Variant report

Variant	rs74127537
Chromosome Location	chr1:151120575-151120576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr1:151120118-151120628	HepG2	liver:	n/a	n/a
2	FOXA1	chr1:151120101-151120629	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151103786..151106331-chr1:151117499..151120768,3	MCF-7	breast:
2	chr1:150979021..150981360-chr1:151118629..151120745,2	K562	blood:
3	chr1:151032665..151034303-chr1:151119415..151121131,2	MCF-7	breast:
4	chr1:151117569..151119365-chr1:151119943..151122465,2	K562	blood:
5	chr1:151114895..151122057-chr1:151125026..151130825,9	MCF-7	breast:
6	chr1:151117604..151120749-chr1:151128246..151131666,4	MCF-7	breast:
7	chr1:151117625..151120818-chr1:151135402..151140051,4	MCF-7	breast:
8	chr1:151106109..151110392-chr1:151117941..151122227,5	K562	blood:
9	chr1:151118376..151121066-chr1:151225165..151227350,2	MCF-7	breast:
10	chr1:151118809..151120860-chr1:151252294..151254808,2	K562	blood:
11	chr1:151117616..151120860-chr1:151252294..151255501,4	K562	blood:
12	chr1:151116657..151121305-chr1:151127749..151129795,4	K562	blood:

No data

Variant related genes	Relation type
SEMA6C	TF binding region
ENSG00000143373	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000261168	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143363	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55716130	0.82[AFR][1000 genomes]
rs58618837	0.82[AFR][1000 genomes]
rs60636837	0.82[AFR][1000 genomes]
rs72992031	1.00[AMR][1000 genomes]
rs74125914	1.00[AMR][1000 genomes]
rs74125915	1.00[AMR][1000 genomes]
rs74127539	0.82[AFR][1000 genomes]
rs74127540	0.82[AFR][1000 genomes]
rs9435954	1.00[AMR][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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151119800-151120600	Enhancers	Fetal Heart	heart
2	chr1:151120000-151120600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr1:151120000-151120600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:151120000-151120600	Enhancers	Brain Angular Gyrus	brain
5	chr1:151120000-151120600	Enhancers	HSMMtube	muscle
6	chr1:151120000-151120800	Flanking Active TSS	HepG2	liver
7	chr1:151120000-151121200	Weak transcription	Left Ventricle	heart
8	chr1:151120000-151121800	Weak transcription	Lung	lung
9	chr1:151120000-151127200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:151120000-151128000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:151120000-151128200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:151120000-151128800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:151120000-151129200	Weak transcription	Aorta	Aorta
14	chr1:151120000-151130800	Weak transcription	Pancreas	Pancrea
15	chr1:151120000-151131200	Weak transcription	Ovary	ovary
16	chr1:151120000-151131400	Weak transcription	NH-A	brain
17	chr1:151120000-151131400	Weak transcription	NHLF	lung
18	chr1:151120200-151120600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151120200-151120600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:151120200-151120600	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:151120200-151120800	Enhancers	Liver	Liver
22	chr1:151120200-151121400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:151120200-151121400	Enhancers	Fetal Intestine Large	intestine
24	chr1:151120200-151127400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:151120200-151127400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:151120200-151127600	Weak transcription	A549	lung
27	chr1:151120200-151127800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:151120200-151127800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:151120200-151127800	Weak transcription	Fetal Stomach	stomach
30	chr1:151120200-151128000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:151120200-151128000	Weak transcription	Brain Anterior Caudate	brain
32	chr1:151120200-151128200	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:151120200-151128200	Weak transcription	Fetal Thymus	thymus
34	chr1:151120200-151128200	Weak transcription	Right Atrium	heart
35	chr1:151120200-151128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:151120200-151128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:151120200-151128800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:151120200-151129000	Weak transcription	Esophagus	oesophagus
39	chr1:151120200-151129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:151120200-151129400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:151120200-151129400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:151120200-151129400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:151120200-151129600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:151120200-151129800	Weak transcription	Fetal Lung	lung
45	chr1:151120200-151130800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:151120200-151131000	Weak transcription	Osteobl	bone
47	chr1:151120200-151131200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:151120200-151132000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:151120200-151132000	Weak transcription	NHDF-Ad	bronchial
50	chr1:151120400-151120600	Enhancers	Fetal Kidney	kidney

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