Variant report

Variant	rs4700418
Chromosome Location	chr5:60621839-60621840
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60599716..60602250-chr5:60620590..60622709,2	MCF-7	breast:
2	chr5:60620966..60622709-chr5:60627179..60628762,2	K562	blood:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10939902	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11954859	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12188627	0.84[EUR][1000 genomes]
rs13169711	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13170135	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4352559	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs4391122	0.85[CEU][hapmap]
rs4604142	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6449528	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6449529	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7701440	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7709645	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7720894	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7724551	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60615800-60624200	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:60615800-60624600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:60616000-60624600	Weak transcription	Fetal Stomach	stomach
4	chr5:60616200-60625000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:60616400-60624400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:60616400-60625000	Weak transcription	Gastric	stomach
7	chr5:60616600-60622200	Weak transcription	Adipose Nuclei	Adipose
8	chr5:60616600-60624000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:60616600-60624000	Weak transcription	Left Ventricle	heart
10	chr5:60616800-60624400	Weak transcription	Fetal Heart	heart
11	chr5:60616800-60625800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:60617000-60626200	Weak transcription	Esophagus	oesophagus
13	chr5:60617400-60624200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:60617400-60625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:60619200-60622200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:60619200-60623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:60619200-60623600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:60619200-60623600	Weak transcription	Hela-S3	cervix
19	chr5:60619200-60623600	Weak transcription	NHEK	skin
20	chr5:60619200-60624000	Weak transcription	Lung	lung
21	chr5:60619200-60624400	Weak transcription	Fetal Brain Male	brain
22	chr5:60619200-60624600	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:60619200-60624600	Weak transcription	Right Atrium	heart
24	chr5:60619200-60624600	Weak transcription	Spleen	Spleen
25	chr5:60619200-60625600	Weak transcription	Aorta	Aorta
26	chr5:60619400-60622600	Weak transcription	NH-A	brain
27	chr5:60619400-60623200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:60619400-60623200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:60619400-60623200	Weak transcription	HMEC	breast
30	chr5:60619400-60623200	Weak transcription	NHDF-Ad	bronchial
31	chr5:60619400-60623600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:60619400-60623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:60619400-60623800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:60619400-60624800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:60619400-60624800	Weak transcription	Fetal Kidney	kidney
36	chr5:60619400-60626200	Weak transcription	Small Intestine	intestine
37	chr5:60619600-60623200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:60619800-60622000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:60619800-60623800	Weak transcription	Fetal Intestine Large	intestine
40	chr5:60619800-60624000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:60620000-60622400	Weak transcription	NHLF	lung
42	chr5:60620000-60622400	Weak transcription	Osteobl	bone
43	chr5:60620000-60623200	Weak transcription	HSMM	muscle
44	chr5:60620000-60623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:60620000-60623800	Weak transcription	Fetal Intestine Small	intestine
46	chr5:60620000-60624000	Weak transcription	Fetal Lung	lung
47	chr5:60620000-60624600	Weak transcription	Colonic Mucosa	Colon
48	chr5:60620200-60623400	Weak transcription	A549	lung
49	chr5:60620400-60622400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:60620400-60623600	Weak transcription	Stomach Mucosa	stomach

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