Variant report

Variant	rs11943973
Chromosome Location	chr4:89958167-89958168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10006744	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097209	0.87[AFR][1000 genomes]
rs13140085	0.91[AFR][1000 genomes]
rs1343921	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532092	0.91[ASN][1000 genomes]
rs9992522	0.89[AFR][1000 genomes]
rs9993181	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89937200-89975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:89940400-89959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:89940400-89961000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:89944200-89978000	Weak transcription	Pancreas	Pancrea
5	chr4:89945600-89963000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:89946200-89972800	Weak transcription	A549	lung
7	chr4:89955600-89958200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:89956000-89959200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr4:89956000-89959200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:89956600-89959400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:89957200-89958400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr4:89957200-89958800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr4:89957400-89958600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr4:89957400-89959000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:89957400-89959000	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr4:89957600-89958200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr4:89957600-89958200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:89957600-89959000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr4:89957600-89959000	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr4:89957800-89958200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:89957800-89958200	ZNF genes & repeats	Aorta	Aorta
22	chr4:89957800-89958400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:89957800-89958400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:89957800-89958400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:89957800-89958400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:89957800-89958400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:89957800-89958800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr4:89957800-89959200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr4:89957800-89959200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr4:89957800-89959400	ZNF genes & repeats	Fetal Stomach	stomach
31	chr4:89958000-89958200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:89958000-89958400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:89958000-89958400	ZNF genes & repeats	Lung	lung
34	chr4:89958000-89958400	Strong transcription	Ovary	ovary
35	chr4:89958000-89958800	Strong transcription	Fetal Lung	lung
36	chr4:89958000-89959000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr4:89958000-89972200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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