Variant report

Variant	rs73769047
Chromosome Location	chr5:77945978-77945979
allele	C/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	chr5:77945487-77946123	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:77943092-77946191	HepG2	liver:	n/a	n/a
3	MAX	chr5:77945692-77946035	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr5:77945557-77946045	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr5:77945965-77946157	HepG2	liver:	n/a	chr5:77946020-77946030
6	CTBP2	chr5:77945603-77946019	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr5:77945542-77946029	H1-hESC	embryonic stem cell:	n/a	chr5:77946018-77946029 chr5:77945544-77945553
8	SPI1	chr5:77945706-77945981	GM12891	blood:	n/a	chr5:77945878-77945887
9	SPI1	chr5:77945779-77945978	K562	blood:	n/a	chr5:77945878-77945887
10	MAZ	chr5:77943090-77946476	IMR90	lung:	n/a	chr5:77945550-77945560 chr5:77943471-77943481
11	CHD2	chr5:77945707-77946074	H1-hESC	embryonic stem cell:	n/a	chr5:77946020-77946030
12	SPI1	chr5:77945735-77945984	GM12878	blood:	n/a	chr5:77945878-77945887
13	SMC3	chr5:77945671-77946177	HepG2	liver:	n/a	n/a
14	MAX	chr5:77945620-77946023	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr5:77945978-77945989	K562	blood:	n/a	n/a
16	CHD1	chr5:77945675-77946014	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr5:77945621-77946017	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:77942112-77946377	IMR90	lung:	n/a	n/a
19	SIN3A	chr5:77943096-77946065	H1-hESC	embryonic stem cell:	n/a	chr5:77943878-77943891 chr5:77943877-77943887 chr5:77943943-77943954 chr5:77944088-77944096 chr5:77945730-77945741 chr5:77944182-77944195 chr5:77944891-77944904
20	RAD21	chr5:77945661-77946266	HepG2	liver:	n/a	n/a
21	RAD21	chr5:77945563-77945978	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr5:77945654-77946071	H1-hESC	embryonic stem cell:	n/a	chr5:77946018-77946030 chr5:77946020-77946029
23	RCOR1	chr5:77945682-77946207	HepG2	liver:	n/a	n/a
24	ELF1	chr5:77945701-77946056	K562	blood:	n/a	chr5:77945876-77945889 chr5:77945878-77945889
25	RAD21	chr5:77945540-77946062	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
2	chr5:77945458..77947369-chr5:77973307..77975636,2	K562	blood:
3	chr5:77945339..77947011-chr5:77970962..77972578,2	K562	blood:
4	chr5:77935628..77937313-chr5:77945519..77948138,2	MCF-7	breast:
5	chr5:77944860..77948164-chr5:77958771..77961486,4	MCF-7	breast:

Variant related genes	Relation type
LHFPL2	TF binding region
ENSG00000145685	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57598768	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522738	chr5:77434730-78063683	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3522739	chr5:77434730-78063683	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv949530	chr5:77830403-78477017	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830356	chr5:77847022-78011999	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021768	chr5:77881915-78465489	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2762527	chr5:77921199-78548196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription 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
7	esv1792242	chr5:77927033-77966625	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv528833	chr5:77937453-78016860	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1795250	chr5:77944003-77949565	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1846202	chr5:77944003-77949565	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77943000-77946000	Active TSS	Fetal Kidney	kidney
2	chr5:77944000-77946000	Active TSS	Stomach Smooth Muscle	stomach
3	chr5:77945000-77946400	Enhancers	K562	blood
4	chr5:77945000-77949000	Weak transcription	Hela-S3	cervix
5	chr5:77945400-77946000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:77945400-77946000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:77945400-77946000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:77945400-77946000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:77945400-77946000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:77945400-77946000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:77945400-77946000	Enhancers	Brain Hippocampus Middle	brain
12	chr5:77945400-77946000	Enhancers	Fetal Intestine Large	intestine
13	chr5:77945400-77946000	Enhancers	Fetal Intestine Small	intestine
14	chr5:77945400-77946000	Enhancers	Fetal Muscle Trunk	muscle
15	chr5:77945400-77946200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:77945400-77946200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:77945400-77946200	Enhancers	Fetal Lung	lung
18	chr5:77945400-77946200	Enhancers	Fetal Muscle Leg	muscle
19	chr5:77945400-77946200	Enhancers	Fetal Stomach	stomach
20	chr5:77945400-77946200	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:77945400-77946200	Enhancers	NHDF-Ad	bronchial
22	chr5:77945400-77946200	Enhancers	NHEK	skin
23	chr5:77945400-77946400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:77945400-77946600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:77945400-77946600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:77945400-77946600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:77945400-77946600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:77945400-77946600	Enhancers	Stomach Mucosa	stomach
29	chr5:77945400-77946600	Enhancers	A549	lung
30	chr5:77945400-77946600	Enhancers	GM12878-XiMat	blood
31	chr5:77945400-77946600	Enhancers	HMEC	breast
32	chr5:77945400-77946600	Enhancers	HSMM	muscle
33	chr5:77945400-77946600	Enhancers	NHLF	lung
34	chr5:77945400-77946600	Enhancers	Osteobl	bone
35	chr5:77945400-77946800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:77945400-77946800	Enhancers	HSMMtube	muscle
37	chr5:77945400-77949000	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:77945400-77949400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:77945400-77949400	Weak transcription	HUVEC	blood vessel
40	chr5:77945400-77949600	Weak transcription	Adipose Nuclei	Adipose
41	chr5:77945600-77946000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr5:77945600-77946000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:77945600-77946000	Enhancers	Fetal Brain Male	brain
44	chr5:77945600-77946000	Enhancers	Placenta	Placenta
45	chr5:77945600-77946000	Enhancers	Pancreas	Pancrea
46	chr5:77945600-77946200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:77945600-77946200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr5:77945600-77946200	Enhancers	Ovary	ovary
49	chr5:77945600-77946200	Flanking Active TSS	HepG2	liver
50	chr5:77945600-77946600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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