Variant report

Variant	rs545517736
Chromosome Location	chr14:71276286-71276287
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	CREB1	chr14:71275916-71276769	H1-hESC	embryonic stem cell:	n/a	n/a
2	PAX5	chr14:71275766-71276636	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:71275963-71276297	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:71274832-71276927	GM19193	blood:	n/a	n/a
5	E2F6	chr14:71276268-71276654	K562	blood:	n/a	chr14:71276516-71276528
6	CREB1	chr14:71275985-71276783	H1-hESC	embryonic stem cell:	n/a	n/a
7	HCFC1	chr14:71274546-71277238	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr14:71275954-71276751	Hela-S3	cervix:	n/a	n/a
9	YY1	chr14:71275990-71276636	GM12892	blood:	n/a	chr14:71276242-71276251 chr14:71276139-71276153
10	ZBTB7A	chr14:71275229-71276892	ECC-1	luminal epithelium:	n/a	n/a
11	TAF1	chr14:71276028-71276818	HepG2	liver:	n/a	n/a
12	USF1	chr14:71276074-71276667	ECC-1	luminal epithelium:	n/a	chr14:71276195-71276211 chr14:71276135-71276151 chr14:71276187-71276203 chr14:71276271-71276282
13	USF1	chr14:71276123-71276489	SK-N-SH_RA	brain:	n/a	chr14:71276195-71276211 chr14:71276135-71276151 chr14:71276187-71276203 chr14:71276271-71276282
14	CREB1	chr14:71276038-71276968	HepG2	liver:	n/a	n/a
15	EBF1	chr14:71276141-71276572	GM12878	blood:	n/a	n/a
16	USF1	chr14:71276181-71276480	H1-hESC	embryonic stem cell:	n/a	chr14:71276195-71276211 chr14:71276187-71276203 chr14:71276271-71276282
17	POLR2A	chr14:71275164-71276921	MCF-7	breast:	n/a	n/a
18	MAX	chr14:71276098-71276783	HepG2	liver:	n/a	n/a
19	NR2F2	chr14:71274809-71277026	MCF-7	breast:	n/a	n/a
20	MAZ	chr14:71276044-71276733	GM12878	blood:	n/a	n/a
21	TCF7L2	chr14:71275604-71277241	HCT-116	colon:	n/a	chr14:71276893-71276902 chr14:71276890-71276904 chr14:71276890-71276904
22	ELF1	chr14:71276011-71276945	GM12878	blood:	n/a	chr14:71276188-71276200 chr14:71276242-71276254
23	MYC	chr14:71276284-71276665	K562	blood:	n/a	n/a
24	TAF1	chr14:71275876-71276971	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr14:71275923-71276906	HepG2	liver:	n/a	chr14:71276868-71276877
26	POLR2A	chr14:71276058-71276307	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:71275856-71276947	GM12892	blood:	n/a	n/a
28	FOXP2	chr14:71276085-71276598	PFSK-1	brain:	n/a	n/a
29	MYC	chr14:71276238-71276299	HepG2	liver:	n/a	n/a
30	UBTF	chr14:71275745-71276554	K562	blood:	n/a	n/a
31	SIN3AK20	chr14:71274569-71277236	MCF-7	breast:	n/a	n/a
32	ELF1	chr14:71276228-71277178	MCF-7	breast:	n/a	chr14:71276242-71276254
33	SP2	chr14:71276280-71276658	H1-hESC	embryonic stem cell:	n/a	chr14:71276360-71276370 chr14:71276546-71276556 chr14:71276517-71276532
34	GABPA	chr14:71276194-71277058	SK-N-SH	brain:	n/a	chr14:71276242-71276251
35	POLR2A	chr14:71275933-71276820	A549	lung:	n/a	n/a
36	USF1	chr14:71276136-71276477	A549	lung:	n/a	chr14:71276195-71276211 chr14:71276187-71276203 chr14:71276271-71276282
37	SP1	chr14:71276059-71276975	A549	lung:	n/a	chr14:71276241-71276250 chr14:71276241-71276251 chr14:71276240-71276252 chr14:71276241-71276250 chr14:71276242-71276251 chr14:71276240-71276252 chr14:71276870-71276880 chr14:71276241-71276255 chr14:71276291-71276300 chr14:71276241-71276251
38	CTCF	chr14:71276245-71276301	Spleen_OC	spleen:	n/a	n/a
39	TCF12	chr14:71275840-71276846	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr14:71274910-71277014	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr14:71276168-71276298	MCF-7	breast:	n/a	n/a
42	SPI1	chr14:71276253-71276519	GM12891	blood:	n/a	n/a
43	PBX3	chr14:71276260-71276757	GM12878	blood:	n/a	chr14:71276552-71276572 chr14:71276361-71276370
44	MYC	chr14:71276038-71276592	MCF-7	breast:	n/a	n/a
45	PBX3	chr14:71276207-71276744	A549	lung:	n/a	chr14:71276552-71276572 chr14:71276361-71276370
46	MAX	chr14:71276035-71277046	A549	lung:	n/a	chr14:71276868-71276877
47	POLR2A	chr14:71275879-71276899	ECC-1	luminal epithelium:	n/a	n/a
48	SP1	chr14:71276209-71276839	HepG2	liver:	n/a	chr14:71276241-71276250 chr14:71276241-71276251 chr14:71276240-71276252 chr14:71276241-71276250 chr14:71276242-71276251 chr14:71276240-71276252 chr14:71276241-71276255 chr14:71276291-71276300 chr14:71276241-71276251
49	MAX	chr14:71276092-71276769	GM12878	blood:	n/a	n/a
50	POLR2A	chr14:71275548-71276899	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
