Variant report

Variant	rs541520237
Chromosome Location	chr5:114880653-114880654
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	E2F6	chr5:114880609-114881040	A549	lung:	n/a	chr5:114880672-114880681
2	EP300	chr5:114880216-114880710	SK-N-SH_RA	brain:	n/a	chr5:114880237-114880253
3	MYC	chr5:114880217-114880758	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:114879513-114880835	GM12892	blood:	n/a	n/a
5	MYBL2	chr5:114880118-114880896	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:114880179-114880756	A549	lung:	n/a	n/a
7	TCF7L2	chr5:114880106-114881070	Hela-S3	cervix:	n/a	chr5:114880276-114880285 chr5:114880277-114880284
8	POLR2A	chr5:114880153-114881034	SK-N-MC	brain:	n/a	n/a
9	SP1	chr5:114880190-114880861	GM12878	blood:	n/a	chr5:114880672-114880682 chr5:114880672-114880682 chr5:114880671-114880683 chr5:114880668-114880682 chr5:114880672-114880681 chr5:114880673-114880682 chr5:114880389-114880399 chr5:114880673-114880682 chr5:114880671-114880683
10	JUN	chr5:114879459-114881315	K562	blood:	n/a	chr5:114880671-114880680
11	CBX3	chr5:114880152-114881427	K562	blood:	n/a	n/a
12	PML	chr5:114880135-114880686	MCF-7	breast:	n/a	n/a
13	MAX	chr5:114879547-114881292	A549	lung:	n/a	n/a
14	POLR2A	chr5:114879988-114880963	MCF-7	breast:	n/a	n/a
15	CREB1	chr5:114880183-114880819	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr5:114879958-114880716	GM12892	blood:	n/a	chr5:114880303-114880317 chr5:114880239-114880250 chr5:114880199-114880210 chr5:114880672-114880681 chr5:114880200-114880214 chr5:114880239-114880248
17	POLR2A	chr5:114878580-114881082	HepG2	liver:	n/a	n/a
18	PAX5	chr5:114880051-114880869	GM12892	blood:	n/a	n/a
19	HMGN3	chr5:114880007-114880701	K562	blood:	n/a	n/a
20	MTA3	chr5:114879303-114880674	GM12878	blood:	n/a	n/a
21	MAZ	chr5:114879384-114881373	IMR90	lung:	n/a	n/a
22	GTF2B	chr5:114880270-114880740	K562	blood:	n/a	n/a
23	MAZ	chr5:114880014-114881057	HepG2	liver:	n/a	n/a
24	PAX5	chr5:114880219-114881095	GM12878	blood:	n/a	n/a
25	TAF1	chr5:114880054-114880767	MCF-7	breast:	n/a	n/a
26	ETS1	chr5:114880182-114880889	A549	lung:	n/a	chr5:114880299-114880310 chr5:114880239-114880250
27	POLR2A	chr5:114879677-114880836	GM10847	blood:	n/a	n/a
28	TEAD4	chr5:114880291-114880882	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr5:114879523-114881139	Hela-S3	cervix:	n/a	n/a
30	RFX5	chr5:114880031-114881014	Hela-S3	cervix:	n/a	n/a
31	ATF2	chr5:114880599-114881056	GM12878	blood:	n/a	n/a
32	HCFC1	chr5:114880218-114881167	K562	blood:	n/a	n/a
33	HEY1	chr5:114880640-114880844	HepG2	liver:	n/a	chr5:114880672-114880687
34	BHLHE40	chr5:114880186-114880984	K562	blood:	n/a	chr5:114880428-114880444 chr5:114880193-114880209
35	GATA3	chr5:114880042-114881214	A549	lung:	n/a	n/a
36	POLR2A	chr5:114879624-114880971	GM12878	blood:	n/a	n/a
37	MAX	chr5:114879906-114881201	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr5:114880604-114880831	HepG2	liver:	n/a	n/a
39	BHLHE40	chr5:114880154-114881143	GM12878	blood:	n/a	chr5:114880428-114880444 chr5:114880193-114880209
40	PBX3	chr5:114880168-114880771	SK-N-SH	brain:	n/a	chr5:114880197-114880217
41	CHD1	chr5:114877793-114880907	IMR90	lung:	n/a	chr5:114880673-114880683 chr5:114880351-114880361 chr5:114880127-114880137
42	MYC	chr5:114880054-114880818	MCF-7	breast:	n/a	n/a
43	CBX3	chr5:114880149-114881471	HCT-116	colon:	n/a	n/a
44	SMARCB1	chr5:114879567-114880780	Hela-S3	cervix:	n/a	n/a
45	TCF12	chr5:114880251-114880883	HepG2	liver:	n/a	n/a
46	HEY1	chr5:114880115-114881192	HepG2	liver:	n/a	chr5:114880672-114880687 chr5:114880301-114880316
47	POLR2A	chr5:114879324-114881486	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr5:114879648-114880939	K562	blood:	n/a	n/a
49	POLR2A	chr5:114879466-114881269	Hela-S3	cervix:	n/a	n/a
50	EGR1	chr5:114880596-114880856	K562	blood:	n/a	chr5:114880685-114880698 chr5:114880685-114880698 chr5:114880672-114880682 chr5:114880684-114880699 chr5:114880686-114880700 chr5:114880671-114880681

