Variant report

Variant	rs73288671
Chromosome Location	chr14:67960009-67960010
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	SPI1	chr14:67959356-67960464	GM12878	blood:	n/a	chr14:67959917-67959930 chr14:67959914-67959923
2	EP300	chr14:67959837-67960037	GM12878	blood:	n/a	chr14:67959914-67959928
3	NFYB	chr14:67959926-67960591	GM12878	blood:	n/a	n/a
4	EBF1	chr14:67959794-67960224	GM12878	blood:	n/a	n/a
5	KAP1	chr14:67959848-67960396	K562	blood:	n/a	n/a
6	SETDB1	chr14:67959805-67960514	U2OS	brain:	n/a	n/a
7	RUNX3	chr14:67959789-67960229	GM12878	blood:	n/a	n/a
8	E2F6	chr14:67959956-67960096	K562	blood:	n/a	n/a
9	SPI1	chr14:67959645-67960158	GM12891	blood:	n/a	chr14:67959917-67959930 chr14:67959914-67959923
10	EBF1	chr14:67959802-67960056	GM12878	blood:	n/a	n/a
11	IRF4	chr14:67959733-67960199	GM12878	blood:	n/a	n/a
12	CUX1	chr14:67959858-67960038	GM12878	blood:	n/a	n/a
13	SPI1	chr14:67959707-67960120	GM12878	blood:	n/a	chr14:67959917-67959930 chr14:67959914-67959923
14	E2F6	chr14:67959880-67960284	H1-hESC	embryonic stem cell:	n/a	n/a
15	SPI1	chr14:67959749-67960068	GM12878	blood:	n/a	chr14:67959917-67959930 chr14:67959914-67959923
16	RCOR1	chr14:67959853-67960273	GM12878	blood:	n/a	n/a
17	STAT3	chr14:67959836-67960219	GM12878	blood:	n/a	chr14:67959912-67959923
18	KAP1	chr14:67959928-67960535	HEK293	kidney:	n/a	n/a
19	E2F6	chr14:67959831-67960231	H1-hESC	embryonic stem cell:	n/a	n/a
20	MTA3	chr14:67959597-67960468	GM12878	blood:	n/a	n/a
21	SPI1	chr14:67959662-67960161	GM12891	blood:	n/a	chr14:67959917-67959930 chr14:67959914-67959923
22	REST	chr14:67959784-67960010	Hela-S3	cervix:	n/a	n/a
23	EP300	chr14:67959766-67960042	GM12878	blood:	n/a	chr14:67959914-67959928
24	JUND	chr14:67959977-67960051	H1-hESC	embryonic stem cell:	n/a	n/a
25	WRNIP1	chr14:67959838-67960124	GM12878	blood:	n/a	n/a
26	CBX3	chr14:67959916-67960503	HCT-116	colon:	n/a	n/a
27	MAX	chr14:67959946-67960131	GM12878	blood:	n/a	n/a
28	RUNX3	chr14:67959784-67960083	GM12878	blood:	n/a	n/a
29	ATF2	chr14:67959748-67960269	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67946842..67948505-chr14:67958854..67960376,2	MCF-7	breast:
2	chr14:67958532..67960462-chr14:67983895..67986078,2	MCF-7	breast:
3	chr14:67953372..67955912-chr14:67957756..67960248,2	K562	blood:

Variant related genes	Relation type
TMEM229B	TF binding region
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58859738	1.00[AFR][1000 genomes]
rs61628803	1.00[AFR][1000 genomes]
rs7156024	1.00[AFR][1000 genomes]
rs73272303	1.00[AFR][1000 genomes]
rs73272305	0.81[AFR][1000 genomes]
rs73272306	0.81[AFR][1000 genomes]
rs73288659	1.00[AFR][1000 genomes]
rs73288667	1.00[AFR][1000 genomes]
rs73288672	0.90[AFR][1000 genomes]
rs73288679	1.00[AFR][1000 genomes]
rs73288681	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:67956200-67960200	Weak transcription	Primary T cells from cord blood	blood
4	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:67956400-67960400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:67956800-67961000	ZNF genes & repeats	GM12878-XiMat	blood
7	chr14:67959000-67961600	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr14:67959200-67960600	ZNF genes & repeats	Dnd41	blood
9	chr14:67959400-67961000	Weak transcription	Pancreas	Pancrea
10	chr14:67959400-67961600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
12	chr14:67959600-67960800	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr14:67959600-67961600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr14:67959800-67960400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr14:67959800-67961400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:67959800-67961600	ZNF genes & repeats	Thymus	Thymus
17	chr14:67960000-67960200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:67960000-67960200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr14:67960000-67960400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
20	chr14:67960000-67960600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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