Variant report

Variant	rs534753758
Chromosome Location	chr14:71274914-71274915
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	POLR2A	chr14:71274832-71276927	GM19193	blood:	n/a	n/a
2	TCF7L2	chr14:71274817-71275199	PANC-1	pancreas:	n/a	n/a
3	HCFC1	chr14:71274546-71277238	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr14:71274837-71275125	MCF-7	breast:	n/a	n/a
5	MAX	chr14:71274701-71275281	H1-hESC	embryonic stem cell:	n/a	chr14:71275152-71275162
6	MAX	chr14:71274740-71275874	A549	lung:	n/a	chr14:71275152-71275162
7	NR2F2	chr14:71274809-71277026	MCF-7	breast:	n/a	n/a
8	MXI1	chr14:71274699-71275115	GM12878	blood:	n/a	n/a
9	MAX	chr14:71274834-71275336	Hela-S3	cervix:	n/a	chr14:71275152-71275162
10	POLR2A	chr14:71274854-71275157	GM12878	blood:	n/a	n/a
11	SIN3AK20	chr14:71274569-71277236	MCF-7	breast:	n/a	n/a
12	CHD1	chr14:71274682-71275300	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr14:71274849-71275346	GM12892	blood:	n/a	chr14:71275151-71275160 chr14:71275149-71275160 chr14:71275148-71275157 chr14:71275154-71275163 chr14:71275152-71275163
14	POLR2A	chr14:71274910-71277014	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:71274869-71275774	MCF-7	breast:	n/a	n/a
16	YY1	chr14:71274792-71275201	H1-hESC	embryonic stem cell:	n/a	chr14:71275151-71275160 chr14:71275149-71275160 chr14:71275148-71275157 chr14:71275154-71275163 chr14:71275152-71275163
17	TAF1	chr14:71274863-71275417	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT3	chr14:71274892-71275123	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr14:71274738-71275408	ECC-1	luminal epithelium:	n/a	chr14:71275152-71275162
20	ELF1	chr14:71274772-71275152	HepG2	liver:	n/a	chr14:71274970-71274979 chr14:71275129-71275140
21	TCF12	chr14:71274679-71275466	A549	lung:	n/a	n/a
22	MAZ	chr14:71274877-71275211	Hela-S3	cervix:	n/a	chr14:71275152-71275162
23	YY1	chr14:71274868-71275367	H1-hESC	embryonic stem cell:	n/a	chr14:71275151-71275160 chr14:71275149-71275160 chr14:71275148-71275157 chr14:71275154-71275163 chr14:71275152-71275163
24	POLR2A	chr14:71274892-71277157	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr14:71274641-71275231	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr14:71274834-71276913	GM18951	blood:	n/a	n/a
27	YY1	chr14:71274821-71275205	GM12878	blood:	n/a	chr14:71275151-71275160 chr14:71275149-71275160 chr14:71275148-71275157 chr14:71275154-71275163 chr14:71275152-71275163
28	USF2	chr14:71274850-71275221	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:71274693-71275214	GM12892	blood:	n/a	n/a
30	STAT3	chr14:71274912-71274990	MCF10A-Er-Src	breast:	n/a	n/a
31	RCOR1	chr14:71274784-71275826	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr14:71274866-71275163	GM12878	blood:	n/a	n/a
33	YY1	chr14:71274790-71275098	GM12891	blood:	n/a	n/a
34	ELF1	chr14:71274753-71275037	HepG2	liver:	n/a	chr14:71274970-71274979
35	YY1	chr14:71274880-71275269	GM12892	blood:	n/a	chr14:71275151-71275160 chr14:71275149-71275160 chr14:71275148-71275157 chr14:71275154-71275163 chr14:71275152-71275163
36	POLR2A	chr14:71274791-71275089	GM12891	blood:	n/a	n/a
37	EBF1	chr14:71274668-71274938	GM12878	blood:	n/a	chr14:71274780-71274791
38	POLR2A	chr14:71274783-71276900	GM12892	blood:	n/a	n/a
39	MAX	chr14:71274553-71277076	MCF-7	breast:	n/a	chr14:71276868-71276877 chr14:71275152-71275162
40	MAX	chr14:71274681-71277091	A549	lung:	n/a	chr14:71276868-71276877 chr14:71275152-71275162
41	MXI1	chr14:71274775-71275166	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr14:71274909-71275652	GM12878	blood:	n/a	chr14:71275152-71275162
43	HDAC2	chr14:71274522-71277115	MCF-7	breast:	n/a	chr14:71274540-71274554 chr14:71274699-71274713 chr14:71276765-71276784 chr14:71274698-71274712
44	MYC	chr14:71274839-71275102	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr14:71274819-71275299	HCT-116	colon:	n/a	n/a
46	POLR2A	chr14:71274793-71275425	HCT-116	colon:	n/a	n/a
47	SMC3	chr14:71274895-71275268	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr14:71274747-71275144	Hela-S3	cervix:	n/a	n/a
49	RUNX3	chr14:71274842-71275232	GM12878	blood:	n/a	n/a
50	ELF1	chr14:71274755-71275207	GM12878	blood:	n/a	chr14:71274970-71274979 chr14:71275129-71275140

No.	Distal block	Cell Line	Cell type
1	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
2	chr14:71273334..71275325-chr14:71487514..71489742,2	MCF-7	breast:
3	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
4	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259153	TF binding region
ENSG00000259115	Chromatin interaction
ENSG00000245466	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000133985	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71268800-71275000	Weak transcription	Gastric	stomach
2	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:71274200-71275000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:71274200-71279400	Active TSS	HMEC	breast
6	chr14:71274400-71275000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:71274400-71275000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr14:71274400-71275000	Flanking Active TSS	NHEK	skin
9	chr14:71274400-71275200	Flanking Active TSS	GM12878-XiMat	blood
10	chr14:71274400-71276800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr14:71274400-71277600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:71274400-71277800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr14:71274400-71277800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:71274400-71278200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:71274600-71275000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:71274600-71275000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:71274600-71275000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr14:71274600-71275000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr14:71274600-71275000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr14:71274600-71275000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr14:71274600-71275000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:71274600-71275000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr14:71274600-71275000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:71274600-71275000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:71274600-71275000	Enhancers	Liver	Liver
26	chr14:71274600-71275000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:71274600-71275000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr14:71274600-71275000	Flanking Active TSS	Fetal Brain Female	brain
29	chr14:71274600-71275000	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr14:71274600-71275000	Bivalent Enhancer	Fetal Thymus	thymus
31	chr14:71274600-71275000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr14:71274600-71275000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr14:71274600-71275000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
34	chr14:71274600-71275000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr14:71274600-71275000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr14:71274600-71275000	Flanking Active TSS	A549	lung
37	chr14:71274600-71275000	Flanking Active TSS	Hela-S3	cervix
38	chr14:71274600-71275000	Flanking Active TSS	HepG2	liver
39	chr14:71274600-71275200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr14:71274600-71275200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:71274600-71275200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:71274600-71275200	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr14:71274600-71275200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr14:71274600-71275200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr14:71274600-71275200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr14:71274600-71275200	Flanking Active TSS	Pancreas	Pancrea
47	chr14:71274600-71275200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr14:71274600-71275200	Flanking Bivalent TSS/Enh	Dnd41	blood
49	chr14:71274600-71275400	Enhancers	Spleen	Spleen
50	chr14:71274600-71275600	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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