Variant report

Variant	rs2194114
Chromosome Location	chr5:114914176-114914177
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	chr5:114912124..114914519-chr5:114916578..114919420,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11740361	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1427860	0.84[EUR][1000 genomes]
rs17137978	0.84[EUR][1000 genomes]
rs17393505	0.81[EUR][1000 genomes]
rs17395548	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17395582	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472256	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17472710	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473792	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17474216	0.98[EUR][1000 genomes]
rs3776801	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3776802	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73253029	0.94[ASN][1000 genomes]
rs7712026	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3407318	chr5:114913203-114915201	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114901400-114922400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:114907800-114918200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:114908200-114918600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:114908800-114915200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:114908800-114918600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:114909000-114914400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:114909000-114914400	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:114909000-114914600	Weak transcription	Brain Anterior Caudate	brain
9	chr5:114909000-114914800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:114909000-114918800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:114909000-114919200	Weak transcription	Left Ventricle	heart
12	chr5:114909000-114919200	Weak transcription	Psoas Muscle	Psoas
13	chr5:114910200-114918400	Weak transcription	Fetal Intestine Large	intestine
14	chr5:114910400-114914400	Weak transcription	Brain Substantia Nigra	brain
15	chr5:114910400-114914600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:114910400-114925200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:114910400-114929400	Weak transcription	Adipose Nuclei	Adipose
18	chr5:114910800-114916600	Weak transcription	Ovary	ovary
19	chr5:114911200-114935600	Weak transcription	Gastric	stomach
20	chr5:114911400-114917000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:114911600-114914400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:114911600-114918600	Weak transcription	HSMMtube	muscle
23	chr5:114911800-114922400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:114912000-114915000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:114912000-114924600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:114912200-114915000	Weak transcription	NH-A	brain
27	chr5:114912200-114915200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:114912200-114918600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:114912200-114919200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:114912200-114919200	Weak transcription	HMEC	breast
31	chr5:114912200-114920400	Weak transcription	NHEK	skin
32	chr5:114912200-114921400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:114912400-114915000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:114912400-114915800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:114912600-114916400	Weak transcription	NHLF	lung
36	chr5:114912600-114919200	Weak transcription	HUVEC	blood vessel
37	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
38	chr5:114913400-114915000	Strong transcription	NHDF-Ad	bronchial
39	chr5:114913600-114914600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:114913600-114915000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:114913600-114916400	Enhancers	Primary B cells from peripheral blood	blood
42	chr5:114913600-114924400	Weak transcription	Placenta	Placenta
43	chr5:114913800-114914200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:114913800-114915000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:114913800-114915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:114913800-114915000	Weak transcription	Osteobl	bone
47	chr5:114913800-114915200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:114913800-114917600	Strong transcription	HSMM	muscle
49	chr5:114913800-114919200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:114913800-114921000	Weak transcription	Fetal Lung	lung

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