Variant report

Variant	rs2041068
Chromosome Location	chr7:112125538-112125539
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:112125351-112125562	K562	blood:	n/a	chr7:112125426-112125435 chr7:112125424-112125435 chr7:112125426-112125435 chr7:112125424-112125437 chr7:112125426-112125435 chr7:112125426-112125435 chr7:112125424-112125435
2	CEBPB	chr7:112124771-112125556	IMR90	lung:	n/a	chr7:112125426-112125435 chr7:112125424-112125435 chr7:112125426-112125435 chr7:112125424-112125437 chr7:112125426-112125435 chr7:112125426-112125435 chr7:112125424-112125435

No.	Distal block	Cell Line	Cell type
1	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
2	chr7:112121071..112126030-chr7:112126598..112131851,6	K562	blood:
3	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
4	chr7:112107706..112111230-chr7:112125046..112128552,3	MCF-7	breast:

Variant related genes	Relation type
LSMEM1	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000181016	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17159704	0.87[ASN][1000 genomes]
rs3128380	0.87[ASN][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112100600-112135000	Weak transcription	Esophagus	oesophagus
2	chr7:112111200-112127200	Weak transcription	Fetal Brain Male	brain
3	chr7:112112600-112129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:112113400-112127600	Weak transcription	Spleen	Spleen
5	chr7:112114400-112132000	Weak transcription	HepG2	liver
6	chr7:112116800-112132200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:112117200-112127200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:112117200-112128800	Weak transcription	Dnd41	blood
9	chr7:112117400-112130800	Weak transcription	Thymus	Thymus
10	chr7:112117600-112125800	Weak transcription	Fetal Stomach	stomach
11	chr7:112117600-112131600	Weak transcription	Fetal Intestine Large	intestine
12	chr7:112118800-112141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:112120600-112126200	Enhancers	NHDF-Ad	bronchial
14	chr7:112120800-112126000	Weak transcription	Primary B cells from cord blood	blood
15	chr7:112121000-112126000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:112121000-112126000	Enhancers	Fetal Heart	heart
17	chr7:112121000-112136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:112121200-112132000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:112121600-112129600	Weak transcription	Liver	Liver
20	chr7:112122400-112131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:112122600-112125800	Weak transcription	GM12878-XiMat	blood
22	chr7:112122600-112127000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:112122600-112132400	Weak transcription	Gastric	stomach
24	chr7:112123200-112135400	Weak transcription	Fetal Lung	lung
25	chr7:112123600-112126000	Enhancers	Fetal Muscle Leg	muscle
26	chr7:112123600-112130600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:112123800-112125600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:112123800-112125800	Enhancers	Colon Smooth Muscle	Colon
29	chr7:112124000-112129600	Weak transcription	Aorta	Aorta
30	chr7:112124200-112125600	Enhancers	NH-A	brain
31	chr7:112124200-112127600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:112124200-112127800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:112124400-112126000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:112124600-112125600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:112124600-112126000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr7:112124600-112126000	Enhancers	NHLF	lung
37	chr7:112124800-112125600	Enhancers	Brain Hippocampus Middle	brain
38	chr7:112124800-112126000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:112124800-112126000	Enhancers	Adipose Nuclei	Adipose
40	chr7:112124800-112126000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:112125000-112125800	Weak transcription	Psoas Muscle	Psoas
42	chr7:112125000-112126000	Enhancers	Brain Anterior Caudate	brain
43	chr7:112125000-112126000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:112125000-112126000	Enhancers	Right Ventricle	heart
45	chr7:112125000-112131400	Weak transcription	Primary T cells from cord blood	blood
46	chr7:112125200-112125600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:112125200-112125600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:112125200-112125600	Enhancers	A549	lung
49	chr7:112125200-112126000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:112125200-112127600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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