Variant report

Variant	rs560308201
Chromosome Location	chr14:21342107-21342108
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	NRF1	chr14:21342081-21342127	GM12878	blood:	n/a	n/a
5	RAD21	chr14:21341793-21342124	HepG2	liver:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
6	YY1	chr14:21341824-21342303	H1-hESC	embryonic stem cell:	n/a	chr14:21341954-21341968
7	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
8	SIX5	chr14:21341967-21342180	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:21341827-21342516	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr14:21341844-21342114	ProgFib	skin:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
11	RAD21	chr14:21341776-21342166	HepG2	liver:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
12	POLR2A	chr14:21341857-21342260	HCT-116	colon:	n/a	n/a
13	TAF1	chr14:21341811-21342420	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr14:21341644-21342303	SK-N-SH	brain:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
15	GABPA	chr14:21341738-21342343	A549	lung:	n/a	n/a
16	CEBPB	chr14:21341896-21342213	MCF-7	breast:	n/a	n/a
17	MAX	chr14:21341866-21342243	A549	lung:	n/a	n/a
18	CEBPB	chr14:21341879-21342172	HepG2	liver:	n/a	n/a
19	POLR2A	chr14:21341771-21342479	SK-N-MC	brain:	n/a	n/a
20	ZNF143	chr14:21341779-21342263	H1-hESC	embryonic stem cell:	n/a	n/a
21	E2F6	chr14:21341912-21342186	K562	blood:	n/a	chr14:21342114-21342121 chr14:21342114-21342121 chr14:21342113-21342122 chr14:21342113-21342125 chr14:21342114-21342121
22	CREB1	chr14:21341864-21342173	H1-hESC	embryonic stem cell:	n/a	n/a
23	ELF1	chr14:21341825-21342362	HCT-116	colon:	n/a	n/a
24	RAD21	chr14:21341694-21342275	H1-hESC	embryonic stem cell:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
25	JUND	chr14:21341830-21342131	K562	blood:	n/a	n/a
26	RCOR1	chr14:21341814-21342194	K562	blood:	n/a	n/a
27	CEBPB	chr14:21341854-21342226	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr14:21341852-21342195	K562	blood:	n/a	n/a
29	CTCF	chr14:21341761-21342199	MCF-7	breast:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
30	JUND	chr14:21342027-21342155	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF143	chr14:21341800-21342135	GM12878	blood:	n/a	n/a
32	GABPA	chr14:21341823-21342389	HL-60	blood:	n/a	n/a
33	ELF1	chr14:21341822-21342221	HepG2	liver:	n/a	n/a
34	SMC3	chr14:21341805-21342181	K562	blood:	n/a	chr14:21341958-21341968 chr14:21341958-21341972
35	CTCF	chr14:21341834-21342122	Gliobla	brain:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
36	MAX	chr14:21341842-21342173	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr14:21341808-21342180	ECC-1	luminal epithelium:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
38	CTCF	chr14:21341833-21342124	GM19238	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
39	RAD21	chr14:21341629-21342245	A549	lung:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
40	RAD21	chr14:21341784-21342137	IMR90	lung:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
41	RUNX3	chr14:21341751-21342296	GM12878	blood:	n/a	n/a
42	CTCF	chr14:21341792-21342136	K562	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
43	MAX	chr14:21341736-21342365	A549	lung:	n/a	n/a
44	CTCF	chr14:21341846-21342115	MCF-7	breast:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974
45	RAD21	chr14:21341803-21342200	MCF-7	breast:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
46	GABPA	chr14:21341804-21342304	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr14:21341808-21342201	GM12878	blood:	n/a	chr14:21341954-21341968
48	RAD21	chr14:21341692-21342126	A549	lung:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
49	CTCF	chr14:21341638-21342340	HCT-116	colon:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
50	EP300	chr14:21341849-21342199	H1-hESC	embryonic stem cell:	n/a	chr14:21341956-21341965

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21342066-21342116	HNPCEpiC	eye:	n/a
2	chr14:21342066-21342116	K562	blood:	n/a
3	chr14:21342066-21342116	HCM	heart:	n/a
4	chr14:21342066-21342116	BE2_C	brain:	n/a
5	chr14:21342066-21342116	MCF10A-Er-Src	breast:	n/a
6	chr14:21342066-21342116	GM12892	blood:	n/a
7	chr14:21342066-21342116	HUVEC	blood vessel:	n/a
8	chr14:21342066-21342116	AoSMC	blood vessel:	n/a
9	chr14:21342066-21342116	Hela-S3	cervix:	n/a
10	chr14:21342066-21342116	NHBE	bronchial:	n/a
11	chr14:21342066-21342116	HRPEpiC	eye:	n/a
12	chr14:21342066-21342116	NB4	blood:	n/a
13	chr14:21342066-21342116	HEK293	kidney:	embryo
14	chr14:21342066-21342116	SKMC	muscle:	n/a
15	chr14:21342066-21342116	LNCaP	prostate:	n/a
16	chr14:21342066-21342116	SK-N-SH	brain:	n/a
17	chr14:21342066-21342116	HIPEpiC	eye:	n/a
18	chr14:21342066-21342116	T-47D	breast:	n/a
19	chr14:21342066-21342116	HEEpiC	esophagus:	n/a
20	chr14:21342066-21342116	NH-A	brain:	n/a
21	chr14:21342066-21342116	NT2-D1	testis:	n/a
22	chr14:21342066-21342116	HCT-116	colon:	n/a
