Variant report

Variant	rs73814792
Chromosome Location	chr4:48539823-48539824
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48533601..48535229-chr4:48537411..48540962,3	K562	blood:
2	chr4:48537925..48542072-chr4:48545238..48547735,4	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56837574	1.00[AFR][1000 genomes]
rs58018957	1.00[AFR][1000 genomes]
rs58763365	0.83[AFR][1000 genomes]
rs60553677	0.83[AFR][1000 genomes]
rs60750323	1.00[AFR][1000 genomes]
rs6447653	1.00[AFR][1000 genomes]
rs6811201	0.83[AFR][1000 genomes]
rs6825721	1.00[AFR][1000 genomes]
rs6854313	1.00[AFR][1000 genomes]
rs73814790	1.00[AFR][1000 genomes]
rs73814793	1.00[AFR][1000 genomes]
rs73814794	1.00[AFR][1000 genomes]
rs73814796	1.00[AFR][1000 genomes]
rs73814797	1.00[AFR][1000 genomes]
rs73815309	1.00[AFR][1000 genomes]
rs73815310	1.00[AFR][1000 genomes]
rs73815313	1.00[AFR][1000 genomes]
rs73815320	0.83[AFR][1000 genomes]
rs73815323	1.00[AFR][1000 genomes]
rs73817830	1.00[AFR][1000 genomes]
rs73817831	1.00[AFR][1000 genomes]
rs73817833	1.00[AFR][1000 genomes]
rs7665696	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48496200-48540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:48498200-48540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr4:48499200-48540000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:48499600-48581400	Strong transcription	Dnd41	blood
8	chr4:48499800-48540000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:48500400-48540000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:48505400-48540000	Strong transcription	HSMM	muscle
15	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
16	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
17	chr4:48509400-48540000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:48512200-48542400	Weak transcription	Stomach Mucosa	stomach
19	chr4:48512200-48545000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
21	chr4:48519400-48566200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:48522600-48563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:48524600-48542400	Weak transcription	Psoas Muscle	Psoas
24	chr4:48525000-48544800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:48525000-48595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:48525200-48540800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:48525200-48542400	Weak transcription	Right Ventricle	heart
28	chr4:48525200-48543600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:48525200-48543600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:48525200-48544800	Weak transcription	Spleen	Spleen
31	chr4:48525200-48552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:48528200-48545200	Weak transcription	HepG2	liver
33	chr4:48528200-48596000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:48528800-48543600	Weak transcription	Lung	lung
35	chr4:48529000-48543400	Weak transcription	Fetal Heart	heart
36	chr4:48530400-48542200	Weak transcription	A549	lung
37	chr4:48532200-48542400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:48532800-48543200	Weak transcription	Fetal Brain Female	brain
39	chr4:48533000-48542600	Weak transcription	Esophagus	oesophagus
40	chr4:48533000-48545600	Weak transcription	HSMMtube	muscle
41	chr4:48533000-48552600	Weak transcription	Aorta	Aorta
42	chr4:48533200-48541400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:48533200-48541400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:48533200-48541400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:48533400-48542000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:48533400-48542400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:48533400-48542600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:48533400-48542600	Weak transcription	Ovary	ovary
49	chr4:48533400-48543600	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:48533400-48543600	Weak transcription	Gastric	stomach

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