Variant report

Variant	rs6573678
Chromosome Location	chr14:24766511-24766512
allele	C/T
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	EP300	chr14:24766040-24766578	HepG2	liver:	n/a	chr14:24766130-24766139
2	EBF1	chr14:24765845-24766687	GM12878	blood:	n/a	n/a
3	RAD21	chr14:24765825-24766622	HepG2	liver:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
4	MBD4	chr14:24765655-24767231	HepG2	liver:	n/a	n/a
5	CTCF	chr14:24765692-24767247	A549	lung:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
6	FOXM1	chr14:24765823-24766737	GM12878	blood:	n/a	n/a
7	CTCF	chr14:24766480-24766603	K562	blood:	n/a	n/a
8	RUNX3	chr14:24765813-24766746	GM12878	blood:	n/a	n/a
9	CTCF	chr14:24766440-24766590	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr14:24765997-24766511	MCF-7	breast:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
11	CEBPB	chr14:24765916-24766539	GM12878	blood:	n/a	n/a
12	MTA3	chr14:24765611-24766892	GM12878	blood:	n/a	n/a
13	ARID3A	chr14:24766039-24766556	HepG2	liver:	n/a	n/a
14	RAD21	chr14:24765821-24766631	MCF-7	breast:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
15	CTCF	chr14:24766460-24766610	AG04449	skin:	n/a	n/a
16	MYBL2	chr14:24765782-24767282	HepG2	liver:	n/a	n/a
17	CTCF	chr14:24765682-24767410	SK-N-SH	brain:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
18	NFATC1	chr14:24765826-24766550	GM12878	blood:	n/a	n/a
19	RELA	chr14:24765952-24766585	GM18951	blood:	n/a	n/a
20	RAD21	chr14:24765873-24766512	IMR90	lung:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
21	ATF2	chr14:24765811-24766573	GM12878	blood:	n/a	n/a
22	RAD21	chr14:24765840-24766560	HCT-116	colon:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
23	SMC3	chr14:24765997-24767184	HepG2	liver:	n/a	chr14:24766230-24766244
24	RAD21	chr14:24765974-24766596	MCF-7	breast:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
25	NFIC	chr14:24765966-24766545	GM12878	blood:	n/a	n/a
26	NFATC1	chr14:24765935-24766630	GM12878	blood:	n/a	n/a
27	MAX	chr14:24765925-24766621	GM12878	blood:	n/a	n/a
28	CTCF	chr14:24765867-24766528	MCF-7	breast:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
29	RAD21	chr14:24765884-24766583	GM12878	blood:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
30	CTCF	chr14:24765927-24766521	K562	blood:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
31	CTCF	chr14:24766480-24766630	HCT-116	colon:	n/a	n/a
32	CTCF	chr14:24765820-24767261	HCT-116	colon:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
33	CTCF	chr14:24765922-24767319	HepG2	liver:	n/a	chr14:24766223-24766244 chr14:24766228-24766246 chr14:24766230-24766243 chr14:24766231-24766241
34	RAD21	chr14:24765905-24767314	SK-N-SH	brain:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
35	FOS	chr14:24765918-24766623	HUVEC	blood vessel:	n/a	chr14:24766132-24766139 chr14:24766129-24766140 chr14:24766129-24766140 chr14:24766130-24766139
36	WRNIP1	chr14:24765971-24766577	GM12878	blood:	n/a	n/a
37	CTCF	chr14:24766420-24766570	K562	blood:	n/a	n/a
38	POLR2A	chr14:24765979-24766530	HepG2	liver:	n/a	n/a
39	SMC3	chr14:24766001-24767181	Hela-S3	cervix:	n/a	chr14:24766230-24766244
40	SMC3	chr14:24765780-24767249	SK-N-SH	brain:	n/a	chr14:24766230-24766244
41	CTCF	chr14:24766460-24766537	GM20000	blood:	n/a	n/a
42	RUNX3	chr14:24765898-24766716	GM12878	blood:	n/a	n/a
43	RAD21	chr14:24765848-24766661	HCT-116	colon:	n/a	chr14:24766226-24766245 chr14:24766232-24766241 chr14:24766228-24766240 chr14:24766229-24766242 chr14:24766230-24766240
44	GATA3	chr14:24766489-24767439	MCF-7	breast:	n/a	n/a
45	MTA3	chr14:24765944-24766612	GM12878	blood:	n/a	n/a
46	SMC3	chr14:24765896-24767171	GM12878	blood:	n/a	chr14:24766230-24766244
47	MXI1	chr14:24765285-24766605	IMR90	lung:	n/a	n/a
48	TBL1XR1	chr14:24766048-24766555	GM12878	blood:	n/a	n/a
49	MBD4	chr14:24765858-24767207	HepG2	liver:	n/a	n/a
50	MAZ	chr14:24765772-24766823	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24760425..24763261-chr14:24763604..24766558,4	MCF-7	breast:
2	chr14:24684803..24685769-chr14:24765772..24766682,4	K562	blood:
3	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
4	chr14:24680927..24686311-chr14:24766466..24771455,6	K562	blood:
5	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
6	chr14:24527263..24528098-chr14:24766176..24766963,2	MCF-7	breast:
7	chr14:24748117..24749826-chr14:24765905..24766674,5	MCF-7	breast:
8	chr14:24759345..24761161-chr14:24766043..24768971,2	K562	blood:
9	chr14:24527264..24528168-chr14:24766160..24766741,2	K562	blood:
10	chr14:24759955..24762103-chr14:24766475..24767984,2	K562	blood:
11	chr14:24747459..24749153-chr14:24766216..24767743,2	MCF-7	breast:
12	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
13	chr14:24745018..24746771-chr14:24765412..24768322,2	K562	blood:
14	chr14:24717480..24720084-chr14:24765245..24767667,2	K562	blood:
15	chr14:24766197..24768383-chr14:24901175..24902842,2	K562	blood:
16	chr14:24764989..24768278-chr14:24895035..24897150,3	K562	blood:
17	chr14:24765284..24770509-chr14:24899183..24903551,4	MCF-7	breast:
18	chr14:24766227..24766812-chr14:24901057..24901559,2	MCF-7	breast:
19	chr14:24617565..24619359-chr14:24765168..24767839,2	K562	blood:
20	chr14:24710970..24711534-chr14:24766128..24766678,2	K562	blood:
21	chr14:24711747..24713361-chr14:24764963..24767066,22	MCF-7	breast:
