Variant report

Variant	rs72660199
Chromosome Location	chr4:86954676-86954677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86951249..86952929-chr4:86954553..86956104,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1469870	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57104166	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60270707	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66850367	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67161777	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72660188	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72660194	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72660195	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72660197	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72660198	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72660200	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72662006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72662010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72662011	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72662012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72662023	0.81[EUR][1000 genomes]
rs7686599	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009622	chr4:86893536-87119153	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86916800-86985400	Weak transcription	Ovary	ovary
2	chr4:86936000-86975600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:86936400-86990600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:86938600-86957800	Weak transcription	Fetal Brain Female	brain
5	chr4:86944600-86963000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:86945400-86963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:86948200-86966600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:86949200-86988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:86950600-86959200	Weak transcription	Fetal Brain Male	brain
10	chr4:86950600-86967000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:86952200-86956000	Weak transcription	Spleen	Spleen
12	chr4:86952600-86956400	Enhancers	Fetal Heart	heart
13	chr4:86953000-86956200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:86953200-86954800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:86953200-86955200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:86953200-86955200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:86953200-86957000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:86953400-86954800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:86953400-86955000	Enhancers	Hela-S3	cervix
20	chr4:86953400-86955000	Enhancers	NHLF	lung
21	chr4:86953400-86955200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:86953400-86955200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:86953400-86955200	Enhancers	Aorta	Aorta
24	chr4:86953400-86955200	Enhancers	Brain Hippocampus Middle	brain
25	chr4:86953400-86955200	Enhancers	Fetal Muscle Leg	muscle
26	chr4:86953600-86954800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:86953600-86954800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:86953600-86954800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:86953600-86955000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr4:86953600-86955200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:86953600-86955200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr4:86953600-86955200	Enhancers	Brain Angular Gyrus	brain
33	chr4:86953600-86955200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:86953600-86955400	Enhancers	Colon Smooth Muscle	Colon
35	chr4:86953600-86956200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:86953800-86954800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:86953800-86954800	Enhancers	Fetal Lung	lung
38	chr4:86953800-86955000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:86953800-86955000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr4:86953800-86955000	Enhancers	Fetal Stomach	stomach
41	chr4:86953800-86959600	Enhancers	HUVEC	blood vessel
42	chr4:86954000-86955000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr4:86954000-86955000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:86954000-86955000	Enhancers	Primary T cells from cord blood	blood
45	chr4:86954000-86955000	Enhancers	Brain Anterior Caudate	brain
46	chr4:86954000-86955000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr4:86954000-86955000	Enhancers	Stomach Mucosa	stomach
48	chr4:86954000-86955200	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:86954000-86955200	Enhancers	Brain Substantia Nigra	brain
50	chr4:86954000-86955200	Enhancers	Right Atrium	heart

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