Variant report

Variant	rs4572852
Chromosome Location	chr4:173920304-173920305
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:173916638..173918298-chr4:173918525..173921197,2	K562	blood:
2	chr4:173918685..173922576-chr4:174253397..174256418,3	K562	blood:

Variant related genes	Relation type
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17052123	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17059038	1.00[CHB][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17059041	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs17059052	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs17059062	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs17059068	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17059073	0.92[EUR][1000 genomes]
rs17059115	0.82[EUR][1000 genomes]
rs2610198	1.00[CHB][hapmap]
rs2653828	1.00[CHB][hapmap]
rs2653831	1.00[CHB][hapmap]
rs28615626	0.84[EUR][1000 genomes]
rs57813446	0.92[EUR][1000 genomes]
rs57965890	0.92[EUR][1000 genomes]
rs73002071	0.84[EUR][1000 genomes]
rs73870318	0.92[EUR][1000 genomes]
rs73870323	0.92[EUR][1000 genomes]
rs73870330	0.92[EUR][1000 genomes]
rs73870331	0.92[EUR][1000 genomes]
rs73870332	0.92[EUR][1000 genomes]
rs73870333	0.92[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	nsv948856	chr4:173388217-173967546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv949126	chr4:173466221-174051451	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173904200-173935200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:173915800-173920600	Enhancers	HSMMtube	muscle
3	chr4:173916200-173920600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:173916400-173920600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:173916400-173920800	Enhancers	HMEC	breast
6	chr4:173917000-173920600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:173917200-173920600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:173917600-173920600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:173917600-173920800	Enhancers	NH-A	brain
10	chr4:173917800-173920600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:173917800-173920800	Enhancers	Hela-S3	cervix
12	chr4:173917800-173920800	Enhancers	NHDF-Ad	bronchial
13	chr4:173918400-173920400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:173918600-173920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:173918800-173920400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:173919000-173920600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:173919000-173920600	Enhancers	NHLF	lung
18	chr4:173919400-173920400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:173919600-173920400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:173919600-173920400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:173919600-173920400	Flanking Active TSS	Osteobl	bone
22	chr4:173919600-173920600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:173919600-173920600	Enhancers	Fetal Intestine Large	intestine
24	chr4:173919600-173920800	Flanking Active TSS	K562	blood
25	chr4:173919800-173920400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:173919800-173920400	Enhancers	Fetal Intestine Small	intestine
27	chr4:173919800-173920400	Enhancers	Fetal Muscle Leg	muscle
28	chr4:173920000-173920600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:173920000-173920600	Enhancers	Psoas Muscle	Psoas
30	chr4:173920000-173920600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:173920000-173920600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:173920000-173920800	Enhancers	NHEK	skin
33	chr4:173920000-173922800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:173920200-173920400	Enhancers	Aorta	Aorta
35	chr4:173920200-173920600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:173920200-173920600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:173920200-173920600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:173920200-173920600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:173920200-173920600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:173920200-173920600	Enhancers	Esophagus	oesophagus
41	chr4:173920200-173920600	Enhancers	Fetal Muscle Trunk	muscle
42	chr4:173920200-173920600	Enhancers	Gastric	stomach
43	chr4:173920200-173920600	Bivalent Enhancer	Left Ventricle	heart
44	chr4:173920200-173920600	Enhancers	A549	lung
45	chr4:173920200-173920600	Flanking Active TSS	HSMM	muscle

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