Variant report

Variant	rs73237014
Chromosome Location	chr4:47489308-47489309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11945442	1.00[ASN][1000 genomes]
rs4292304	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7693300	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47486800-47489400	Active TSS	Brain Angular Gyrus	brain
2	chr4:47486800-47489600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:47486800-47490000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:47487000-47489600	Active TSS	HSMMtube	muscle
5	chr4:47487200-47489400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:47487200-47489400	Active TSS	NHEK	skin
7	chr4:47487200-47489600	Active TSS	HMEC	breast
8	chr4:47487200-47489800	Active TSS	Placenta	Placenta
9	chr4:47488000-47492400	Weak transcription	Spleen	Spleen
10	chr4:47488000-47492600	Weak transcription	Gastric	stomach
11	chr4:47488000-47533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:47488400-47489800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:47488600-47489600	Weak transcription	Fetal Heart	heart
14	chr4:47488600-47490800	Weak transcription	Left Ventricle	heart
15	chr4:47488600-47492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:47488600-47495400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:47488600-47495600	Weak transcription	Small Intestine	intestine
18	chr4:47488600-47500000	Weak transcription	Fetal Brain Male	brain
19	chr4:47488600-47514400	Weak transcription	Lung	lung
20	chr4:47488600-47524600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:47488800-47489400	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:47488800-47489400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:47488800-47489600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:47488800-47489600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:47488800-47489600	Weak transcription	GM12878-XiMat	blood
26	chr4:47488800-47489800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:47488800-47489800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:47488800-47490000	Enhancers	Primary B cells from cord blood	blood
29	chr4:47488800-47490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:47488800-47492400	Weak transcription	Liver	Liver
31	chr4:47488800-47492600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:47488800-47492600	Weak transcription	NHDF-Ad	bronchial
33	chr4:47488800-47493400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:47488800-47495200	Weak transcription	Fetal Kidney	kidney
35	chr4:47488800-47495400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:47488800-47495600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:47488800-47495600	Weak transcription	Fetal Lung	lung
38	chr4:47488800-47500800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:47488800-47502400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:47488800-47502600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:47488800-47559800	Weak transcription	Right Ventricle	heart
42	chr4:47489000-47489400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:47489000-47489400	Weak transcription	Brain Anterior Caudate	brain
44	chr4:47489000-47489400	Enhancers	Dnd41	blood
45	chr4:47489000-47489400	Active TSS	Osteobl	bone
46	chr4:47489000-47489600	Weak transcription	Colon Smooth Muscle	Colon
47	chr4:47489000-47489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:47489000-47489800	Weak transcription	NH-A	brain
49	chr4:47489000-47490000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr4:47489000-47490800	Weak transcription	Pancreas	Pancrea

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