Variant report

Variant	rs2295977
Chromosome Location	chr14:24657226-24657227
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	MBD4	chr14:24656692-24659174	HepG2	liver:	n/a	n/a
2	MBD4	chr14:24657149-24658535	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:24656805-24658478	K562	blood:	n/a	n/a
4	MYBL2	chr14:24657117-24658629	HepG2	liver:	n/a	n/a
5	MAX	chr14:24657156-24658372	MCF-7	breast:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
6	MAX	chr14:24656930-24658408	HepG2	liver:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
7	POLR2A	chr14:24656969-24657238	Hela-S3	cervix:	n/a	n/a
8	MAX	chr14:24657183-24658511	HCT-116	colon:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
9	HCFC1	chr14:24657057-24658634	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:24656828-24660066	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:24657189-24658367	HEK293	kidney:	n/a	n/a
12	GABPA	chr14:24657188-24658930	MCF-7	breast:	n/a	n/a
13	MAZ	chr14:24656721-24658569	IMR90	lung:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053
14	TEAD4	chr14:24657160-24658727	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:24657189-24657258	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:24657189-24658485	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:24657218-24658407	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr14:24656719-24657229	GM12891	blood:	n/a	n/a
19	FOSL2	chr14:24656962-24658392	HepG2	liver:	n/a	n/a
20	NFIC	chr14:24657099-24658458	HepG2	liver:	n/a	chr14:24657110-24657127
21	HEY1	chr14:24657208-24658466	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:24657203-24658383	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr14:24657179-24658521	MCF-7	breast:	n/a	n/a
24	POLR2A	chr14:24657190-24658448	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr14:24657199-24658407	GM12892	blood:	n/a	n/a
26	CREB1	chr14:24657127-24658513	HepG2	liver:	n/a	n/a
27	MYBL2	chr14:24656814-24658778	HepG2	liver:	n/a	n/a
28	GABPA	chr14:24657156-24658573	MCF-7	breast:	n/a	n/a
29	MTA3	chr14:24656996-24658531	GM12878	blood:	n/a	n/a
30	MXI1	chr14:24656658-24658640	SK-N-SH	brain:	n/a	n/a
31	SREBP2	chr14:24657224-24659059	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:24656597-24659176	HepG2	liver:	n/a	n/a
33	TCF12	chr14:24657159-24658574	A549	lung:	n/a	n/a
34	POLR2A	chr14:24657210-24658421	MCF10A-Er-Src	breast:	n/a	n/a
35	MXI1	chr14:24656802-24658705	IMR90	lung:	n/a	n/a
36	SIN3AK20	chr14:24657045-24658627	MCF-7	breast:	n/a	n/a
37	POLR2A	chr14:24656668-24658333	GM12891	blood:	n/a	n/a
38	MAX	chr14:24656943-24658527	HepG2	liver:	n/a	chr14:24657647-24657654 chr14:24658045-24658052 chr14:24657648-24657657 chr14:24657646-24657655 chr14:24658044-24658053

