Variant report

Variant	rs553472771
Chromosome Location	chr5:114881185-114881186
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	JUN	chr5:114879459-114881315	K562	blood:	n/a	chr5:114880671-114880680
2	CBX3	chr5:114880152-114881427	K562	blood:	n/a	n/a
3	MAX	chr5:114879547-114881292	A549	lung:	n/a	n/a
4	USF2	chr5:114880744-114881217	Hela-S3	cervix:	n/a	n/a
5	MAZ	chr5:114879384-114881373	IMR90	lung:	n/a	n/a
6	WRNIP1	chr5:114880797-114881271	GM12878	blood:	n/a	n/a
7	GATA3	chr5:114880042-114881214	A549	lung:	n/a	n/a
8	MAX	chr5:114879906-114881201	ECC-1	luminal epithelium:	n/a	n/a
9	GTF2F1	chr5:114881125-114881284	K562	blood:	n/a	n/a
10	CBX3	chr5:114880149-114881471	HCT-116	colon:	n/a	n/a
11	HEY1	chr5:114880115-114881192	HepG2	liver:	n/a	chr5:114880672-114880687 chr5:114880301-114880316
12	POLR2A	chr5:114879324-114881486	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:114879466-114881269	Hela-S3	cervix:	n/a	n/a
14	MAX	chr5:114879919-114881244	MCF-7	breast:	n/a	n/a
15	MAX	chr5:114879890-114881336	HCT-116	colon:	n/a	n/a
16	KAP1	chr5:114880730-114881460	K562	blood:	n/a	n/a
17	RCOR1	chr5:114879568-114881373	K562	blood:	n/a	n/a
18	SETDB1	chr5:114880630-114881579	U2OS	brain:	n/a	n/a
19	CBX3	chr5:114880652-114881290	K562	blood:	n/a	n/a
20	POLR2A	chr5:114879525-114881329	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr5:114881032-114881565	H1-hESC	embryonic stem cell:	n/a	n/a
22	TRIM28	chr5:114880689-114881243	K562	blood:	n/a	n/a
23	USF1	chr5:114880747-114881244	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr5:114879959-114881231	A549	lung:	n/a	n/a
25	MYC	chr5:114879602-114881199	K562	blood:	n/a	n/a
26	IRF1	chr5:114880211-114881552	K562	blood:	n/a	chr5:114881275-114881292 chr5:114881278-114881288 chr5:114881276-114881289 chr5:114880671-114880685 chr5:114881276-114881289 chr5:114880386-114880400 chr5:114881274-114881288
27	KAP1	chr5:114880710-114881331	HEK293	kidney:	n/a	n/a
28	ZNF143	chr5:114880131-114881379	H1-hESC	embryonic stem cell:	n/a	chr5:114880230-114880248 chr5:114880301-114880311
29	POLR2A	chr5:114879332-114881480	MCF10A-Er-Src	breast:	n/a	n/a
30	SETDB1	chr5:114880757-114881445	K562	blood:	n/a	n/a
31	MXI1	chr5:114877016-114881278	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr5:114878497-114881357	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:114880083-114881225	PFSK-1	brain:	n/a	n/a
34	MAX	chr5:114879860-114881349	HCT-116	colon:	n/a	n/a
35	MXI1	chr5:114879511-114881477	IMR90	lung:	n/a	n/a
36	TCF12	chr5:114879939-114881381	A549	lung:	n/a	n/a
37	MAX	chr5:114879963-114881204	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr5:114879968-114881249	ECC-1	luminal epithelium:	n/a	n/a
39	TCF12	chr5:114880142-114881321	ECC-1	luminal epithelium:	n/a	n/a
40	BRCA1	chr5:114880799-114881202	Hela-S3	cervix:	n/a	n/a
41	MYC	chr5:114880058-114881206	A549	lung:	n/a	n/a
42	HCFC1	chr5:114879032-114881326	Hela-S3	cervix:	n/a	n/a
43	E2F6	chr5:114879940-114881272	H1-hESC	embryonic stem cell:	n/a	chr5:114880145-114880157 chr5:114880672-114880681 chr5:114880240-114880250 chr5:114880239-114880248 chr5:114880410-114880421 chr5:114880203-114880213
44	ZC3H11A	chr5:114880794-114881213	K562	blood:	n/a	n/a
45	MAX	chr5:114880051-114881222	HepG2	liver:	n/a	n/a
46	GTF2F1	chr5:114880286-114881187	Hela-S3	cervix:	n/a	n/a
47	MTA3	chr5:114880712-114881259	GM12878	blood:	n/a	n/a
48	JUN	chr5:114880810-114881199	K562	blood:	n/a	n/a
49	POLR2A	chr5:114879953-114881256	HCT-116	colon:	n/a	n/a
50	POLR2A	chr5:114880140-114881392	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114880215..114881730-chr5:114959993..114961960,2	K562	blood:

Variant related genes	Relation type
FEM1C	TF binding region
ENSG00000243414	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000251201	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114874200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:114875600-114881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:114876600-114881200	Active TSS	HSMMtube	muscle
4	chr5:114877200-114881200	Active TSS	Colonic Mucosa	Colon
5	chr5:114877400-114881400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr5:114877600-114881200	Active TSS	HSMM	muscle
7	chr5:114879000-114881200	Active TSS	A549	lung
8	chr5:114879000-114881400	Active TSS	Fetal Heart	heart
9	chr5:114879200-114881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:114879200-114881200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:114879200-114881200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:114879200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:114879200-114881200	Active TSS	Liver	Liver
14	chr5:114879200-114881200	Active TSS	Rectal Smooth Muscle	rectum
15	chr5:114879200-114881400	Active TSS	Brain Angular Gyrus	brain
16	chr5:114879400-114881200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:114879400-114881200	Active TSS	Thymus	Thymus
18	chr5:114879400-114881200	Active TSS	Hela-S3	cervix
19	chr5:114879400-114881200	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:114880400-114881200	Active TSS	Brain Germinal Matrix	brain
21	chr5:114880600-114881200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr5:114880600-114881200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:114880600-114881200	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr5:114880800-114881200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr5:114880800-114881200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:114880800-114881200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr5:114880800-114881200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:114880800-114881200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:114880800-114881200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr5:114880800-114881200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr5:114880800-114881200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
32	chr5:114880800-114881200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr5:114880800-114881200	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr5:114880800-114881200	ZNF genes & repeats	Fetal Kidney	kidney
35	chr5:114880800-114881200	ZNF genes & repeats	Fetal Thymus	thymus
36	chr5:114880800-114881200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:114880800-114881200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:114880800-114881200	Enhancers	Spleen	Spleen
39	chr5:114880800-114881200	Flanking Active TSS	HepG2	liver
40	chr5:114880800-114881200	ZNF genes & repeats	NH-A	brain
41	chr5:114880800-114881400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr5:114880800-114881400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr5:114880800-114881400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:114880800-114881400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:114880800-114881400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr5:114880800-114881400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr5:114880800-114881400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:114880800-114881400	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr5:114880800-114881400	ZNF genes & repeats	Fetal Lung	lung
50	chr5:114880800-114881600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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