Variant report

Variant	rs78642142
Chromosome Location	chr5:80257055-80257056
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	MYBL2	chr5:80256502-80257316	HepG2	liver:	n/a	n/a
2	MAX	chr5:80255887-80257157	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
3	RAD21	chr5:80256576-80257278	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr5:80255829-80257311	HepG2	liver:	n/a	chr5:80256134-80256143
5	YY1	chr5:80256310-80257172	H1-hESC	embryonic stem cell:	n/a	chr5:80256387-80256396 chr5:80256543-80256554 chr5:80256378-80256392
6	ZNF263	chr5:80255355-80257413	HEK293-T-REx	kidney:	n/a	chr5:80256995-80257016
7	MAX	chr5:80255669-80257408	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
8	CTBP2	chr5:80255809-80257416	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr5:80255732-80257235	H1-hESC	embryonic stem cell:	n/a	chr5:80255952-80255963
10	E2F6	chr5:80256015-80257065	H1-hESC	embryonic stem cell:	n/a	chr5:80256194-80256204 chr5:80256848-80256862 chr5:80256405-80256414 chr5:80256074-80256084
11	TAF1	chr5:80255847-80257135	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:80255661-80257284	HepG2	liver:	n/a	n/a
13	CREB1	chr5:80255584-80257085	HepG2	liver:	n/a	n/a
14	RAD21	chr5:80256266-80257167	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:80255663-80257435	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
16	MAZ	chr5:80256925-80257254	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:80255440-80257187	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000251450	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3322696	chr5:80255021-80257569	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3330937	chr5:80255346-80257994	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3359411	chr5:80255421-80257969	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1822121	chr5:80255984-80257109	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80255400-80257400	Active TSS	Colon Smooth Muscle	Colon
2	chr5:80255600-80257200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:80255600-80257200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:80255600-80257400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:80255600-80257400	Bivalent/Poised TSS	Osteobl	bone
6	chr5:80255600-80258000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr5:80255600-80258000	Active TSS	Ovary	ovary
8	chr5:80255800-80257200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:80255800-80257400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr5:80255800-80257400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
11	chr5:80255800-80257600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:80255800-80258000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr5:80255800-80258000	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr5:80255800-80258000	Active TSS	Brain Anterior Caudate	brain
15	chr5:80255800-80258000	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr5:80255800-80258200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:80255800-80258200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr5:80255800-80258200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr5:80255800-80258200	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr5:80255800-80259000	Active TSS	NHLF	lung
21	chr5:80255800-80259600	Active TSS	Brain Substantia Nigra	brain
22	chr5:80255800-80261000	Active TSS	Right Atrium	heart
23	chr5:80255800-80261200	Active TSS	Brain Cingulate Gyrus	brain
24	chr5:80255800-80261600	Active TSS	Brain Angular Gyrus	brain
25	chr5:80256000-80257200	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr5:80256000-80257200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
27	chr5:80256000-80257400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr5:80256000-80257800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:80256000-80257800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:80256000-80257800	Bivalent/Poised TSS	NHDF-Ad	bronchial
31	chr5:80256000-80258000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:80256000-80258000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:80256000-80258000	Bivalent/Poised TSS	Left Ventricle	heart
34	chr5:80256000-80258000	Active TSS	Rectal Smooth Muscle	rectum
35	chr5:80256000-80258200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr5:80256000-80258400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr5:80256000-80258600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr5:80256000-80259200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr5:80256000-80261000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:80256000-80261400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:80256200-80257200	Bivalent/Poised TSS	Small Intestine	intestine
42	chr5:80256400-80257200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:80256400-80257200	Flanking Active TSS	Gastric	stomach
44	chr5:80256400-80257200	Flanking Active TSS	Lung	lung
45	chr5:80256400-80257200	Flanking Active TSS	Pancreas	Pancrea
46	chr5:80256400-80257200	Flanking Active TSS	Spleen	Spleen
47	chr5:80256400-80257400	Flanking Active TSS	Liver	Liver
48	chr5:80256400-80257400	Bivalent/Poised TSS	NHEK	skin
49	chr5:80256600-80257200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
50	chr5:80256600-80257200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links