Variant report

Variant	rs72811044
Chromosome Location	chr5:179760129-179760130
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179717698..179720150-chr5:179758033..179760822,3	MCF-7	breast:
2	chr5:179720130..179723028-chr5:179758867..179761631,2	MCF-7	breast:
3	chr5:179758118..179760214-chr5:179779421..179781494,2	MCF-7	breast:
4	chr5:179743533..179745138-chr5:179758966..179761002,2	K562	blood:

Variant related genes	Relation type
ENSG00000248367	Chromatin interaction
ENSG00000050748	Chromatin interaction
ENSG00000131459	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
6	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
10	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
11	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
12	nsv883291	chr5:179755559-179818868	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv984575	chr5:179759624-179791220	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179728600-179761400	Weak transcription	Aorta	Aorta
2	chr5:179739600-179761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:179741600-179762600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:179743200-179761000	Weak transcription	Right Ventricle	heart
5	chr5:179744000-179766600	Weak transcription	Gastric	stomach
6	chr5:179746000-179760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:179746000-179761400	Weak transcription	Right Atrium	heart
8	chr5:179752400-179760800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:179752400-179760800	Weak transcription	Brain Substantia Nigra	brain
10	chr5:179755800-179760800	Weak transcription	Lung	lung
11	chr5:179756000-179760800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:179756200-179761000	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:179756200-179761600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:179756400-179760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:179757000-179761000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:179757000-179779000	Weak transcription	Esophagus	oesophagus
17	chr5:179757200-179761000	Weak transcription	Fetal Brain Female	brain
18	chr5:179757800-179760600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:179757800-179765600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:179758000-179761000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:179758200-179760400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:179758200-179760600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:179758400-179760800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:179758600-179761000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:179758600-179761400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:179758800-179760800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:179758800-179761000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:179759000-179760400	Weak transcription	NHDF-Ad	bronchial
29	chr5:179759000-179760600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:179759000-179760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:179759000-179760600	Weak transcription	Adipose Nuclei	Adipose
32	chr5:179759000-179760600	Weak transcription	Brain Anterior Caudate	brain
33	chr5:179759000-179760600	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:179759000-179760600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:179759000-179760600	Enhancers	Hela-S3	cervix
36	chr5:179759000-179760800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:179759000-179760800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:179759000-179760800	Enhancers	A549	lung
39	chr5:179759000-179760800	Weak transcription	HSMMtube	muscle
40	chr5:179759000-179760800	Weak transcription	NHLF	lung
41	chr5:179759000-179761000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:179759000-179761000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:179759000-179761000	Enhancers	NH-A	brain
44	chr5:179759000-179761400	Weak transcription	Fetal Lung	lung
45	chr5:179759000-179762800	Weak transcription	Pancreas	Pancrea
46	chr5:179759000-179764600	Weak transcription	Left Ventricle	heart
47	chr5:179759000-179766600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:179759000-179770200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:179759200-179760200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:179759200-179760400	Weak transcription	HUVEC	blood vessel

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