Variant report

Variant	rs58560650
Chromosome Location	chr11:19240638-19240639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19238815..19240726-chr11:19260591..19263384,2	K562	blood:
2	chr11:19234036..19235800-chr11:19239215..19241038,2	K562	blood:

Variant related genes	Relation type
ENSG00000129173	Chromatin interaction

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

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

rs_ID	r²[population]
rs11025060	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104244	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7951347	0.86[AFR][1000 genomes];1.00[AMR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19229400-19244800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:19229600-19245000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:19232000-19242800	Weak transcription	Right Atrium	heart
4	chr11:19238200-19240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:19238400-19241600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:19238600-19244600	Weak transcription	Fetal Thymus	thymus
7	chr11:19238800-19241600	Enhancers	Fetal Muscle Leg	muscle
8	chr11:19238800-19242400	Weak transcription	HUVEC	blood vessel
9	chr11:19239000-19241000	Enhancers	Esophagus	oesophagus
10	chr11:19239000-19241000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:19239000-19261800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:19239400-19240800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr11:19239600-19259000	Weak transcription	Brain Germinal Matrix	brain
14	chr11:19239800-19240800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:19239800-19240800	Enhancers	Brain Angular Gyrus	brain
16	chr11:19239800-19240800	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:19239800-19240800	Enhancers	Fetal Intestine Small	intestine
18	chr11:19239800-19241000	Enhancers	Brain Hippocampus Middle	brain
19	chr11:19239800-19241000	Enhancers	Gastric	stomach
20	chr11:19240000-19240800	Flanking Active TSS	Fetal Heart	heart
21	chr11:19240000-19241000	Enhancers	Fetal Brain Male	brain
22	chr11:19240000-19241000	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:19240000-19241000	Enhancers	HSMM	muscle
24	chr11:19240000-19243000	Weak transcription	Right Ventricle	heart
25	chr11:19240000-19249800	Weak transcription	HMEC	breast
26	chr11:19240200-19240800	Enhancers	Brain Substantia Nigra	brain
27	chr11:19240200-19240800	Flanking Active TSS	HSMMtube	muscle
28	chr11:19240200-19241000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:19240200-19241000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
30	chr11:19240200-19241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:19240200-19241000	Enhancers	Left Ventricle	heart
32	chr11:19240200-19241000	Enhancers	Hela-S3	cervix
33	chr11:19240400-19240800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:19240400-19240800	Bivalent Enhancer	NHDF-Ad	bronchial
35	chr11:19240400-19240800	Flanking Active TSS	NHEK	skin
36	chr11:19240400-19241000	Enhancers	Fetal Stomach	stomach
37	chr11:19240400-19241000	Enhancers	Lung	lung
38	chr11:19240400-19243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:19240600-19240800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:19240600-19240800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:19240600-19240800	Enhancers	Small Intestine	intestine
42	chr11:19240600-19240800	Enhancers	Stomach Mucosa	stomach
43	chr11:19240600-19240800	Bivalent Enhancer	K562	blood
44	chr11:19240600-19241600	Enhancers	Psoas Muscle	Psoas
45	chr11:19240600-19243000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:19240600-19243000	Weak transcription	Fetal Intestine Large	intestine

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