Variant report

Variant	rs34034672
Chromosome Location	chr5:114853764-114853765
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114851275..114854449-chr5:114878994..114881449,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13170010	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2964563	1.00[AMR][1000 genomes]
rs34724631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35690726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62371183	1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114843200-114854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114843200-114858800	Weak transcription	Left Ventricle	heart
3	chr5:114843600-114860000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114844000-114859000	Weak transcription	HSMMtube	muscle
5	chr5:114844200-114854200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:114844200-114855000	Weak transcription	HSMM	muscle
7	chr5:114844200-114858000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:114844200-114859800	Weak transcription	Osteobl	bone
10	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
12	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:114846600-114858200	Weak transcription	A549	lung
14	chr5:114846600-114860000	Weak transcription	Ovary	ovary
15	chr5:114846800-114854800	Weak transcription	Dnd41	blood
16	chr5:114846800-114858600	Weak transcription	Brain Anterior Caudate	brain
17	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:114847200-114858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:114847600-114858600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:114848000-114858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
22	chr5:114848400-114858600	Weak transcription	Brain Germinal Matrix	brain
23	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
24	chr5:114848600-114857200	Weak transcription	GM12878-XiMat	blood
25	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
26	chr5:114849000-114858600	Weak transcription	Primary B cells from cord blood	blood
27	chr5:114849200-114858200	Weak transcription	K562	blood
28	chr5:114849200-114859200	Weak transcription	HepG2	liver
29	chr5:114849400-114856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:114849400-114858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:114850000-114855800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:114850600-114858200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:114850800-114858000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:114851200-114858600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:114851600-114858400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:114851600-114858400	Weak transcription	NHLF	lung
37	chr5:114851800-114854400	Weak transcription	Adipose Nuclei	Adipose
38	chr5:114851800-114857000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:114851800-114858800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:114851800-114859000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:114852000-114853800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:114852000-114858000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:114852200-114855400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:114852400-114858200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr5:114852600-114858400	Weak transcription	NH-A	brain
46	chr5:114852800-114858200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:114853200-114854800	Weak transcription	Liver	Liver
48	chr5:114853200-114858200	Strong transcription	NHDF-Ad	bronchial
49	chr5:114853200-114858400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:114853400-114855000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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