Variant report

Variant	rs7414379
Chromosome Location	chr1:157993959-157993960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11264874	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037357	0.98[ASN][1000 genomes]
rs1925038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972216	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4445460	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4971174	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971177	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5018263	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55712021	0.95[ASN][1000 genomes]
rs59269620	0.95[ASN][1000 genomes]
rs6427415	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6666443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680191	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527064	1.00[ASN][1000 genomes]
rs7530591	1.00[ASN][1000 genomes]
rs7537784	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7554764	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555783	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
3	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
5	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:157989400-158007400	Weak transcription	Gastric	stomach
7	chr1:157990000-157994600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:157990000-157996400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:157991200-157994600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:157991200-157994600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:157991200-157996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:157991400-157996200	Enhancers	NHDF-Ad	bronchial
13	chr1:157991400-157997000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:157991400-158000400	Weak transcription	Fetal Intestine Large	intestine
15	chr1:157991800-157995000	Weak transcription	Stomach Mucosa	stomach
16	chr1:157991800-158002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:157991800-158007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:157992000-157994400	Weak transcription	Small Intestine	intestine
19	chr1:157992000-157999200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:157992200-157995200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:157992200-157995600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:157992200-157996200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:157992600-157994400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:157992600-157996400	Genic enhancers	NHLF	lung
25	chr1:157992800-157995200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:157992800-158000600	Weak transcription	Thymus	Thymus
27	chr1:157993000-157994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:157993000-157994200	Weak transcription	Right Atrium	heart
29	chr1:157993000-157994400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:157993000-157994400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:157993000-157994400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:157993000-157994400	Weak transcription	Aorta	Aorta
33	chr1:157993000-157994400	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:157993000-157994400	Weak transcription	Fetal Heart	heart
35	chr1:157993000-157994400	Weak transcription	Left Ventricle	heart
36	chr1:157993000-157994400	Weak transcription	Ovary	ovary
37	chr1:157993000-157994400	Weak transcription	HSMM	muscle
38	chr1:157993000-157994400	Weak transcription	NH-A	brain
39	chr1:157993000-157994600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:157993000-157994600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:157993000-157994600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:157993000-157994800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:157993000-157994800	Weak transcription	Colonic Mucosa	Colon
44	chr1:157993000-157994800	Weak transcription	Lung	lung
45	chr1:157993000-157994800	Weak transcription	Right Ventricle	heart
46	chr1:157993000-157995600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:157993000-157995600	Weak transcription	Spleen	Spleen
48	chr1:157993000-157996200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:157993000-157996400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:157993000-157996600	Enhancers	Adipose Nuclei	Adipose

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