Variant report

Variant	rs73847048
Chromosome Location	chr4:128636860-128636861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56001835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56269930	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57634535	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58012456	1.00[AMR][1000 genomes]
rs58639791	1.00[AMR][1000 genomes]
rs59435820	1.00[AMR][1000 genomes]
rs60794286	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61039595	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72616941	0.85[AFR][1000 genomes]
rs73847010	1.00[AMR][1000 genomes]
rs73847012	1.00[AMR][1000 genomes]
rs73847025	1.00[AMR][1000 genomes]
rs73847043	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847052	1.00[AFR][1000 genomes]
rs73847064	0.94[AFR][1000 genomes]
rs73847067	0.94[AFR][1000 genomes]
rs7676926	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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 target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv830056	chr4:128517139-128676557	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv879918	chr4:128543742-128694288	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879919	chr4:128543742-128697519	Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv879920	chr4:128554404-128694288	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv879921	chr4:128554404-128766074	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS 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 target site	22 gene(s)	inside rSNPs	diseases
12	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	esv1793579	chr4:128577439-128871309	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
18	esv1792152	chr4:128585215-128752829	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	nsv879925	chr4:128586241-128665981	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv830057	chr4:128591288-128788777	Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128554600-128644800	Weak transcription	Lung	lung
2	chr4:128566600-128644600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:128597000-128651600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:128598200-128638200	Weak transcription	Esophagus	oesophagus
5	chr4:128606200-128638200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:128608400-128643800	Weak transcription	Right Ventricle	heart
7	chr4:128615200-128642000	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:128615200-128648800	Weak transcription	Fetal Kidney	kidney
9	chr4:128616200-128646200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:128617000-128643400	Weak transcription	Fetal Intestine Small	intestine
11	chr4:128620200-128638400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:128628200-128640400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:128628200-128641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:128628200-128645600	Weak transcription	Brain Substantia Nigra	brain
15	chr4:128628200-128645800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:128628400-128638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:128628400-128639800	Weak transcription	Pancreas	Pancrea
18	chr4:128628400-128643800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:128629400-128645400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:128629800-128640000	Weak transcription	Brain Angular Gyrus	brain
21	chr4:128630600-128638200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:128630600-128641400	Weak transcription	Gastric	stomach
23	chr4:128630600-128643000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:128630600-128643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:128630600-128643400	Weak transcription	Brain Germinal Matrix	brain
26	chr4:128630600-128643400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:128630800-128645400	Weak transcription	Fetal Intestine Large	intestine
28	chr4:128631000-128638200	Weak transcription	HUVEC	blood vessel
29	chr4:128632800-128638600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:128632800-128640000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:128633000-128639800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:128633000-128643400	Weak transcription	Fetal Stomach	stomach
33	chr4:128633000-128644800	Weak transcription	Adipose Nuclei	Adipose
34	chr4:128633000-128645600	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:128633200-128638200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:128633200-128645400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:128633200-128646200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:128633400-128637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:128633400-128640000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:128633800-128647800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:128634000-128637000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:128634000-128643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:128634200-128638000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:128634200-128638000	Weak transcription	Fetal Lung	lung
45	chr4:128634200-128641000	Weak transcription	Fetal Brain Female	brain
46	chr4:128634200-128641600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:128634200-128649000	Weak transcription	Left Ventricle	heart
48	chr4:128634400-128637400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:128634400-128643400	Weak transcription	Aorta	Aorta
50	chr4:128634400-128644000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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