Variant report

Variant	rs72898751
Chromosome Location	chr1:47131530-47131531
allele	A/C/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	POLR2A	chr1:47131284-47131981	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:47131474-47131654	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47124121..47126688-chr1:47131484..47133286,2	K562	blood:
2	chr1:47130612..47137538-chr1:47138503..47143012,9	K562	blood:
3	chr1:47131372..47133587-chr1:47151853..47154733,2	MCF-7	breast:
4	chr1:47129860..47131954-chr1:47135983..47137506,2	K562	blood:

Variant related genes	Relation type
ATPAF1	TF binding region
TEX38	TF binding region
ENSG00000123472	Chromatin interaction
ENSG00000228237	Chromatin interaction
ENSG00000186118	Chromatin interaction
ENSG00000159658	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56789999	0.84[AFR][1000 genomes]
rs57224270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900765	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:47101600-47133000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:47103000-47132800	Weak transcription	Spleen	Spleen
4	chr1:47105000-47132800	Weak transcription	Stomach Mucosa	stomach
5	chr1:47109400-47132600	Weak transcription	Hela-S3	cervix
6	chr1:47109600-47132600	Weak transcription	HMEC	breast
7	chr1:47115600-47133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:47115800-47132000	Weak transcription	Fetal Heart	heart
9	chr1:47116000-47131800	Weak transcription	Aorta	Aorta
10	chr1:47118000-47132800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:47119000-47132400	Weak transcription	A549	lung
12	chr1:47119200-47132400	Weak transcription	Small Intestine	intestine
13	chr1:47121000-47133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:47122400-47132000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:47122600-47132200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:47122600-47133000	Weak transcription	Gastric	stomach
17	chr1:47122800-47132000	Weak transcription	NHLF	lung
18	chr1:47122800-47132200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:47123600-47132600	Weak transcription	HUVEC	blood vessel
20	chr1:47123600-47133000	Weak transcription	HSMMtube	muscle
21	chr1:47125200-47133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:47125400-47131600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:47125400-47132000	Weak transcription	Fetal Brain Male	brain
24	chr1:47125400-47133000	Weak transcription	NH-A	brain
25	chr1:47126400-47132000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:47127000-47132200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:47127400-47131800	Strong transcription	Fetal Stomach	stomach
28	chr1:47127400-47132200	Weak transcription	Fetal Lung	lung
29	chr1:47129200-47131600	Strong transcription	Fetal Thymus	thymus
30	chr1:47129200-47132200	Strong transcription	Fetal Intestine Large	intestine
31	chr1:47129200-47132200	Strong transcription	Fetal Intestine Small	intestine
32	chr1:47129400-47131600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:47129400-47131600	Strong transcription	GM12878-XiMat	blood
34	chr1:47129400-47131600	Strong transcription	Osteobl	bone
35	chr1:47129400-47131800	Strong transcription	Primary B cells from cord blood	blood
36	chr1:47129400-47131800	Strong transcription	Placenta	Placenta
37	chr1:47129400-47131800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:47129400-47132000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:47129400-47132000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:47129400-47132000	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:47129400-47132200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:47129400-47132200	Strong transcription	Fetal Brain Female	brain
43	chr1:47129600-47131600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:47129800-47131600	Strong transcription	NHDF-Ad	bronchial
45	chr1:47129800-47131800	Strong transcription	Colon Smooth Muscle	Colon
46	chr1:47130000-47131600	Strong transcription	Rectal Smooth Muscle	rectum
47	chr1:47130000-47132000	Strong transcription	Ovary	ovary
48	chr1:47130400-47133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:47130600-47132200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:47130600-47132800	Weak transcription	Primary hematopoietic stem cells	blood

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