Variant report

Variant	rs73353049
Chromosome Location	chr14:103927950-103927951
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	chr14:103923899..103929898-chr14:103931403..103935760,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10132290	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133386	1.00[AMR][1000 genomes]
rs10135716	1.00[AMR][1000 genomes]
rs10138651	1.00[AMR][1000 genomes]
rs10138842	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141919	1.00[AMR][1000 genomes]
rs10145990	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146864	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147675	1.00[AMR][1000 genomes]
rs10148672	1.00[AMR][1000 genomes]
rs10151314	1.00[AMR][1000 genomes]
rs11848774	0.88[AFR][1000 genomes]
rs11851727	1.00[AMR][1000 genomes]
rs13379294	1.00[AMR][1000 genomes]
rs13379421	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631776	1.00[AMR][1000 genomes]
rs35273920	1.00[AMR][1000 genomes]
rs35586956	1.00[AMR][1000 genomes]
rs56134485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56305318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59330484	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59988848	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60236703	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61651942	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359944	1.00[AMR][1000 genomes]
rs73359947	1.00[AMR][1000 genomes]
rs8022746	1.00[AMR][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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
4	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 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	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:103912200-103928400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:103912400-103928600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:103912400-103931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:103912600-103928400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:103912600-103929600	Weak transcription	Brain Substantia Nigra	brain
11	chr14:103912600-103932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:103913000-103929000	Weak transcription	Brain Germinal Matrix	brain
13	chr14:103913200-103929000	Weak transcription	Brain Angular Gyrus	brain
14	chr14:103913200-103929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:103914200-103928600	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:103914800-103928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:103914800-103929200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:103914800-103929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:103916800-103929000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:103918200-103928800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:103918200-103929200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:103918600-103941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:103918800-103928600	Weak transcription	Fetal Lung	lung
24	chr14:103919600-103928800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:103919800-103928600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:103920000-103929000	Weak transcription	Colonic Mucosa	Colon
27	chr14:103920200-103928400	Weak transcription	NHDF-Ad	bronchial
28	chr14:103920400-103928400	Weak transcription	Fetal Brain Female	brain
29	chr14:103920400-103928400	Weak transcription	Placenta	Placenta
30	chr14:103920600-103928400	Weak transcription	Ovary	ovary
31	chr14:103920600-103928600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:103920600-103929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:103922400-103939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:103922800-103928000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:103922800-103928400	Weak transcription	Lung	lung
37	chr14:103922800-103940800	Weak transcription	Fetal Heart	heart
38	chr14:103923000-103928000	Weak transcription	Pancreas	Pancrea
39	chr14:103923000-103928000	Weak transcription	Spleen	Spleen
40	chr14:103923000-103928400	Weak transcription	Fetal Kidney	kidney
41	chr14:103923000-103928400	Weak transcription	Right Ventricle	heart
42	chr14:103923000-103928600	Weak transcription	Brain Anterior Caudate	brain
43	chr14:103923000-103928600	Weak transcription	Gastric	stomach
44	chr14:103923000-103928800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:103923000-103929000	Weak transcription	Esophagus	oesophagus
46	chr14:103923000-103935800	Weak transcription	Psoas Muscle	Psoas
47	chr14:103923000-103941600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:103923200-103929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:103923200-103930200	Weak transcription	K562	blood

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