2	chr14:71076190..71078982-chr14:71275139..71277878,2	MCF-7	breast:
3	chr12:53399239..53400858-chr14:71275577..71277135,2	MCF-7	breast:
4	chr14:71108262..71108946-chr14:71275849..71276515,2	MCF-7	breast:
5	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
6	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:

Variant related genes	Relation type
MAP3K9	TF binding region
ENSG00000259153	TF binding region
ENSG00000006432	Chromatin interaction
ENSG00000240837	Chromatin interaction
ENSG00000245466	Chromatin interaction
ENSG00000063046	Chromatin interaction
ENSG00000133985	Chromatin interaction
ENSG00000259115	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv3375447	chr14:71274499-71276497	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3376635	chr14:71275024-71277572	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:71274200-71279400	Active TSS	HMEC	breast
4	chr14:71274400-71276800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr14:71274400-71277600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:71274400-71277800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:71274400-71277800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:71274400-71278200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:71274600-71277200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr14:71274600-71277200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:71274600-71277200	Active TSS	Psoas Muscle	Psoas
12	chr14:71274600-71277600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr14:71274600-71277600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:71274600-71277800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:71274600-71277800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:71274600-71279400	Active TSS	Esophagus	oesophagus
17	chr14:71274800-71276400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:71274800-71276800	Active TSS	Brain Angular Gyrus	brain
19	chr14:71274800-71277000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
20	chr14:71274800-71277400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:71274800-71277400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:71274800-71277400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr14:71274800-71277600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:71274800-71277600	Active TSS	Brain Anterior Caudate	brain
25	chr14:71274800-71277800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:71274800-71277800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:71274800-71278200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr14:71274800-71278600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr14:71274800-71279400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:71275000-71276400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
31	chr14:71275000-71276600	Active TSS	Primary T cells from cord blood	blood
32	chr14:71275000-71276600	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr14:71275000-71276600	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr14:71275000-71276600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr14:71275000-71276600	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr14:71275000-71276600	Bivalent/Poised TSS	Osteobl	bone
37	chr14:71275000-71276800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:71275000-71276800	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr14:71275000-71276800	Active TSS	Small Intestine	intestine
40	chr14:71275000-71276800	Active TSS	Hela-S3	cervix
41	chr14:71275000-71276800	Active TSS	HepG2	liver
42	chr14:71275000-71277000	Active TSS	Duodenum Mucosa	Duodenum
43	chr14:71275000-71277000	Active TSS	Stomach Smooth Muscle	stomach
44	chr14:71275000-71277200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:71275000-71277200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:71275000-71277200	Active TSS	Fetal Intestine Small	intestine
47	chr14:71275000-71277600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr14:71275000-71277600	Active TSS	NHEK	skin
49	chr14:71275000-71277800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr14:71275000-71277800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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