Variant report

Variant	rs7669809
Chromosome Location	chr4:148674649-148674650
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10006193	1.00[ASN][1000 genomes]
rs10011328	1.00[ASN][1000 genomes]
rs11733543	0.86[ASN][1000 genomes]
rs11737828	0.86[ASN][1000 genomes]
rs12502667	0.83[EUR][1000 genomes]
rs12508085	0.93[ASN][1000 genomes]
rs13115978	1.00[ASN][1000 genomes]
rs13144139	0.80[EUR][1000 genomes]
rs1969102	0.84[EUR][1000 genomes]
rs2174220	0.80[ASN][1000 genomes]
rs4490438	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835093	0.83[EUR][1000 genomes]
rs56946313	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59160403	0.93[ASN][1000 genomes]
rs59488354	0.93[ASN][1000 genomes]
rs6535556	0.88[EUR][1000 genomes]
rs6828600	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951430	0.80[EUR][1000 genomes]
rs72953456	0.82[EUR][1000 genomes]
rs72953462	0.87[EUR][1000 genomes]
rs7675072	0.87[ASN][1000 genomes]
rs7680867	0.86[ASN][1000 genomes]
rs7698166	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148656600-148676800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:148656800-148675200	Weak transcription	Fetal Stomach	stomach
4	chr4:148658200-148675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:148663000-148675200	Weak transcription	Fetal Lung	lung
6	chr4:148663200-148675200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:148663200-148675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:148663200-148675200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:148663400-148674800	Weak transcription	HUVEC	blood vessel
10	chr4:148663400-148675000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:148663400-148675000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:148663400-148675000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:148663400-148675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:148663400-148675000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:148663600-148674800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:148663600-148675200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:148663600-148688800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:148664600-148682200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:148665600-148674800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:148665800-148680800	Weak transcription	Thymus	Thymus
21	chr4:148666400-148675000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:148668400-148675200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:148669400-148674800	Weak transcription	HSMMtube	muscle
24	chr4:148669400-148674800	Weak transcription	NHEK	skin
25	chr4:148669400-148675000	Weak transcription	Aorta	Aorta
26	chr4:148669400-148682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:148670000-148675000	Weak transcription	Right Atrium	heart
28	chr4:148670000-148675000	Weak transcription	HSMM	muscle
29	chr4:148670000-148675200	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:148670000-148676000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:148670200-148675000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:148670200-148676400	Weak transcription	Fetal Intestine Small	intestine
33	chr4:148670200-148676800	Weak transcription	Fetal Intestine Large	intestine
34	chr4:148670200-148693200	Weak transcription	Esophagus	oesophagus
35	chr4:148670400-148675000	Weak transcription	Ovary	ovary
36	chr4:148670400-148676600	Weak transcription	Adipose Nuclei	Adipose
37	chr4:148670400-148678400	Weak transcription	Right Ventricle	heart
38	chr4:148671200-148675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:148671200-148675200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:148671400-148674800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:148671400-148675000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:148671400-148675000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:148671400-148675200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:148671400-148675200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:148671400-148675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:148671600-148674800	Weak transcription	NH-A	brain
47	chr4:148671600-148675000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:148671600-148675000	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:148671600-148675000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:148671600-148675200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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