	Enhancers	Aorta	Aorta
27	chr4:91985400-91986000	Enhancers	Fetal Intestine Small	intestine
28	chr4:91985400-91986000	Enhancers	Fetal Muscle Leg	muscle
29	chr4:91985400-91986000	Enhancers	Fetal Stomach	stomach
30	chr4:91985400-91986000	Enhancers	Left Ventricle	heart
31	chr4:91985400-91986000	Enhancers	Ovary	ovary
32	chr4:91985400-91986000	Enhancers	Pancreas	Pancrea
33	chr4:91985400-91986000	Enhancers	Right Atrium	heart
34	chr4:91985400-91986000	Enhancers	Right Ventricle	heart
35	chr4:91985400-91986000	Enhancers	HMEC	breast
36	chr4:91985400-91986000	Enhancers	HSMMtube	muscle
37	chr4:91985400-91986000	Enhancers	NH-A	brain
38	chr4:91985400-91986200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:91985400-91986200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:91985400-91986200	Enhancers	Fetal Heart	heart
41	chr4:91985400-91986200	Enhancers	NHEK	skin
42	chr4:91985400-91986400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:91985400-91986400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:91985400-91986400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:91985600-91986000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:91985600-91986000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:91985600-91986000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:91985600-91986000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:91985600-91986400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:91985600-91986400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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