Variant report

Variant	rs72488260
Chromosome Location	chr14:21342236-21342237
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	TBP	chr14:21341896-21342268	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF7	chr14:21341808-21342276	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr14:21341911-21342389	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr14:21341824-21342303	H1-hESC	embryonic stem cell:	n/a	chr14:21341954-21341968
5	E2F6	chr14:21341776-21342396	H1-hESC	embryonic stem cell:	n/a	chr14:21342114-21342121 chr14:21342114-21342121 chr14:21342113-21342122 chr14:21342113-21342125 chr14:21342114-21342121
6	POLR2A	chr14:21341827-21342516	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:21341857-21342260	HCT-116	colon:	n/a	n/a
8	TAF1	chr14:21341811-21342420	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr14:21341644-21342303	SK-N-SH	brain:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
10	GABPA	chr14:21341738-21342343	A549	lung:	n/a	n/a
11	MAX	chr14:21341866-21342243	A549	lung:	n/a	n/a
12	POLR2A	chr14:21341771-21342479	SK-N-MC	brain:	n/a	n/a
13	ZNF143	chr14:21341779-21342263	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr14:21341825-21342362	HCT-116	colon:	n/a	n/a
15	RAD21	chr14:21341694-21342275	H1-hESC	embryonic stem cell:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
16	GABPA	chr14:21341823-21342389	HL-60	blood:	n/a	n/a
17	RAD21	chr14:21341629-21342245	A549	lung:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
18	RUNX3	chr14:21341751-21342296	GM12878	blood:	n/a	n/a
19	MAX	chr14:21341736-21342365	A549	lung:	n/a	n/a
20	GABPA	chr14:21341804-21342304	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr14:21341638-21342340	HCT-116	colon:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
22	POLR2A	chr14:21341820-21342236	HL-60	blood:	n/a	n/a
23	CTCF	chr14:21342180-21342330	WI-38	lung:	n/a	chr14:21342181-21342194
24	GABPA	chr14:21341685-21342474	HL-60	blood:	n/a	n/a
25	RUNX3	chr14:21341772-21342295	GM12878	blood:	n/a	n/a
26	GABPA	chr14:21341842-21342236	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr14:21341376-21342369	A549	lung:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
28	HCFC1	chr14:21341893-21342246	K562	blood:	n/a	n/a
29	GABPA	chr14:21341741-21342344	MCF-7	breast:	n/a	n/a
30	ELF1	chr14:21341806-21342270	HepG2	liver:	n/a	n/a
31	CTCF	chr14:21341724-21342237	H1-hESC	embryonic stem cell:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
32	GABPA	chr14:21341736-21342374	MCF-7	breast:	n/a	n/a
33	GTF2F1	chr14:21341829-21342267	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr14:21341849-21342402	H1-hESC	embryonic stem cell:	n/a	chr14:21341954-21341968
35	CEBPB	chr14:21341785-21342305	A549	lung:	n/a	n/a
36	POLR2A	chr14:21341988-21342254	H1-hESC	embryonic stem cell:	n/a	n/a
37	BCLAF1	chr14:21341829-21342279	GM12878	blood:	n/a	chr14:21341956-21341969
38	ELF1	chr14:21341785-21342288	GM12878	blood:	n/a	n/a
39	STAT5A	chr14:21341786-21342266	GM12878	blood:	n/a	n/a
40	SP4	chr14:21341894-21342270	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr14:21341638-21342284	SK-N-SH	brain:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
42	CREB1	chr14:21341735-21342321	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr14:21341630-21342268	K562	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
44	CTCF	chr14:21342180-21342330	GM12875	blood:	n/a	chr14:21342181-21342194
45	SETDB1	chr14:21341792-21342267	U2OS	brain:	n/a	n/a
46	GABPA	chr14:21341823-21342262	SK-N-SH	brain:	n/a	n/a
47	MAX	chr14:21341795-21342302	H1-hESC	embryonic stem cell:	n/a	n/a
48	ELK4	chr14:21341972-21342305	HEK293	kidney:	n/a	n/a
49	RAD21	chr14:21341730-21342248	HCT-116	colon:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
50	GABPA	chr14:21341848-21342307	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21325580..21326139-chr14:21341851..21342353,2	MCF-7	breast:
2	chr14:21341929..21342586-chr14:21439203..21440051,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASE1-1	chr14:21341079-21342995	XLOC_010966

Variant related genes	Relation type
ENSG00000259130	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10142804	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622628	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28544189	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67328871	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144670	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73571897	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1044554	chr14:21334087-21456092	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1036728	chr14:21338459-21409969	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv470622	chr14:21338824-21469151	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv563847	chr14:21338824-21469151	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1045451	chr14:21340639-21402584	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv9121	chr14:21341903-21426649	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv983967	chr14:21341911-21433655	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv870262	chr14:21341929-21412012	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21341200-21342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:21341200-21342600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:21341200-21343200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:21341400-21342400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr14:21341400-21342400	Enhancers	Primary hematopoietic stem cells	blood
6	chr14:21341400-21342400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr14:21341400-21342400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:21341400-21342400	Enhancers	Brain Anterior Caudate	brain
9	chr14:21341400-21342600	Enhancers	Primary B cells from cord blood	blood
10	chr14:21341400-21342600	Enhancers	Spleen	Spleen
11	chr14:21341400-21342600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr14:21341600-21342400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:21341600-21342400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:21341600-21342400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr14:21341600-21342400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr14:21341600-21342400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:21341600-21342400	Enhancers	Liver	Liver
18	chr14:21341600-21342400	Active TSS	Brain Hippocampus Middle	brain
19	chr14:21341600-21342400	Bivalent Enhancer	HepG2	liver
20	chr14:21341600-21342600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:21341600-21342600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr14:21341800-21342400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:21341800-21342400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:21341800-21342400	Enhancers	Placenta	Placenta
25	chr14:21341800-21342400	Enhancers	Fetal Thymus	thymus
26	chr14:21341800-21342400	Enhancers	Ovary	ovary
27	chr14:21341800-21342400	Enhancers	Stomach Smooth Muscle	stomach
28	chr14:21341800-21342400	Active TSS	Osteobl	bone
29	chr14:21342000-21342400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:21342000-21342400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr14:21342000-21342400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:21342000-21342400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:21342000-21342400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:21342000-21342400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:21342000-21342400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:21342000-21342400	Active TSS	Colon Smooth Muscle	Colon
37	chr14:21342000-21342400	Active TSS	Pancreas	Pancrea
38	chr14:21342000-21342400	Active TSS	Right Atrium	heart
39	chr14:21342000-21342400	Flanking Active TSS	GM12878-XiMat	blood
40	chr14:21342000-21342400	Flanking Active TSS	HUVEC	blood vessel
41	chr14:21342000-21342400	Active TSS	NHEK	skin
42	chr14:21342000-21342600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr14:21342000-21342600	Enhancers	Brain Substantia Nigra	brain
44	chr14:21342200-21342400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr14:21342200-21342400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr14:21342200-21342400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:21342200-21342400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:21342200-21342400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:21342200-21342400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr14:21342200-21342400	Active TSS	Fetal Muscle Trunk	muscle

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