22	chr14:24711567..24712777-chr14:24765600..24767078,6	K562	blood:
23	chr14:24738683..24743110-chr14:24766285..24769354,4	K562	blood:
24	chr14:24710819..24712965-chr14:24764278..24766988,3	K562	blood:
25	chr14:24765570..24768951-chr14:24773362..24777339,4	K562	blood:
26	chr14:24766317..24768502-chr19:39108568..39111298,2	MCF-7	breast:
27	chr14:24748208..24749586-chr14:24765690..24766775,9	MCF-7	breast:

Variant related genes	Relation type
DHRS1	TF binding region
NOP9	TF binding region
ENSG00000100949	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000178982	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000104814	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000255526	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10138762	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10144194	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1053648	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1053649	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12587807	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12891891	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12896458	0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1950505	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2144492	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2144493	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2180197	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2281472	0.92[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2295303	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2332232	0.80[ASN][1000 genomes]
rs3181382	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3742510	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3742511	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4247000	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4247001	0.83[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982895	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs941506	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
3	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
4	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
5	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:24759800-24766600	Genic enhancers	Liver	Liver
7	chr14:24759800-24768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:24760200-24767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:24761600-24767800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:24761800-24768400	Weak transcription	Small Intestine	intestine
11	chr14:24762000-24768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:24762000-24768000	Weak transcription	Right Ventricle	heart
13	chr14:24765000-24768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:24765200-24766600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:24765400-24768000	Weak transcription	Brain Germinal Matrix	brain
16	chr14:24765400-24768200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:24765600-24766600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:24765600-24766600	Enhancers	NH-A	brain
19	chr14:24765600-24766600	Genic enhancers	NHDF-Ad	bronchial
20	chr14:24765600-24768000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:24765600-24768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:24765600-24768000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:24765600-24768000	Weak transcription	Fetal Brain Female	brain
24	chr14:24765800-24766600	Genic enhancers	Adipose Nuclei	Adipose
25	chr14:24765800-24766600	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:24765800-24766600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr14:24765800-24766600	Enhancers	Pancreas	Pancrea
28	chr14:24765800-24766800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:24765800-24767000	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr14:24765800-24767000	Enhancers	HUVEC	blood vessel
31	chr14:24765800-24767000	Genic enhancers	K562	blood
32	chr14:24765800-24767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:24765800-24767800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:24765800-24767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:24765800-24767800	Enhancers	Hela-S3	cervix
36	chr14:24765800-24767800	Enhancers	HMEC	breast
37	chr14:24765800-24768000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:24765800-24768000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:24765800-24768000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr14:24765800-24768000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:24765800-24768000	Genic enhancers	Fetal Intestine Small	intestine
42	chr14:24765800-24768000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:24765800-24768000	Enhancers	Dnd41	blood
44	chr14:24765800-24768200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:24765800-24768200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:24765800-24768200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:24765800-24768200	Weak transcription	Aorta	Aorta
48	chr14:24766000-24766600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:24766000-24766600	Genic enhancers	Primary T cells from cord blood	blood
50	chr14:24766000-24766600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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