Variant report

Variant	rs60975414
Chromosome Location	chr5:179090595-179090596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179032379..179035248-chr5:179088409..179090962,2	MCF-7	breast:
2	chr5:179049220..179051845-chr5:179089709..179092137,2	K562	blood:
3	chr5:179050030..179052067-chr5:179087390..179090621,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176783	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55695911	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55999168	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59643471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61509762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61660720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336082	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336088	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336089	0.93[AFR][1000 genomes];1.00[AMR][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	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
2	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
3	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
4	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
5	nsv1031352	chr5:179082461-179104588	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1023502	chr5:179086091-179105316	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179085800-179090600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:179085800-179090800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:179085800-179090800	Weak transcription	Fetal Lung	lung
4	chr5:179085800-179090800	Weak transcription	Gastric	stomach
5	chr5:179085800-179090800	Weak transcription	Ovary	ovary
6	chr5:179085800-179091200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:179085800-179091200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:179085800-179091200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:179085800-179091200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:179085800-179091400	Weak transcription	Spleen	Spleen
11	chr5:179085800-179092000	Weak transcription	Colonic Mucosa	Colon
12	chr5:179085800-179092200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:179085800-179092200	Weak transcription	Thymus	Thymus
14	chr5:179085800-179099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:179085800-179099400	Weak transcription	Aorta	Aorta
16	chr5:179085800-179103800	Weak transcription	GM12878-XiMat	blood
17	chr5:179085800-179104000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:179085800-179104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:179085800-179104200	Weak transcription	A549	lung
20	chr5:179085800-179104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:179085800-179104600	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:179085800-179104600	Weak transcription	Esophagus	oesophagus
23	chr5:179085800-179104600	Weak transcription	Fetal Kidney	kidney
24	chr5:179085800-179104800	Weak transcription	Right Ventricle	heart
25	chr5:179085800-179105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:179086000-179090600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:179086000-179090600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:179086000-179090600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:179086000-179090800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:179086000-179091000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:179086000-179091000	Weak transcription	Left Ventricle	heart
32	chr5:179086000-179091000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:179086000-179091000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:179086000-179091200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:179086000-179091200	Weak transcription	Brain Anterior Caudate	brain
36	chr5:179086000-179091200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:179086000-179091200	Weak transcription	Fetal Intestine Large	intestine
38	chr5:179086000-179091200	Weak transcription	HepG2	liver
39	chr5:179086000-179091200	Weak transcription	NHLF	lung
40	chr5:179086000-179091400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:179086000-179091400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:179086000-179091400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:179086000-179091400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:179086000-179091400	Weak transcription	Brain Germinal Matrix	brain
45	chr5:179086000-179091400	Weak transcription	Placenta	Placenta
46	chr5:179086000-179091400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr5:179086000-179092000	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:179086000-179092200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:179086000-179092200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:179086000-179092200	Weak transcription	Osteobl	bone

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