Variant report

Variant	rs4757774
Chromosome Location	chr11:19239643-19239644
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:19238815..19240726-chr11:19260591..19263384,2	K562	blood:
2	chr11:19234036..19235800-chr11:19239215..19241038,2	K562	blood:
3	chr11:19238470..19240059-chr11:19258627..19260241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129173	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4756992	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4757773	1.00[CEU][hapmap];1.00[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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1041249	chr11:19229878-19248268	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19229400-19240200	Weak transcription	Left Ventricle	heart
2	chr11:19229400-19244800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:19229600-19245000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:19232000-19242800	Weak transcription	Right Atrium	heart
5	chr11:19238000-19239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:19238000-19240000	Enhancers	HMEC	breast
7	chr11:19238000-19240000	Weak transcription	HSMM	muscle
8	chr11:19238200-19240400	Enhancers	NHEK	skin
9	chr11:19238200-19240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:19238400-19241600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:19238600-19240200	Weak transcription	Hela-S3	cervix
12	chr11:19238600-19244600	Weak transcription	Fetal Thymus	thymus
13	chr11:19238800-19241600	Enhancers	Fetal Muscle Leg	muscle
14	chr11:19238800-19242400	Weak transcription	HUVEC	blood vessel
15	chr11:19239000-19239800	Weak transcription	Gastric	stomach
16	chr11:19239000-19240000	Enhancers	Fetal Heart	heart
17	chr11:19239000-19241000	Enhancers	Esophagus	oesophagus
18	chr11:19239000-19241000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:19239000-19261800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:19239400-19240800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr11:19239600-19240400	Enhancers	Fetal Lung	lung
22	chr11:19239600-19240600	Enhancers	Fetal Intestine Large	intestine
23	chr11:19239600-19259000	Weak transcription	Brain Germinal Matrix	brain

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