Variant report

Variant	rs6813714
Chromosome Location	chr4:148730453-148730454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17023836	0.86[EUR][1000 genomes]
rs4835458	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6535562	0.92[EUR][1000 genomes]
rs6535563	0.92[EUR][1000 genomes]
rs6824823	1.00[EUR][1000 genomes]
rs7660941	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
2	chr4:148716000-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:148716600-148732800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:148721600-148734400	Weak transcription	Fetal Stomach	stomach
5	chr4:148721600-148737200	Weak transcription	Gastric	stomach
6	chr4:148721800-148735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:148722000-148733000	Weak transcription	Esophagus	oesophagus
9	chr4:148724000-148733400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:148729000-148731000	Enhancers	Ovary	ovary
11	chr4:148729000-148731200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:148729000-148731600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:148729200-148730600	Enhancers	Right Ventricle	heart
14	chr4:148729200-148730800	Enhancers	HSMMtube	muscle
15	chr4:148729200-148731000	Enhancers	Right Atrium	heart
16	chr4:148729200-148731000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:148729200-148731200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:148729200-148731200	Enhancers	Left Ventricle	heart
19	chr4:148729200-148732000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:148729200-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:148729400-148730800	Enhancers	Fetal Heart	heart
22	chr4:148729400-148731000	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:148729400-148731000	Enhancers	Colon Smooth Muscle	Colon
24	chr4:148729400-148731000	Enhancers	Fetal Muscle Leg	muscle
25	chr4:148729400-148742200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:148729600-148730800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:148729600-148731000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:148729800-148731000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:148729800-148731000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr4:148729800-148733000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:148729800-148733000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:148729800-148733600	Weak transcription	NHDF-Ad	bronchial
33	chr4:148730000-148730800	Enhancers	Thymus	Thymus
34	chr4:148730000-148731000	Enhancers	Lung	lung
35	chr4:148730000-148731000	Enhancers	Psoas Muscle	Psoas
36	chr4:148730000-148732800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:148730000-148733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:148730000-148734400	Weak transcription	Osteobl	bone
39	chr4:148730000-148742200	Weak transcription	HSMM	muscle
40	chr4:148730200-148730800	Weak transcription	Pancreas	Pancrea
41	chr4:148730200-148730800	Enhancers	GM12878-XiMat	blood
42	chr4:148730200-148732400	Weak transcription	Aorta	Aorta
43	chr4:148730200-148734000	Weak transcription	NHLF	lung
44	chr4:148730200-148734400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:148730200-148734400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:148730200-148734400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:148730200-148734400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:148730200-148737400	Weak transcription	Brain Anterior Caudate	brain
49	chr4:148730400-148733000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:148730400-148733400	Weak transcription	Adipose Nuclei	Adipose

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