Variant report

Variant	rs547781646
Chromosome Location	chr5:179061736-179061737
allele	C/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	CTCF	chr5:179061620-179061770	AG04449	skin:	n/a	n/a
2	FOSL2	chr5:179061003-179061897	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:179060896-179062279	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:179060974-179062087	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:179060992-179062179	GM12892	blood:	n/a	n/a
6	MYC	chr5:179061728-179061942	K562	blood:	n/a	n/a
7	GABPA	chr5:179061658-179061842	A549	lung:	n/a	n/a
8	POLR2A	chr5:179061673-179061807	K562	blood:	n/a	n/a
9	POLR2A	chr5:179060971-179062164	H1-hESC	embryonic stem cell:	n/a	n/a
10	NR3C1	chr5:179061248-179061788	A549	lung:	n/a	n/a
11	POU2F2	chr5:179061020-179062163	GM12891	blood:	n/a	n/a
12	POLR2A	chr5:179060998-179062153	HepG2	liver:	n/a	n/a
13	HEY1	chr5:179061198-179062005	K562	blood:	n/a	chr5:179061213-179061228 chr5:179061480-179061495
14	CTCF	chr5:179061369-179061929	GM12892	blood:	n/a	n/a
15	SPI1	chr5:179061551-179061969	GM12891	blood:	n/a	n/a
16	CTCF	chr5:179061324-179061814	Lung_OC	lung:	n/a	n/a
17	GABPA	chr5:179061650-179061864	HepG2	liver:	n/a	n/a
18	CTCF	chr5:179061259-179061793	K562	blood:	n/a	n/a
19	PAX5	chr5:179061080-179061945	GM12878	blood:	n/a	chr5:179061801-179061811 chr5:179061809-179061818
20	IRF4	chr5:179061279-179061826	GM12878	blood:	n/a	n/a
21	CTCF	chr5:179061680-179061830	SK-N-SH_RA	brain:	n/a	n/a
22	E2F6	chr5:179061684-179061813	K562	blood:	n/a	chr5:179061767-179061782
23	IRF4	chr5:179061136-179062077	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:179061027-179062129	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:179061056-179061832	Gliobla	brain:	n/a	n/a
26	CBX3	chr5:179061169-179062060	K562	blood:	n/a	n/a
27	TRIM28	chr5:179061174-179061990	K562	blood:	n/a	n/a
28	POLR2A	chr5:179061522-179062173	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:179061059-179061909	GM12878	blood:	n/a	n/a
30	NR2F2	chr5:179061001-179062129	K562	blood:	n/a	n/a
31	E2F6	chr5:179061689-179061809	K562	blood:	n/a	chr5:179061767-179061782
32	POLR2A	chr5:179060983-179061812	MCF-7	breast:	n/a	n/a
33	POLR2A	chr5:179061012-179061824	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr5:179061094-179061866	GM12892	blood:	n/a	n/a
35	CTCF	chr5:179061723-179061813	MCF-7	breast:	n/a	n/a
36	HEY1	chr5:179061148-179062048	K562	blood:	n/a	chr5:179061213-179061228 chr5:179061480-179061495
37	POLR2A	chr5:179061055-179061796	GM12878	blood:	n/a	n/a
38	RXRA	chr5:179061288-179061773	GM12878	blood:	n/a	n/a
39	SPI1	chr5:179061350-179061978	GM12878	blood:	n/a	n/a
40	CTCF	chr5:179061183-179061809	A549	lung:	n/a	n/a
41	FOXM1	chr5:179061218-179061797	GM12878	blood:	n/a	n/a
42	SPI1	chr5:179061568-179061985	K562	blood:	n/a	n/a
43	POLR2A	chr5:179061140-179062003	PFSK-1	brain:	n/a	n/a
44	SPI1	chr5:179061570-179061969	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:179061150-179062070	A549	lung:	n/a	n/a
46	SP1	chr5:179061030-179061849	A549	lung:	n/a	n/a
47	NR2F2	chr5:179061224-179061972	K562	blood:	n/a	n/a
48	CTCF	chr5:179061620-179061770	HPF	lung:	n/a	n/a
49	CBX3	chr5:179061364-179061876	K562	blood:	n/a	n/a
50	CTCF	chr5:179061620-179061770	AG04450	lung:	n/a	n/a

Variant related genes	Relation type
HNRNPH1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv1033352	chr5:179056475-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1022780	chr5:179061394-179086482	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv10785	chr5:179061617-179062568	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179059400-179062000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:179060600-179061800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:179060600-179061800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:179060600-179061800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr5:179060600-179061800	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr5:179060600-179061800	Active TSS	Thymus	Thymus
8	chr5:179060600-179062000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:179060600-179062000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:179060600-179062000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:179060600-179062000	Active TSS	HSMM	muscle
12	chr5:179060800-179061800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr5:179060800-179061800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:179060800-179061800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:179060800-179061800	Active TSS	Colonic Mucosa	Colon
16	chr5:179060800-179061800	Active TSS	Fetal Intestine Small	intestine
17	chr5:179060800-179061800	Active TSS	Ovary	ovary
18	chr5:179060800-179061800	Active TSS	Right Ventricle	heart
19	chr5:179060800-179061800	Active TSS	HepG2	liver
20	chr5:179060800-179062000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr5:179060800-179062000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:179060800-179062000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:179060800-179065200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:179061000-179061800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:179061000-179061800	Active TSS	Fetal Muscle Leg	muscle
26	chr5:179061000-179061800	Active TSS	Fetal Thymus	thymus
27	chr5:179061000-179061800	Active TSS	Psoas Muscle	Psoas
28	chr5:179061000-179061800	Active TSS	A549	lung
29	chr5:179061000-179064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:179061200-179061800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:179061200-179061800	Weak transcription	K562	blood
32	chr5:179061200-179061800	Active TSS	Osteobl	bone
33	chr5:179061200-179062000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:179061200-179062000	Active TSS	Adipose Nuclei	Adipose
35	chr5:179061200-179062800	Weak transcription	Right Atrium	heart
36	chr5:179061200-179064800	Weak transcription	NHEK	skin
37	chr5:179061200-179065800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:179061600-179061800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:179061600-179061800	Flanking Active TSS	Dnd41	blood

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