Variant report

Variant	rs72872237
Chromosome Location	chr4:87651865-87651866
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10013483	0.87[AFR][1000 genomes]
rs10027356	0.91[AFR][1000 genomes]
rs28404766	0.87[AFR][1000 genomes]
rs28405932	0.97[AFR][1000 genomes]
rs28465411	0.87[AFR][1000 genomes]
rs28470706	0.87[AFR][1000 genomes]
rs28472633	0.97[AFR][1000 genomes]
rs28537353	0.81[AFR][1000 genomes]
rs28539152	0.97[AFR][1000 genomes]
rs28568305	0.97[AFR][1000 genomes]
rs28676725	0.81[AFR][1000 genomes]
rs28718854	0.87[AFR][1000 genomes]
rs28725465	0.97[AFR][1000 genomes]
rs28798516	0.87[AFR][1000 genomes]
rs61160693	0.97[AFR][1000 genomes]
rs72872254	0.97[AFR][1000 genomes]
rs72872257	0.97[AFR][1000 genomes]
rs72872260	0.97[AFR][1000 genomes]
rs9992507	0.87[AFR][1000 genomes]
rs9994616	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	nsv508296	chr4:87636350-87667372	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv999120	chr4:87646090-87653014	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3467931	chr4:87646378-87651948	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3467932	chr4:87646392-87651948	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87592400-87656400	Weak transcription	Adipose Nuclei	Adipose
2	chr4:87594400-87659800	Weak transcription	Ovary	ovary
3	chr4:87631200-87712200	Weak transcription	Aorta	Aorta
4	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
5	chr4:87636400-87683800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:87637200-87661200	Weak transcription	Pancreas	Pancrea
7	chr4:87639200-87688000	Weak transcription	Fetal Intestine Large	intestine
8	chr4:87639400-87739200	Weak transcription	A549	lung
9	chr4:87640200-87652000	Weak transcription	HMEC	breast
10	chr4:87641600-87660400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:87641800-87683400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:87642000-87655200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:87642000-87661000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:87642200-87692600	Weak transcription	NH-A	brain
15	chr4:87642400-87735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:87642600-87661000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:87642600-87661200	Weak transcription	Brain Germinal Matrix	brain
18	chr4:87642600-87692400	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:87642600-87697600	Weak transcription	Brain Angular Gyrus	brain
20	chr4:87642600-87719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:87642800-87652200	Weak transcription	Brain Substantia Nigra	brain
22	chr4:87644400-87661200	Weak transcription	Osteobl	bone
23	chr4:87644600-87656400	Weak transcription	Brain Anterior Caudate	brain
24	chr4:87644600-87660200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:87644600-87661000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:87644600-87680600	Weak transcription	NHLF	lung
27	chr4:87644800-87655800	Weak transcription	NHEK	skin
28	chr4:87644800-87659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:87644800-87660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:87644800-87661000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:87645000-87652200	Weak transcription	Fetal Kidney	kidney
32	chr4:87645000-87655800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:87645000-87659400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:87645600-87652800	Weak transcription	NHDF-Ad	bronchial
35	chr4:87645600-87655600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:87646000-87652600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:87646800-87652200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:87647800-87652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:87650400-87653600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:87650400-87677400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:87650600-87652000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:87650600-87652800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:87650800-87652000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:87650800-87661000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:87651000-87659400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:87651200-87652000	Strong transcription	Fetal Stomach	stomach
47	chr4:87651200-87653400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:87651400-87652000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:87651400-87654000	Strong transcription	Fetal Lung	lung
50	chr4:87651600-87652000	Enhancers	H1 Cell Line	embryonic stem cell

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