Variant report

Variant	rs72762908
Chromosome Location	chr5:77945435-77945436
allele	A/G
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	chr5:77945306-77945508	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:77943092-77946191	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:77943014-77945454	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:77943987-77945458	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr5:77945168-77945531	SK-N-SH_RA	brain:	n/a	chr5:77945178-77945190 chr5:77945410-77945420
6	MAZ	chr5:77943090-77946476	IMR90	lung:	n/a	chr5:77945550-77945560 chr5:77943471-77943481
7	CHD1	chr5:77942547-77945482	IMR90	lung:	n/a	n/a
8	RCOR1	chr5:77945280-77945480	K562	blood:	n/a	n/a
9	MXI1	chr5:77941735-77945542	SK-N-SH	brain:	n/a	chr5:77944256-77944265
10	POLR2A	chr5:77942112-77946377	IMR90	lung:	n/a	n/a
11	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
12	MTA3	chr5:77944666-77945542	GM12878	blood:	n/a	n/a
13	CTCF	chr5:77945300-77945450	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
2	chr5:77936618..77938171-chr5:77943031..77945738,2	K562	blood:
3	chr5:77945339..77947011-chr5:77970962..77972578,2	K562	blood:
4	chr5:77944860..77948164-chr5:77958771..77961486,4	MCF-7	breast:

Variant related genes	Relation type
HMGB1P21	TF binding region
LHFPL2	TF binding region
ENSG00000145685	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3439355	chr5:77943421-77945969	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	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
11	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
12	esv17068	chr5:77945123-77945900	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv820433	chr5:77945123-77945900	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77942200-77945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:77942200-77945800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:77942800-77945600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:77942800-77945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr5:77942800-77945800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:77943000-77945600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:77943000-77945800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:77943000-77945800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:77943000-77946000	Active TSS	Fetal Kidney	kidney
10	chr5:77943200-77945600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:77943200-77945600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:77943200-77945600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:77943200-77945600	Active TSS	HepG2	liver
14	chr5:77943200-77945800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr5:77943400-77945600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:77943400-77945800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:77943400-77945800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:77943600-77945600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr5:77943800-77945600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:77944000-77946000	Active TSS	Stomach Smooth Muscle	stomach
21	chr5:77944800-77945600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:77945000-77946400	Enhancers	K562	blood
23	chr5:77945000-77949000	Weak transcription	Hela-S3	cervix
24	chr5:77945200-77945600	Weak transcription	Fetal Brain Male	brain
25	chr5:77945200-77945600	Flanking Active TSS	NH-A	brain
26	chr5:77945200-77945800	Bivalent Enhancer	Fetal Thymus	thymus
27	chr5:77945400-77945600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:77945400-77945600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:77945400-77945600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:77945400-77945600	Weak transcription	Ovary	ovary
31	chr5:77945400-77945800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:77945400-77945800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:77945400-77945800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:77945400-77945800	Enhancers	Aorta	Aorta
35	chr5:77945400-77945800	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:77945400-77945800	Enhancers	Left Ventricle	heart
37	chr5:77945400-77945800	Weak transcription	Right Atrium	heart
38	chr5:77945400-77945800	Enhancers	Right Ventricle	heart
39	chr5:77945400-77945800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr5:77945400-77945800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr5:77945400-77946000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:77945400-77946000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:77945400-77946000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:77945400-77946000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:77945400-77946000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:77945400-77946000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:77945400-77946000	Enhancers	Brain Hippocampus Middle	brain
48	chr5:77945400-77946000	Enhancers	Fetal Intestine Large	intestine
49	chr5:77945400-77946000	Enhancers	Fetal Intestine Small	intestine
50	chr5:77945400-77946000	Enhancers	Fetal Muscle Trunk	muscle

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