Variant report

Variant	rs41315910
Chromosome Location	chr5:52293762-52293763
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52288695..52291271-chr5:52292952..52294743,2	MCF-7	breast:
2	chr5:52285803..52288356-chr5:52293284..52295985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249899	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2910962	1.00[AFR][1000 genomes]
rs3212666	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv880425	chr5:52291279-52345868	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52286200-52295400	Weak transcription	Pancreas	Pancrea
2	chr5:52286200-52300400	Weak transcription	Gastric	stomach
3	chr5:52286200-52303400	Weak transcription	Small Intestine	intestine
4	chr5:52286200-52313600	Weak transcription	Lung	lung
5	chr5:52286600-52300000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:52286600-52302400	Weak transcription	Fetal Stomach	stomach
7	chr5:52286800-52294400	Weak transcription	Osteobl	bone
8	chr5:52286800-52298800	Weak transcription	Fetal Intestine Large	intestine
9	chr5:52287000-52299400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:52289200-52311600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:52289400-52295600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:52290000-52299800	Weak transcription	NH-A	brain
13	chr5:52290600-52294400	Weak transcription	NHLF	lung
14	chr5:52291000-52295600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:52292000-52294400	Weak transcription	NHDF-Ad	bronchial
16	chr5:52292200-52295600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:52292400-52294800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:52292400-52295200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:52292400-52299200	Weak transcription	Esophagus	oesophagus
20	chr5:52292400-52301000	Weak transcription	Spleen	Spleen
21	chr5:52292400-52303200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:52292600-52294600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:52292600-52294800	Weak transcription	Hela-S3	cervix
24	chr5:52292800-52293800	Flanking Active TSS	A549	lung
25	chr5:52293000-52293800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:52293000-52294200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:52293200-52293800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:52293200-52294200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:52293200-52294400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:52293200-52294400	Weak transcription	Brain Angular Gyrus	brain
31	chr5:52293200-52294400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:52293200-52295800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:52293400-52293800	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr5:52293400-52293800	Enhancers	Fetal Intestine Small	intestine
35	chr5:52293400-52294200	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:52293400-52294400	Enhancers	HepG2	liver
37	chr5:52293400-52295600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:52293400-52295800	Enhancers	Brain Anterior Caudate	brain
39	chr5:52293600-52293800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr5:52293600-52293800	Enhancers	Brain Germinal Matrix	brain
41	chr5:52293600-52293800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr5:52293600-52294000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:52293600-52294000	Weak transcription	Brain Substantia Nigra	brain
44	chr5:52293600-52294400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:52293600-52294400	Weak transcription	HMEC	breast
46	chr5:52293600-52295000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:52293600-52295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:52293600-52295600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:52293600-52295600	Genic enhancers	NHEK	skin
50	chr5:52293600-52297400	Weak transcription	HUVEC	blood vessel

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