Variant report

Variant	rs73814676
Chromosome Location	chr4:48140502-48140503
allele	A/C
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	chr4:48139345-48141304	GM12892	blood:	n/a	n/a
2	POLR2A	chr4:48140260-48141354	GM12892	blood:	n/a	n/a
3	POLR2A	chr4:48140282-48141296	GM12891	blood:	n/a	n/a
4	POLR2A	chr4:48137778-48141212	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48139300..48141926-chr4:48270547..48272865,2	MCF-7	breast:
2	chr4:48140322..48143307-chr4:48146663..48148715,2	MCF-7	breast:
3	chr4:48131478..48133698-chr4:48139197..48141386,3	K562	blood:

Variant related genes	Relation type
TXK	TF binding region
ENSG00000135605	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73814663	1.00[AFR][1000 genomes]
rs73814675	1.00[AFR][1000 genomes]
rs73814677	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
2	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
5	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
6	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
8	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:48131800-48141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:48131800-48142000	Weak transcription	NHLF	lung
12	chr4:48132000-48141400	Weak transcription	HUVEC	blood vessel
13	chr4:48132000-48141600	Weak transcription	NHDF-Ad	bronchial
14	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:48132200-48141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:48132400-48142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:48132600-48141000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:48133000-48141800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:48133000-48151400	Weak transcription	HSMMtube	muscle
21	chr4:48133000-48153000	Weak transcription	Placenta	Placenta
22	chr4:48133200-48141000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:48133200-48141800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:48134600-48140600	Weak transcription	Fetal Kidney	kidney
25	chr4:48134800-48141400	Weak transcription	Fetal Brain Male	brain
26	chr4:48135400-48142200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:48135600-48142800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:48136000-48140600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:48136000-48141000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:48136400-48141200	Strong transcription	K562	blood
31	chr4:48136800-48140600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:48137000-48141200	Strong transcription	Liver	Liver
33	chr4:48137000-48141400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:48137400-48140800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr4:48137600-48141200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:48137800-48153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:48138400-48157400	Weak transcription	Aorta	Aorta
38	chr4:48138600-48140800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:48138600-48141800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:48138600-48150400	Weak transcription	Fetal Lung	lung
41	chr4:48138600-48155800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:48138800-48147000	Weak transcription	Esophagus	oesophagus
43	chr4:48139000-48141000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:48139000-48141000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr4:48139000-48142000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr4:48139200-48141000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr4:48139200-48141800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr4:48139200-48143000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:48139200-48143000	Enhancers	Thymus	Thymus
50	chr4:48139200-48154600	Weak transcription	Fetal Intestine Small	intestine

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