Variant report

Variant	rs55812347
Chromosome Location	chr5:14461168-14461169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14460512..14463222-chr5:14469089..14471139,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17428704	0.91[AFR][1000 genomes]
rs249809	0.91[EUR][1000 genomes]
rs26185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs26186	0.95[EUR][1000 genomes]
rs26213	0.91[EUR][1000 genomes]
rs62345051	0.91[AFR][1000 genomes]
rs62345053	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14446800-14511400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14449000-14462800	Weak transcription	Brain Substantia Nigra	brain
3	chr5:14449800-14461200	Weak transcription	Esophagus	oesophagus
4	chr5:14450600-14463600	Weak transcription	Small Intestine	intestine
5	chr5:14450800-14509000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:14452000-14466400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:14452800-14473200	Weak transcription	Fetal Heart	heart
8	chr5:14453000-14464600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:14454800-14462600	Weak transcription	Fetal Brain Male	brain
10	chr5:14455000-14468800	Strong transcription	Lung	lung
11	chr5:14455200-14461800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:14456200-14463400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr5:14456600-14465600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:14456800-14462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:14457200-14464000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:14457600-14462200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:14457600-14464000	Strong transcription	Fetal Intestine Large	intestine
18	chr5:14457600-14469200	Strong transcription	GM12878-XiMat	blood
19	chr5:14457800-14463000	Strong transcription	Fetal Intestine Small	intestine
20	chr5:14457800-14463600	Strong transcription	NH-A	brain
21	chr5:14457800-14464000	Strong transcription	Primary B cells from cord blood	blood
22	chr5:14457800-14464000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:14457800-14469200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:14458000-14462800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:14458000-14463400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:14458200-14461600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:14458200-14462800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:14458200-14462800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:14458200-14509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:14458400-14462400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:14458400-14463400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr5:14458400-14490000	Strong transcription	Adipose Nuclei	Adipose
33	chr5:14458600-14461200	Weak transcription	Fetal Thymus	thymus
34	chr5:14458600-14462000	Strong transcription	HSMM	muscle
35	chr5:14458600-14462800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:14458600-14462800	Weak transcription	Brain Angular Gyrus	brain
37	chr5:14458600-14463000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:14458600-14490400	Strong transcription	Fetal Stomach	stomach
39	chr5:14458800-14461600	Strong transcription	NHLF	lung
40	chr5:14458800-14462800	Strong transcription	Osteobl	bone
41	chr5:14458800-14463800	Strong transcription	Placenta	Placenta
42	chr5:14458800-14509000	Strong transcription	Liver	Liver
43	chr5:14458800-14510600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:14459000-14465800	Weak transcription	Fetal Kidney	kidney
45	chr5:14459200-14461600	Strong transcription	HUVEC	blood vessel
46	chr5:14459200-14462600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:14459200-14463400	Strong transcription	Gastric	stomach
48	chr5:14459200-14465000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:14459200-14466400	Strong transcription	Ovary	ovary
50	chr5:14459200-14466600	Strong transcription	Spleen	Spleen

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