Variant report

Variant	rs200218
Chromosome Location	chr13:50969114-50969115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50964238..50966046-chr13:50967921..50970754,2	K562	blood:
2	chr13:50968255..50970425-chr13:50974605..50976497,2	MCF-7	breast:
3	chr13:50965461..50967034-chr13:50967672..50970449,2	MCF-7	breast:
4	chr13:50698789..50701259-chr13:50967624..50969720,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs188014	0.99[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs200219	0.99[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs201803	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50961600-50973800	Weak transcription	Brain Substantia Nigra	brain
2	chr13:50961600-50974200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:50961600-50974200	Weak transcription	Osteobl	bone
4	chr13:50961600-50974600	Weak transcription	Right Atrium	heart
5	chr13:50961800-50974200	Weak transcription	Psoas Muscle	Psoas
6	chr13:50965000-50969600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:50965200-50969800	Weak transcription	HMEC	breast
8	chr13:50965200-50974600	Weak transcription	HepG2	liver
9	chr13:50965200-50977000	Weak transcription	Esophagus	oesophagus
10	chr13:50966600-50979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:50967400-50974600	Weak transcription	Left Ventricle	heart
12	chr13:50968000-50969200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:50968000-50969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:50968200-50969600	Weak transcription	HSMMtube	muscle
15	chr13:50968200-50970000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:50968200-50970200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:50968200-50970200	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:50968200-50970200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:50968200-50970400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:50968200-50973200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:50968200-50973200	Weak transcription	Brain Hippocampus Middle	brain
22	chr13:50968200-50973400	Weak transcription	Fetal Heart	heart
23	chr13:50968200-50974200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:50968200-50975600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:50968200-50985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:50968200-50986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:50968400-50969800	Weak transcription	HSMM	muscle

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