23	chr14:21342066-21342116	AG10803	skin:	n/a
24	chr14:21342066-21342116	HAEpiC	amniotic membrane:	n/a
25	chr14:21342066-21342116	PrEC	prostate:	n/a
26	chr14:21342066-21342116	RPTEC	kidney:	n/a
27	chr14:21342066-21342116	H1-hESC	embryonic stem cell:	embryo
28	chr14:21342066-21342116	ECC-1	luminal epithelium:	n/a
29	chr14:21342066-21342116	U87	brain:	n/a
30	chr14:21342066-21342116	MCF-7	breast:	n/a
31	chr14:21342066-21342116	Jurkat	blood:	n/a
32	chr14:21342066-21342116	GM19239	blood:	n/a
33	chr14:21342066-21342116	SAEC	small airway:	n/a
34	chr14:21342066-21342116	GM12878	blood:	n/a
35	chr14:21342066-21342116	HRCEpiC	kidney:	n/a
36	chr14:21342066-21342116	AG09309	skin:	n/a
37	chr14:21342066-21342116	HRE	kidney:	n/a
38	chr14:21342066-21342116	HL-60	blood:	n/a
39	chr14:21342066-21342116	PFSK-1	brain:	n/a
40	chr14:21342066-21342116	HCPEpiC	choroid plexus:	n/a
41	chr14:21342066-21342116	GM06990	blood:	n/a
42	chr14:21342066-21342116	AG04450	lung:	fetal
43	chr14:21342066-21342116	IMR90	lung:	fetal
44	chr14:21342066-21342116	HCF	heart:	n/a
45	chr14:21342066-21342116	PANC-1	pancreas:	n/a
46	chr14:21342066-21342116	SK-N-SH_RA	brain:	n/a
47	chr14:21342066-21342116	A549	lung:	n/a
48	chr14:21342066-21342116	ovcar-3	ovarian:	n/a
49	chr14:21342066-21342116	GM12891	blood:	n/a
50	chr14:21342066-21342116	BJ	skin:	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
ENSG00000259130	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21341200-21342200	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr14:21341200-21342200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr14:21341200-21342200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:21341200-21342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:21341200-21342600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:21341200-21343200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:21341400-21342200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:21341400-21342200	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:21341400-21342200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:21341400-21342200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:21341400-21342200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:21341400-21342400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr14:21341400-21342400	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:21341400-21342400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:21341400-21342400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:21341400-21342400	Enhancers	Brain Anterior Caudate	brain
17	chr14:21341400-21342600	Enhancers	Primary B cells from cord blood	blood
18	chr14:21341400-21342600	Enhancers	Spleen	Spleen
19	chr14:21341400-21342600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr14:21341600-21342200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr14:21341600-21342200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:21341600-21342200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:21341600-21342200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:21341600-21342200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:21341600-21342200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr14:21341600-21342200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:21341600-21342200	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:21341600-21342200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr14:21341600-21342200	Active TSS	Fetal Kidney	kidney
30	chr14:21341600-21342200	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr14:21341600-21342200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr14:21341600-21342200	Enhancers	Thymus	Thymus
33	chr14:21341600-21342200	Flanking Active TSS	Dnd41	blood
34	chr14:21341600-21342200	Active TSS	K562	blood
35	chr14:21341600-21342400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:21341600-21342400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:21341600-21342400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr14:21341600-21342400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr14:21341600-21342400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:21341600-21342400	Enhancers	Liver	Liver
41	chr14:21341600-21342400	Active TSS	Brain Hippocampus Middle	brain
42	chr14:21341600-21342400	Bivalent Enhancer	HepG2	liver
43	chr14:21341600-21342600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr14:21341600-21342600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr14:21341800-21342200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:21341800-21342200	Active TSS	Brain Cingulate Gyrus	brain
47	chr14:21341800-21342400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:21341800-21342400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:21341800-21342400	Enhancers	Placenta	Placenta
50	chr14:21341800-21342400	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links