Variant report

Variant	rs2792213
Chromosome Location	chr14:65771339-65771340
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	POLR2A	chr14:65768458-65771398	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:65767150-65771470	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:65767239-65771468	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:65767525-65772793	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:65768350-65771408	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:65767993-65772386	GM18505	blood:	n/a	n/a
7	POLR2A	chr14:65767590-65772501	GM12892	blood:	n/a	n/a
8	POLR2A	chr14:65768552-65772630	Raji	blood:	n/a	n/a
9	POLR2A	chr14:65767806-65771462	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:65768364-65771439	GM12891	blood:	n/a	n/a
11	STAT5A	chr14:65768360-65771354	GM12878	blood:	n/a	chr14:65769178-65769186 chr14:65771114-65771126
12	POLR2A	chr14:65771043-65771342	GM12891	blood:	n/a	n/a
13	MTA3	chr14:65768424-65771359	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:65770616-65771386	GM12892	blood:	n/a	n/a
15	BCLAF1	chr14:65768275-65771420	GM12878	blood:	n/a	chr14:65770652-65770665 chr14:65770644-65770657
16	POLR2A	chr14:65768385-65771394	GM19099	blood:	n/a	n/a
17	POLR2A	chr14:65768521-65771451	GM19193	blood:	n/a	n/a
18	RELA	chr14:65768429-65771360	GM19193	blood:	n/a	n/a
19	ZNF384	chr14:65770878-65771397	GM12878	blood:	n/a	n/a
20	EBF1	chr14:65770857-65771360	GM12878	blood:	n/a	n/a
21	EP300	chr14:65768316-65771347	GM12878	blood:	n/a	chr14:65770462-65770475 chr14:65769270-65769280
22	POLR2A	chr14:65768397-65771443	GM12891	blood:	n/a	n/a
23	POLR2A	chr14:65768387-65771360	GM12878	blood:	n/a	n/a
24	RUNX3	chr14:65768395-65771373	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:65768430-65771381	GM15510	blood:	n/a	n/a
26	MTA3	chr14:65767857-65771465	GM12878	blood:	n/a	n/a
27	FOXM1	chr14:65768482-65771401	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:65767278-65772457	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65770511..65773505-chr14:65781617..65783190,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258760	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11158590	1.00[ASN][1000 genomes]
rs17779061	1.00[ASN][1000 genomes]
rs34520181	1.00[ASN][1000 genomes]
rs61746615	1.00[ASN][1000 genomes]
rs7141874	1.00[ASN][1000 genomes]
rs946917	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65758800-65773400	Weak transcription	Spleen	Spleen
2	chr14:65760000-65781000	Weak transcription	Primary B cells from cord blood	blood
3	chr14:65763200-65774200	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:65766000-65772400	Enhancers	Stomach Mucosa	stomach
5	chr14:65767600-65772800	Enhancers	Duodenum Mucosa	Duodenum
6	chr14:65768400-65772400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr14:65768400-65772800	Enhancers	Primary T cells from cord blood	blood
8	chr14:65768600-65771400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:65768600-65772000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:65768600-65772400	Enhancers	Fetal Thymus	thymus
11	chr14:65768600-65772800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr14:65768600-65773600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:65768800-65772000	Enhancers	Brain Substantia Nigra	brain
14	chr14:65768800-65772200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:65769000-65772400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:65769200-65772000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:65769200-65772000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:65769200-65772400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:65769200-65782400	Weak transcription	Gastric	stomach
20	chr14:65769400-65783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:65769800-65771400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:65769800-65771400	Flanking Active TSS	GM12878-XiMat	blood
23	chr14:65769800-65771400	Enhancers	HepG2	liver
24	chr14:65770200-65771800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:65770200-65772000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:65770400-65771800	Weak transcription	Thymus	Thymus
27	chr14:65770400-65772000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:65770400-65772800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:65770600-65772000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:65770800-65771800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:65771000-65772200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:65771200-65771600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:65771200-65771800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:65771200-65772200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:65771200-65773400	Weak transcription	Fetal Intestine Small	intestine
36	chr14:65771200-65782400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links