Variant report

Variant	rs4348124
Chromosome Location	chr4:80573086-80573087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:80562829..80565369-chr4:80570389..80573368,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11929731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17004039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4389606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56659743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58972167	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59575356	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1005152	chr4:80549659-80814456	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80571600-80574000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr4:80571600-80574800	Enhancers	NH-A	brain
3	chr4:80571800-80573200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:80571800-80573600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:80571800-80573600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:80571800-80575400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:80572000-80573200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:80572000-80573200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:80572000-80573600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:80572000-80573800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:80572000-80574200	Enhancers	Fetal Lung	lung
12	chr4:80572000-80574800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:80572000-80575400	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:80572200-80574000	Enhancers	Hela-S3	cervix
15	chr4:80572400-80573200	Enhancers	Fetal Heart	heart
16	chr4:80572400-80573800	Enhancers	Osteobl	bone
17	chr4:80572400-80574000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:80572400-80574000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:80572600-80573200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:80572600-80573400	Enhancers	HUVEC	blood vessel
21	chr4:80572600-80573800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:80572600-80573800	Enhancers	Fetal Brain Male	brain
23	chr4:80572600-80574000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:80572600-80574200	Enhancers	Fetal Kidney	kidney
25	chr4:80572800-80573200	Enhancers	Placenta	Placenta
26	chr4:80572800-80573200	Enhancers	NHEK	skin
27	chr4:80572800-80573600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr4:80572800-80574000	Enhancers	Stomach Smooth Muscle	stomach
29	chr4:80572800-80574200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:80572800-80574800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:80572800-80575400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:80572800-80575600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:80572800-80575600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:80573000-80573800	Weak transcription	Fetal Stomach	stomach
35	chr4:80573000-80574000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:80573000-80574000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:80573000-80575000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:80573000-80575200	Enhancers	Colon Smooth Muscle	Colon

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