Variant report

Variant	rs55943015
Chromosome Location	chr1:94092816-94092817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94091548..94098915-chr1:94308687..94313875,7	K562	blood:

Variant related genes	Relation type
ENSG00000260464	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs932523	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94077200-94099000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:94081200-94095000	Genic enhancers	HSMM	muscle
4	chr1:94083400-94093800	Weak transcription	Psoas Muscle	Psoas
5	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
6	chr1:94083600-94101600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:94083800-94095000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:94084200-94101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:94085400-94093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:94085400-94107600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:94086800-94098000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:94086800-94101200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:94088200-94094800	Genic enhancers	A549	lung
14	chr1:94088200-94095600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:94088400-94093200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:94088400-94096400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:94088400-94100400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:94088600-94118800	Weak transcription	Gastric	stomach
19	chr1:94089400-94094000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:94089600-94093000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:94089600-94097400	Genic enhancers	NHEK	skin
22	chr1:94090000-94093000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:94090000-94093000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:94090000-94095000	Weak transcription	Stomach Mucosa	stomach
25	chr1:94090400-94093800	Weak transcription	Lung	lung
26	chr1:94090400-94101400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:94090600-94101400	Weak transcription	Right Ventricle	heart
28	chr1:94091000-94093200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:94091000-94093800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:94091000-94095000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:94091200-94093200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:94091200-94095600	Enhancers	HUVEC	blood vessel
33	chr1:94091400-94093600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:94091400-94097000	Weak transcription	HepG2	liver
35	chr1:94091600-94093000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:94091600-94093600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:94091600-94093600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:94091600-94094200	Weak transcription	HSMMtube	muscle
39	chr1:94091600-94094600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:94091600-94095200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:94091600-94101000	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:94091600-94101400	Weak transcription	Brain Angular Gyrus	brain
43	chr1:94091600-94106600	Weak transcription	Aorta	Aorta
44	chr1:94091600-94107600	Weak transcription	Ovary	ovary
45	chr1:94091800-94093600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:94091800-94093800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:94091800-94094200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:94091800-94094400	Weak transcription	Adipose Nuclei	Adipose
49	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
50	chr1:94092000-94095200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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