Variant report

Variant	rs7721423
Chromosome Location	chr5:179059967-179059968
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179054324..179056626-chr5:179057842..179060388,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10039578	1.00[AFR][1000 genomes]
rs1319925	1.00[AMR][1000 genomes]
rs2411395	1.00[AMR][1000 genomes]
rs6869371	1.00[AFR][1000 genomes]
rs7380741	1.00[AFR][1000 genomes]
rs7729108	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv1033352	chr5:179056475-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179051600-179060600	Weak transcription	Ovary	ovary
2	chr5:179051800-179060600	Weak transcription	Fetal Kidney	kidney
3	chr5:179052000-179061400	Weak transcription	Spleen	Spleen
4	chr5:179052200-179060200	Weak transcription	Stomach Mucosa	stomach
5	chr5:179052200-179060400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:179052200-179060400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:179052200-179060600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:179052200-179060600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:179052200-179060600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:179052200-179060600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:179052200-179060600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:179052200-179060600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:179052200-179060600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:179052200-179060600	Weak transcription	Adipose Nuclei	Adipose
15	chr5:179052200-179060600	Weak transcription	Brain Anterior Caudate	brain
16	chr5:179052200-179060600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:179052200-179060600	Weak transcription	Brain Germinal Matrix	brain
18	chr5:179052200-179060600	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:179052200-179060600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:179052200-179060600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:179052200-179060600	Weak transcription	Esophagus	oesophagus
22	chr5:179052200-179060600	Weak transcription	Fetal Brain Female	brain
23	chr5:179052200-179060600	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:179052200-179060600	Weak transcription	Gastric	stomach
25	chr5:179052200-179060600	Weak transcription	Left Ventricle	heart
26	chr5:179052200-179060600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:179052200-179060600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:179052200-179060600	Weak transcription	Right Ventricle	heart
29	chr5:179052200-179060600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:179052200-179060600	Weak transcription	HMEC	breast
31	chr5:179052200-179060600	Weak transcription	HSMM	muscle
32	chr5:179052200-179060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:179052200-179060800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:179052400-179060000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:179052400-179060600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:179052400-179060600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:179052400-179060600	Weak transcription	Fetal Heart	heart
39	chr5:179052400-179060600	Weak transcription	Fetal Lung	lung
40	chr5:179052400-179060600	Weak transcription	K562	blood
41	chr5:179052400-179060600	Weak transcription	NHLF	lung
42	chr5:179052400-179061000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:179053000-179060400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:179054600-179060600	Weak transcription	HepG2	liver
45	chr5:179054600-179061000	Weak transcription	A549	lung
46	chr5:179055200-179060600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:179056000-179060600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:179057600-179060400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:179057800-179060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:179058800-179060600	Enhancers	Pancreas	Pancrea

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