Variant report

Variant	rs10073942
Chromosome Location	chr5:16731947-16731948
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	chr5:16727860..16733317-chr5:16734761..16739949,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10050431	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051970	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10074163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747522	1.00[CHB][hapmap]
rs13361391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28540543	0.80[AFR][1000 genomes]
rs34998371	0.81[AFR][1000 genomes]
rs3860136	1.00[CHB][hapmap]
rs4702164	1.00[CHB][hapmap]
rs6554944	1.00[CHB][hapmap]
rs72732217	0.83[AFR][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	chr5:16722200-16734200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:16722400-16734000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:16722600-16736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:16723400-16735600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:16724600-16734800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:16727600-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:16728000-16732800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:16728400-16733600	Weak transcription	Fetal Kidney	kidney
14	chr5:16728400-16735000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:16728400-16736200	Weak transcription	Ovary	ovary
16	chr5:16728400-16736800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:16728600-16735000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:16728600-16735200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:16728600-16735400	Weak transcription	Lung	lung
20	chr5:16728600-16736200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:16728800-16733400	Strong transcription	Fetal Intestine Large	intestine
22	chr5:16728800-16735000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:16729000-16732000	Weak transcription	Adipose Nuclei	Adipose
24	chr5:16729000-16732400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:16729000-16732400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:16729000-16732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:16729000-16732800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:16729000-16734800	Weak transcription	Pancreas	Pancrea
29	chr5:16729000-16735800	Weak transcription	Brain Angular Gyrus	brain
30	chr5:16729000-16736000	Weak transcription	Spleen	Spleen
31	chr5:16729000-16736400	Weak transcription	Psoas Muscle	Psoas
32	chr5:16729400-16732000	Weak transcription	Brain Germinal Matrix	brain
33	chr5:16729800-16735600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:16730000-16732200	Strong transcription	Fetal Muscle Leg	muscle
35	chr5:16730000-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:16730000-16735600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:16730200-16732000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:16730200-16732000	Strong transcription	Fetal Lung	lung
39	chr5:16730200-16732800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:16730200-16733200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:16730200-16733800	Strong transcription	Osteobl	bone
42	chr5:16730200-16734000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:16730200-16734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:16730200-16735200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr5:16730200-16735200	Strong transcription	HSMMtube	muscle
46	chr5:16730400-16732000	Strong transcription	NHLF	lung
47	chr5:16730400-16732400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:16730400-16732400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:16730400-16734000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:16730600-16732200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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