No.	Distal block	Cell Line	Cell type
1	chr14:24655487..24659760-chr14:24674840..24680491,9	MCF-7	breast:
2	chr14:24657069..24662255-chr14:24679017..24683823,7	K562	blood:
3	chr14:24634103..24636921-chr14:24656610..24658137,3	K562	blood:
4	chr14:24657069..24659757-chr14:24681163..24683823,2	K562	blood:
5	chr14:24656006..24657635-chr14:24902151..24905005,2	MCF-7	breast:
6	chr14:24581352..24586794-chr14:24656349..24659951,9	MCF-7	breast:
7	chr14:24655787..24658216-chr14:24740858..24744211,3	K562	blood:
8	chr14:24656467..24658398-chr14:24732926..24735303,2	MCF-7	breast:
9	chr14:24655312..24660662-chr14:24700172..24703885,7	MCF-7	breast:
10	chr14:24629462..24633065-chr14:24656618..24659351,3	K562	blood:
11	chr11:71158745..71161047-chr14:24656517..24659263,2	MCF-7	breast:
12	chr14:24656442..24659058-chr14:24740338..24741851,2	MCF-7	breast:
13	chr14:24614878..24617313-chr14:24657091..24660005,3	K562	blood:
14	chr14:24026023..24030231-chr14:24656476..24659389,3	MCF-7	breast:
15	chr14:24634478..24636921-chr14:24656618..24658137,2	K562	blood:
16	chr14:24563470..24565156-chr14:24656534..24660017,3	K562	blood:
17	chr14:24641149..24643201-chr14:24656538..24659107,2	K562	blood:
18	chr14:24601126..24603533-chr14:24656330..24657992,2	K562	blood:
19	chr14:24655775..24658265-chr14:24801236..24803229,2	MCF-7	breast:
20	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
21	chr14:24656637..24660595-chr14:24683855..24686255,4	K562	blood:
22	chr14:24655837..24658282-chr14:24904503..24906148,2	K562	blood:
23	chr14:24615813..24618172-chr14:24656999..24660005,5	K562	blood:
24	chr14:24653860..24661964-chr14:24680820..24687057,41	MCF-7	breast:
25	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
26	chr14:24629833..24630577-chr14:24657173..24657821,2	MCF-7	breast:
27	chr14:24628862..24633065-chr14:24656261..24659048,5	K562	blood:
28	chr14:23790288..23791874-chr14:24656681..24658502,2	MCF-7	breast:
29	chr14:24656097..24659538-chr14:24709665..24713530,7	MCF-7	breast:

Variant related genes	Relation type
IPO4	TF binding region
ENSG00000100441	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000100836	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000213983	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000139914	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000268702	Chromatin interaction
ENSG00000254682	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000259431	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000157379	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10467733	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11550452	0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12432304	1.00[CEU][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs2025258	0.91[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs2295978	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495052	0.94[EUR][1000 genomes]
rs36113166	0.82[EUR][1000 genomes]
rs4761	0.91[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap]
rs59110805	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146310	0.87[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154911	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	esv1804053	chr14:24642785-24660721	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24654600-24657600	Weak transcription	Aorta	Aorta
2	chr14:24655600-24657400	Genic enhancers	Spleen	Spleen
3	chr14:24655800-24657400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:24656400-24657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:24656400-24657400	Flanking Active TSS	Hela-S3	cervix
6	chr14:24656600-24657400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:24656600-24657400	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:24656600-24657400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr14:24656600-24657400	Enhancers	Gastric	stomach
10	chr14:24656600-24657600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:24656600-24657600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr14:24656600-24657600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:24656600-24657600	Transcr. at gene 5' and 3'	HepG2	liver
14	chr14:24656600-24657800	Flanking Active TSS	Dnd41	blood
15	chr14:24656600-24658600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:24656800-24657400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr14:24656800-24657400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:24656800-24657400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:24656800-24657400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:24656800-24657400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr14:24656800-24657400	Flanking Active TSS	Fetal Lung	lung
22	chr14:24656800-24657400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:24656800-24657400	Enhancers	Right Atrium	heart
24	chr14:24656800-24657400	Enhancers	Small Intestine	intestine
25	chr14:24656800-24657400	Flanking Active TSS	GM12878-XiMat	blood
26	chr14:24656800-24657400	Flanking Active TSS	HMEC	breast
27	chr14:24656800-24657400	Flanking Active TSS	HSMM	muscle
28	chr14:24656800-24657400	Flanking Active TSS	HSMMtube	muscle
29	chr14:24656800-24657600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr14:24656800-24657600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:24656800-24657600	Flanking Active TSS	Pancreas	Pancrea
32	chr14:24656800-24657600	Flanking Active TSS	NH-A	brain
33	chr14:24656800-24657600	Flanking Active TSS	Osteobl	bone
34	chr14:24656800-24657800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr14:24656800-24658000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:24656800-24658400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:24656800-24658400	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr14:24657000-24657400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
39	chr14:24657000-24657400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:24657000-24657400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:24657000-24657400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:24657000-24657400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:24657000-24657400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:24657000-24657400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr14:24657000-24657400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:24657000-24657400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr14:24657000-24657400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr14:24657000-24657400	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr14:24657000-24657400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr14:24657000-24657400	Flanking Active TSS	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links