Variant report

Variant	rs4147835
Chromosome Location	chr1:94524825-94524826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17392507	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1801581	0.83[EUR][1000 genomes]
rs41292683	1.00[EUR][1000 genomes]
rs4147834	1.00[ASN][1000 genomes]
rs55712710	0.93[EUR][1000 genomes]
rs56197337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56375042	1.00[EUR][1000 genomes]
rs6658767	0.87[EUR][1000 genomes]
rs72725166	0.90[EUR][1000 genomes]
rs72725167	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72725169	1.00[EUR][1000 genomes]
rs72725178	0.87[EUR][1000 genomes]
rs72725182	0.87[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	nsv871172	chr1:94504545-94535546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94515800-94527200	Weak transcription	Spleen	Spleen
2	chr1:94517200-94526800	Weak transcription	A549	lung
3	chr1:94517200-94527200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:94521000-94534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:94521400-94527200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:94521600-94526600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:94521600-94527000	Weak transcription	NH-A	brain
8	chr1:94521800-94527000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:94522000-94525200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:94522000-94527000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:94522000-94527200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:94522200-94526800	Weak transcription	HMEC	breast
13	chr1:94522200-94527200	Weak transcription	NHEK	skin
14	chr1:94522200-94533800	Weak transcription	Aorta	Aorta
15	chr1:94522400-94525000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:94522400-94525800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:94522400-94526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:94522400-94526800	Weak transcription	HSMM	muscle
19	chr1:94522400-94526800	Weak transcription	HSMMtube	muscle
20	chr1:94522400-94526800	Weak transcription	NHDF-Ad	bronchial
21	chr1:94522400-94527200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:94522600-94527000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:94522600-94528600	Weak transcription	Fetal Lung	lung
24	chr1:94522600-94533200	Weak transcription	Gastric	stomach
25	chr1:94522800-94527000	Weak transcription	Osteobl	bone
26	chr1:94522800-94533400	Weak transcription	Stomach Mucosa	stomach
27	chr1:94523000-94525400	Weak transcription	HepG2	liver
28	chr1:94523000-94527000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:94523200-94533600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:94523600-94530400	Enhancers	Left Ventricle	heart
31	chr1:94523800-94527200	Weak transcription	Psoas Muscle	Psoas
32	chr1:94524200-94526600	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:94524200-94527600	Weak transcription	Lung	lung
34	chr1:94524400-94525000	Enhancers	HUVEC	blood vessel
35	chr1:94524400-94527800	Enhancers	Right Atrium	heart
36	chr1:94524600-94525400	Enhancers	Adipose Nuclei	Adipose
37	chr1:94524600-94531200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:94524800-94525000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:94524800-94525200	Enhancers	Right Ventricle	heart

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