No.	Distal block	Cell Line	Cell type
1	chr5:114880215..114881730-chr5:114959993..114961960,2	K562	blood:
2	chr5:114879958..114880695-chr6:13574785..13575475,2	Hela-S3	cervix:
3	chr5:114878345..114880939-chr5:115175674..115177985,2	K562	blood:
4	chr17:46048149..46048819-chr5:114879946..114880664,2	NB4	blood:

Variant related genes	Relation type
FEM1C	TF binding region
ENSG00000124523	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000134970	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3428371	chr5:114880442-114882878	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114874200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:114875600-114881000	Active TSS	Fetal Brain Female	brain
3	chr5:114875600-114881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:114876200-114881000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:114876200-114881000	Active TSS	HMEC	breast
6	chr5:114876600-114880800	Active TSS	Fetal Intestine Small	intestine
7	chr5:114876600-114881200	Active TSS	HSMMtube	muscle
8	chr5:114877200-114881200	Active TSS	Colonic Mucosa	Colon
9	chr5:114877400-114881000	Active TSS	Colon Smooth Muscle	Colon
10	chr5:114877400-114881400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr5:114877600-114881200	Active TSS	HSMM	muscle
12	chr5:114878000-114881000	Active TSS	Stomach Mucosa	stomach
13	chr5:114878600-114881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:114878600-114881000	Active TSS	Pancreas	Pancrea
15	chr5:114878800-114881000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:114878800-114881000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:114879000-114880800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr5:114879000-114880800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:114879000-114880800	Active TSS	Fetal Kidney	kidney
20	chr5:114879000-114881000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:114879000-114881000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:114879000-114881000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:114879000-114881000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:114879000-114881000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr5:114879000-114881000	Active TSS	Psoas Muscle	Psoas
26	chr5:114879000-114881200	Active TSS	A549	lung
27	chr5:114879000-114881400	Active TSS	Fetal Heart	heart
28	chr5:114879200-114880800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:114879200-114880800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:114879200-114880800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr5:114879200-114880800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr5:114879200-114880800	Active TSS	Aorta	Aorta
33	chr5:114879200-114880800	Active TSS	Brain Cingulate Gyrus	brain
34	chr5:114879200-114880800	Active TSS	Fetal Muscle Trunk	muscle
35	chr5:114879200-114880800	Active TSS	Fetal Stomach	stomach
36	chr5:114879200-114880800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:114879200-114880800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr5:114879200-114880800	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr5:114879200-114880800	Active TSS	Small Intestine	intestine
40	chr5:114879200-114881000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr5:114879200-114881000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:114879200-114881000	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr5:114879200-114881000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:114879200-114881000	Active TSS	Left Ventricle	heart
45	chr5:114879200-114881000	Active TSS	Ovary	ovary
46	chr5:114879200-114881000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr5:114879200-114881000	Active TSS	Right Ventricle	heart
48	chr5:114879200-114881000	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr5:114879200-114881000	Active TSS	Stomach Smooth Muscle	stomach
50	chr5:114879200-114881000	Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links