Variant report

Variant	rs4693150
Chromosome Location	chr4:87713028-87713029
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10012566	0.90[ASN][1000 genomes]
rs10050311	0.91[EUR][1000 genomes]
rs11561681	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12171458	0.85[ASN][1000 genomes]
rs17012072	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17420607	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17420966	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17454662	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17694112	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2054592	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2230600	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2287147	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4263359	0.80[AMR][1000 genomes]
rs4693780	0.80[AMR][1000 genomes]
rs4693784	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55670248	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57954319	0.81[ASN][1000 genomes]
rs67867077	0.80[AMR][1000 genomes]
rs72665791	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72665795	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9307026	0.80[ASN][1000 genomes]
rs969734	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830001	chr4:87585278-87748643	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
2	chr4:87639400-87739200	Weak transcription	A549	lung
3	chr4:87642400-87735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:87642600-87719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:87661600-87737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:87661800-87728800	Weak transcription	Pancreas	Pancrea
7	chr4:87689400-87738200	Weak transcription	Gastric	stomach
8	chr4:87690000-87738800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:87690800-87736000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:87692800-87734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:87694400-87724800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:87694400-87725200	Weak transcription	NH-A	brain
13	chr4:87694400-87735600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:87695600-87728600	Weak transcription	Adipose Nuclei	Adipose
15	chr4:87696800-87733600	Weak transcription	NHLF	lung
16	chr4:87698200-87728600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:87698600-87738600	Weak transcription	Brain Angular Gyrus	brain
18	chr4:87699600-87715200	Weak transcription	Brain Substantia Nigra	brain
19	chr4:87700800-87714400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:87702000-87713600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:87702200-87713600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:87703000-87714000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:87705200-87714400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:87706200-87714400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:87709800-87714000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:87709800-87714000	Strong transcription	Fetal Kidney	kidney
27	chr4:87710000-87713200	Strong transcription	Ovary	ovary
28	chr4:87710000-87713400	Strong transcription	Fetal Lung	lung
29	chr4:87710000-87714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:87710400-87714000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr4:87710400-87714000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:87710600-87719200	Weak transcription	Osteobl	bone
33	chr4:87710800-87714400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr4:87711400-87714400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr4:87711400-87714600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:87711400-87714800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:87712000-87713200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:87712000-87713200	Strong transcription	Brain Anterior Caudate	brain
39	chr4:87712000-87736600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:87712400-87713800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:87712400-87713800	Weak transcription	Fetal Brain Female	brain
42	chr4:87712400-87728800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:87712600-87713400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr4:87712600-87713800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:87712600-87714400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:87712600-87714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:87712600-87714600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:87712600-87717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:87712600-87719200	Weak transcription	HMEC	breast
50	chr4:87712600-87719400	Weak transcription	NHDF-Ad	bronchial

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