Variant report

Variant	rs55736249
Chromosome Location	chr5:16735375-16735376
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16728548..16730757-chr5:16733455..16736411,2	MCF-7	breast:
2	chr5:16734341..16736922-chr5:16738909..16741583,2	MCF-7	breast:
3	chr5:16735245..16737580-chr5:16952824..16955569,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58091496	1.00[EUR][1000 genomes]
rs6864209	1.00[EUR][1000 genomes]
rs73755106	1.00[AMR][1000 genomes]
rs73755163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73755168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73755172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73755194	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:16711200-16736400	Weak transcription	Hela-S3	cervix
3	chr5:16711600-16736000	Weak transcription	Placenta	Placenta
4	chr5:16713800-16735600	Weak transcription	Colonic Mucosa	Colon
5	chr5:16714200-16736000	Weak transcription	NHDF-Ad	bronchial
6	chr5:16722600-16736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:16723400-16735600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:16727600-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:16728400-16736200	Weak transcription	Ovary	ovary
10	chr5:16728400-16736800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:16728600-16735400	Weak transcription	Lung	lung
12	chr5:16728600-16736200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:16729000-16735800	Weak transcription	Brain Angular Gyrus	brain
14	chr5:16729000-16736000	Weak transcription	Spleen	Spleen
15	chr5:16729000-16736400	Weak transcription	Psoas Muscle	Psoas
16	chr5:16729800-16735600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:16730000-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:16730000-16735600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:16730800-16735800	Strong transcription	HUVEC	blood vessel
20	chr5:16730800-16741400	Strong transcription	A549	lung
21	chr5:16730800-16744400	Weak transcription	HSMM	muscle
22	chr5:16731000-16735400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:16731600-16735400	Strong transcription	NH-A	brain
24	chr5:16731800-16735600	Enhancers	Fetal Brain Male	brain
25	chr5:16731800-16736000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:16732000-16736000	Weak transcription	NHLF	lung
27	chr5:16732000-16736200	Weak transcription	Gastric	stomach
28	chr5:16732200-16735400	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:16732400-16735400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:16732400-16735400	Strong transcription	NHEK	skin
31	chr5:16732400-16736000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:16732400-16736000	Weak transcription	Adipose Nuclei	Adipose
33	chr5:16732800-16735600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:16733200-16735600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:16733600-16737800	Enhancers	Fetal Kidney	kidney
36	chr5:16733800-16736200	Weak transcription	Osteobl	bone
37	chr5:16734000-16735800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:16734000-16736000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:16734000-16736000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:16734000-16736800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:16734200-16735400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:16734200-16737800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:16734400-16735400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:16734400-16735400	Enhancers	Brain Anterior Caudate	brain
45	chr5:16734400-16735800	Enhancers	Brain Substantia Nigra	brain
46	chr5:16734400-16736000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:16734600-16735600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:16734600-16735800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:16734600-16744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:16734800-16735400	Enhancers	Rectal Mucosa Donor 29	rectum

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