Variant report

Variant	rs72673463
Chromosome Location	chr14:35006915-35006916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr14:35006465-35007047	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr14:35006654-35007033	HepG2	liver:	n/a	n/a
3	GATA3	chr14:35006529-35007069	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr14:35006535-35007135	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr14:35006644-35006953	H1-hESC	embryonic stem cell:	n/a	n/a
6	PBX3	chr14:35006483-35006934	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr14:35006436-35006949	SK-N-SH	brain:	n/a	n/a
8	WRNIP1	chr14:35006747-35006947	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35005104..35007114-chr14:35007414..35009874,3	K562	blood:
2	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
3	chr14:35005506..35011243-chr14:35020994..35025666,12	MCF-7	breast:
4	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
5	chr14:35005764..35008884-chr14:35021719..35025749,6	K562	blood:
6	chr14:34992410..34994552-chr14:35006648..35008744,2	MCF-7	breast:
7	chr14:35003178..35006952-chr14:35007318..35009026,4	MCF-7	breast:
8	chr14:34931690..34933656-chr14:35005412..35007221,2	K562	blood:
9	chr14:34929666..34933656-chr14:35005721..35010391,9	K562	blood:
10	chr14:34990714..34993643-chr14:35006292..35008810,2	K562	blood:

No data

Variant related genes	Relation type
EAPP	TF binding region
ENSG00000206588	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000206596	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000165389	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs58909728	0.87[EUR][1000 genomes]
rs60183626	1.00[EUR][1000 genomes]
rs67163867	1.00[EUR][1000 genomes]
rs72673450	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72673460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673462	0.91[EUR][1000 genomes]
rs72673478	1.00[EUR][1000 genomes]
rs72675213	0.87[EUR][1000 genomes]
rs72675222	0.87[EUR][1000 genomes]
rs72675225	0.87[EUR][1000 genomes]
rs72675227	0.87[EUR][1000 genomes]
rs72675230	0.82[EUR][1000 genomes]
rs72675232	0.82[EUR][1000 genomes]
rs72675239	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
12	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34985200-35007000	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:34986600-35008400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:34987200-35007000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr14:34987200-35007000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr14:34988000-35008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:34989200-35008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:34992200-35008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:34998000-35007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:34998000-35007800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:35000400-35007800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:35002200-35007800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:35002200-35008400	Weak transcription	Lung	lung
13	chr14:35002600-35007200	Weak transcription	Ovary	ovary
14	chr14:35002800-35007800	Weak transcription	Spleen	Spleen
15	chr14:35003000-35007200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:35003000-35007800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:35003200-35007800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:35003600-35008000	Weak transcription	Esophagus	oesophagus
19	chr14:35003800-35007800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:35004000-35007800	Weak transcription	Brain Anterior Caudate	brain
21	chr14:35005000-35007000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:35005200-35007000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:35005400-35007800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:35005400-35007800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:35005400-35008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:35005600-35007600	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr14:35005800-35007000	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr14:35005800-35007000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:35005800-35007000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:35005800-35007400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr14:35005800-35007600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr14:35005800-35007800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:35006000-35007000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:35006000-35007000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:35006200-35007200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr14:35006200-35007400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:35006200-35007800	Enhancers	Pancreas	Pancrea
38	chr14:35006400-35007000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:35006400-35007200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr14:35006400-35007200	Enhancers	Fetal Intestine Small	intestine
41	chr14:35006400-35007200	Genic enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:35006400-35007400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:35006400-35007400	Genic enhancers	HSMM	muscle
44	chr14:35006400-35007600	Enhancers	HSMMtube	muscle
45	chr14:35006400-35007800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:35006400-35008000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:35006400-35008400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:35006600-35007000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:35006600-35007000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:35006600-35007000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links