Variant report

Variant	rs7444792
Chromosome Location	chr5:60585889-60585890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60584158..60587247-chr5:60624998..60628232,3	MCF-7	breast:
2	chr5:60579757..60581913-chr5:60583719..60586334,3	K562	blood:
3	chr5:60583853..60586302-chr5:60698832..60700525,2	K562	blood:
4	chr5:60579962..60582786-chr5:60584342..60586019,2	K562	blood:
5	chr5:60580863..60583742-chr5:60584311..60586835,2	MCF-7	breast:
6	chr5:60581805..60584600-chr5:60585174..60586685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4129437	0.80[AMR][1000 genomes]
rs4546329	0.88[ASN][1000 genomes]
rs6889338	0.88[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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60573400-60586600	Weak transcription	Esophagus	oesophagus
2	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
3	chr5:60576600-60588800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:60581200-60586000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:60582800-60586200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:60582800-60586400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:60582800-60586600	Weak transcription	NH-A	brain
8	chr5:60583000-60586400	Weak transcription	Osteobl	bone
9	chr5:60583400-60586400	Weak transcription	Stomach Mucosa	stomach
10	chr5:60583400-60586600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:60583600-60586600	Weak transcription	Fetal Intestine Large	intestine
12	chr5:60583600-60586600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:60583600-60586600	Weak transcription	HepG2	liver
14	chr5:60583600-60587000	Weak transcription	Colonic Mucosa	Colon
15	chr5:60583800-60587200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:60583800-60588200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:60584400-60586000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:60584400-60587200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:60584600-60587000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:60584800-60587000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:60585000-60586400	Weak transcription	A549	lung
22	chr5:60585000-60587200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:60585200-60586400	Enhancers	HUVEC	blood vessel
24	chr5:60585200-60586600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:60585200-60586600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:60585200-60586800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:60585200-60587200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:60585200-60587400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:60585200-60587400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:60585200-60587400	Enhancers	Placenta	Placenta
31	chr5:60585400-60586000	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:60585400-60586000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:60585400-60586000	Enhancers	Lung	lung
34	chr5:60585400-60586000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:60585400-60586400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr5:60585400-60587400	Enhancers	Fetal Lung	lung
37	chr5:60585400-60587600	Enhancers	NHLF	lung
38	chr5:60585400-60589400	Enhancers	Pancreas	Pancrea
39	chr5:60585600-60586200	Weak transcription	Liver	Liver
40	chr5:60585600-60586200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:60585600-60586600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:60585600-60586600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:60585600-60586600	Weak transcription	Brain Anterior Caudate	brain
44	chr5:60585600-60586600	Weak transcription	NHDF-Ad	bronchial
45	chr5:60585600-60587400	Enhancers	Hela-S3	cervix
46	chr5:60585600-60588800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:60585800-60586400	Enhancers	Stomach Smooth Muscle	stomach
48	chr5:60585800-60586600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:60585800-60586600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:60585800-60586600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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