Variant report

Variant	rs248332
Chromosome Location	chr5:179373399-179373400
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179372183..179374228-chr5:179375426..179378346,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs155576	0.84[CEU][hapmap]
rs155577	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs190328	0.81[CEU][hapmap]
rs248216	0.81[CEU][hapmap]
rs248321	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs248330	0.88[CEU][hapmap]
rs27010	0.88[CEU][hapmap]

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	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179344600-179381600	Weak transcription	Fetal Brain Male	brain
2	chr5:179347200-179381000	Weak transcription	Brain Angular Gyrus	brain
3	chr5:179354200-179381400	Weak transcription	Fetal Brain Female	brain
4	chr5:179359000-179381000	Weak transcription	Brain Substantia Nigra	brain
5	chr5:179359000-179381200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:179360200-179377400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:179363400-179373800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:179366600-179382000	Weak transcription	Fetal Lung	lung
9	chr5:179367000-179374000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:179367400-179381400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:179368400-179381400	Weak transcription	Left Ventricle	heart
12	chr5:179369000-179381000	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:179369000-179381400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:179369800-179381400	Weak transcription	Ovary	ovary
15	chr5:179370000-179382800	Weak transcription	Lung	lung
16	chr5:179370200-179392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:179370400-179374000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:179370400-179374200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:179370400-179376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:179370800-179374000	Weak transcription	Liver	Liver
21	chr5:179370800-179380800	Weak transcription	Adipose Nuclei	Adipose
22	chr5:179370800-179386800	Weak transcription	HepG2	liver
23	chr5:179371000-179381400	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:179371800-179377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:179372000-179373400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:179372000-179381000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:179372200-179373400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:179372200-179373400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:179372200-179376200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:179372200-179381200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:179372200-179386800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:179372400-179382000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:179372600-179374000	Weak transcription	Brain Germinal Matrix	brain
34	chr5:179372800-179373400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:179372800-179374200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:179372800-179381800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:179372800-179382000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:179373000-179374200	Weak transcription	Fetal Stomach	stomach
39	chr5:179373000-179375400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:179373000-179381200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:179373000-179382000	Weak transcription	Aorta	Aorta
42	chr5:179373000-179382000	Weak transcription	Gastric	stomach
43	chr5:179373000-179382800	Weak transcription	Brain Anterior Caudate	brain
44	chr5:179373000-179389600	Weak transcription	Fetal Intestine Large	intestine
45	chr5:179373200-179381400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:179373200-179381600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:179373200-179381800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:179373200-179382000	Weak transcription	Right Ventricle	heart
49	chr5:179373200-179382200	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:179373200-179383000	Weak transcription	H9 Cell Line	embryonic stem cell

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