Variant report

Variant	rs7681445
Chromosome Location	chr4:121730089-121730090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10003374	1.00[ASN][1000 genomes]
rs10005334	0.89[ASN][1000 genomes]
rs10023476	0.89[ASN][1000 genomes]
rs10023764	0.89[ASN][1000 genomes]
rs10026006	1.00[ASN][1000 genomes]
rs10049714	0.89[ASN][1000 genomes]
rs1496275	0.89[ASN][1000 genomes]
rs1511310	1.00[ASN][1000 genomes]
rs17051233	0.89[ASN][1000 genomes]
rs17051249	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17051257	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17051264	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28384319	0.89[ASN][1000 genomes]
rs28532205	0.89[ASN][1000 genomes]
rs28564955	0.89[ASN][1000 genomes]
rs28611362	0.89[ASN][1000 genomes]
rs28752050	0.89[ASN][1000 genomes]
rs56998648	1.00[ASN][1000 genomes]
rs57391956	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57504308	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58312461	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58663639	1.00[ASN][1000 genomes]
rs59315146	0.89[ASN][1000 genomes]
rs59788809	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60012498	1.00[ASN][1000 genomes]
rs60937110	1.00[ASN][1000 genomes]
rs61055437	1.00[ASN][1000 genomes]
rs6814313	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6826221	1.00[ASN][1000 genomes]
rs73845482	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv879855	chr4:121691899-121747335	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv879856	chr4:121697932-121737767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv879857	chr4:121697932-121747335	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv879858	chr4:121703336-121747335	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:121707200-121730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:121718600-121730800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:121720600-121731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:121722800-121730400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:121722800-121733000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:121722800-121737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:121723000-121730600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:121723000-121730600	Weak transcription	NHDF-Ad	bronchial
10	chr4:121723000-121738000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:121723600-121743000	Weak transcription	Fetal Heart	heart
12	chr4:121726400-121743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:121727200-121739000	Weak transcription	Gastric	stomach
14	chr4:121728200-121732000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr4:121728600-121730200	Strong transcription	Ovary	ovary
16	chr4:121728600-121730400	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr4:121728600-121732200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:121728800-121730200	Strong transcription	Fetal Muscle Leg	muscle
19	chr4:121728800-121730400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:121728800-121730400	ZNF genes & repeats	Aorta	Aorta
21	chr4:121728800-121730400	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr4:121728800-121730400	ZNF genes & repeats	Lung	lung
23	chr4:121728800-121730400	Strong transcription	Pancreas	Pancrea
24	chr4:121728800-121732000	Strong transcription	Fetal Lung	lung
25	chr4:121729000-121730200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:121729000-121730200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:121729000-121730400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:121729000-121738000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:121729200-121737400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:121729400-121737400	Weak transcription	Left Ventricle	heart
31	chr4:121729600-121730200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:121729600-121730200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:121729600-121730200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
34	chr4:121729600-121730400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:121729600-121730400	ZNF genes & repeats	Esophagus	oesophagus
36	chr4:121729600-121730400	ZNF genes & repeats	Fetal Stomach	stomach
37	chr4:121729600-121731400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr4:121729600-121731800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:121729800-121730200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:121729800-121730400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:121729800-121731200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:121730000-121730200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr4:121730000-121730200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr4:121730000-121730200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
46	chr4:121730000-121730800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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