Variant report

Variant	rs60950346
Chromosome Location	chr4:79542694-79542695
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79542556..79545467-chr4:79549942..79551796,4	K562	blood:
2	chr4:79541751..79544197-chr4:79672798..79674957,2	K562	blood:
3	chr4:79542135..79543835-chr4:79696939..79698842,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10452151	1.00[AMR][1000 genomes]
rs55994157	1.00[AMR][1000 genomes]
rs56071306	1.00[AMR][1000 genomes]
rs56098630	1.00[AMR][1000 genomes]
rs57648305	1.00[AMR][1000 genomes]
rs57649400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59055207	1.00[AMR][1000 genomes]
rs59700988	1.00[AMR][1000 genomes]
rs60681937	1.00[AMR][1000 genomes]
rs60998921	1.00[AMR][1000 genomes]
rs61075598	1.00[AMR][1000 genomes]
rs61238857	1.00[AMR][1000 genomes]
rs73828029	1.00[AMR][1000 genomes]
rs73828034	1.00[AMR][1000 genomes]
rs73828038	1.00[AMR][1000 genomes]
rs73828045	1.00[AMR][1000 genomes]
rs73828046	1.00[AMR][1000 genomes]
rs73828057	1.00[AMR][1000 genomes]
rs73828059	1.00[AMR][1000 genomes]
rs73828064	1.00[AMR][1000 genomes]
rs73828065	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828069	1.00[AMR][1000 genomes]
rs73828070	1.00[AMR][1000 genomes]
rs73828071	1.00[AMR][1000 genomes]
rs73828073	1.00[AMR][1000 genomes]
rs73828074	1.00[AMR][1000 genomes]
rs73828075	1.00[AMR][1000 genomes]
rs73828078	1.00[AMR][1000 genomes]
rs73828079	1.00[AMR][1000 genomes]
rs73828080	1.00[AMR][1000 genomes]
rs73828081	1.00[AMR][1000 genomes]
rs73828083	1.00[AMR][1000 genomes]
rs73828092	1.00[AMR][1000 genomes]
rs73828098	1.00[AMR][1000 genomes]
rs73828100	1.00[AMR][1000 genomes]
rs73828102	1.00[AMR][1000 genomes]
rs73830206	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
3	chr4:79524200-79543400	Weak transcription	A549	lung
4	chr4:79531400-79543000	Weak transcription	Hela-S3	cervix
5	chr4:79531800-79543200	Weak transcription	HUVEC	blood vessel
6	chr4:79533800-79548800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:79534600-79547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:79535600-79543000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:79536400-79550600	Weak transcription	Left Ventricle	heart
10	chr4:79537000-79545800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:79537800-79543400	Weak transcription	HSMM	muscle
12	chr4:79538200-79542800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:79538200-79543000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:79539200-79549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:79539400-79550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:79539600-79550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:79539800-79545200	Weak transcription	GM12878-XiMat	blood
18	chr4:79540200-79543400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:79542200-79543600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:79542200-79555600	Enhancers	Fetal Intestine Small	intestine
21	chr4:79542400-79543400	Flanking Active TSS	K562	blood
22	chr4:79542600-79542800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:79542600-79542800	Enhancers	Right Atrium	heart
24	chr4:79542600-79543200	Enhancers	Placenta	Placenta
25	chr4:79542600-79544000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:79542600-79544000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:79542600-79544000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:79542600-79544200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:79542600-79544200	Enhancers	NHDF-Ad	bronchial
30	chr4:79542600-79544200	Enhancers	NHLF	lung
31	chr4:79542600-79544400	Enhancers	NH-A	brain
32	chr4:79542600-79555600	Enhancers	Fetal Intestine Large	intestine

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