Variant report

Variant	rs58053579
Chromosome Location	chr14:70124813-70124814
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	JUN	chr14:70124340-70125991	K562	blood:	n/a	chr14:70125598-70125608 chr14:70125598-70125608 chr14:70125953-70125965 chr14:70125599-70125608 chr14:70125598-70125608 chr14:70125598-70125608
2	STAT3	chr14:70124623-70124944	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr14:70124605-70124818	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr14:70124740-70124890	AoAF	blood vessel:	n/a	n/a
5	TCF12	chr14:70124533-70125274	ECC-1	luminal epithelium:	n/a	n/a
6	HDAC2	chr14:70124477-70125903	MCF-7	breast:	n/a	chr14:70125274-70125288
7	MAX	chr14:70124554-70125806	ECC-1	luminal epithelium:	n/a	chr14:70124812-70124825 chr14:70124816-70124823 chr14:70125598-70125607
8	BHLHE40	chr14:70124683-70124855	K562	blood:	n/a	n/a
9	FOXA1	chr14:70124638-70125137	HepG2	liver:	n/a	chr14:70124906-70124921
10	MYBL2	chr14:70124665-70125125	HepG2	liver:	n/a	n/a
11	FOS	chr14:70124591-70125056	MCF10A-Er-Src	breast:	n/a	n/a
12	USF1	chr14:70124620-70125157	ECC-1	luminal epithelium:	n/a	n/a
13	MYC	chr14:70124803-70124992	HepG2	liver:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
14	FOXA1	chr14:70124631-70125199	HepG2	liver:	n/a	chr14:70124906-70124921
15	MYC	chr14:70124564-70125087	MCF10A-Er-Src	breast:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
16	FOXA2	chr14:70124758-70125137	A549	lung:	n/a	n/a
17	MYC	chr14:70124689-70125079	MCF-7	breast:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
18	USF1	chr14:70124560-70125074	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr14:70124429-70125843	MCF-7	breast:	n/a	chr14:70124812-70124825 chr14:70124816-70124823 chr14:70125598-70125607
20	MAX	chr14:70124584-70125200	H1-hESC	embryonic stem cell:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
21	POLR2A	chr14:70124660-70125657	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr14:70124639-70125160	H1-hESC	embryonic stem cell:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
23	FOS	chr14:70124600-70124976	MCF10A-Er-Src	breast:	n/a	n/a
24	TCF12	chr14:70124392-70125401	ECC-1	luminal epithelium:	n/a	n/a
25	NR2F2	chr14:70124570-70125925	MCF-7	breast:	n/a	n/a
26	FOXA1	chr14:70124596-70125164	HepG2	liver:	n/a	chr14:70124906-70124921
27	FOXA1	chr14:70124604-70125071	HepG2	liver:	n/a	chr14:70124906-70124921
28	MAX	chr14:70124797-70124967	K562	blood:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
29	CTCF	chr14:70124680-70124830	NHEK	skin:	n/a	n/a
30	MYC	chr14:70124544-70125066	MCF10A-Er-Src	breast:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
31	MAX	chr14:70124782-70124988	HepG2	liver:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
32	NR2F2	chr14:70124470-70125955	MCF-7	breast:	n/a	n/a
33	FOXA1	chr14:70124611-70125129	T-47D	breast:	n/a	chr14:70124906-70124921
34	ZNF217	chr14:70124669-70125073	MCF-7	breast:	n/a	n/a
35	USF1	chr14:70124716-70124921	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:70124488-70125153	ECC-1	luminal epithelium:	n/a	n/a
37	E2F4	chr14:70124801-70124992	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr14:70124534-70125877	ECC-1	luminal epithelium:	n/a	chr14:70124827-70124841 chr14:70125598-70125607
39	FOXA2	chr14:70124742-70125071	HepG2	liver:	n/a	n/a
40	RAD21	chr14:70124602-70125235	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr14:70124780-70124930	SAEC	small airway:	n/a	n/a
42	MAX	chr14:70124581-70125026	K562	blood:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
43	RAD21	chr14:70124706-70125023	HepG2	liver:	n/a	n/a
44	FOXA1	chr14:70124763-70125000	ECC-1	luminal epithelium:	n/a	chr14:70124906-70124921
45	HDAC2	chr14:70124548-70125220	MCF-7	breast:	n/a	n/a
46	FOXA1	chr14:70124581-70125160	T-47D	breast:	n/a	chr14:70124906-70124921
47	MAX	chr14:70124628-70125214	H1-hESC	embryonic stem cell:	n/a	chr14:70124812-70124825 chr14:70124816-70124823
48	MAX	chr14:70124506-70125945	MCF-7	breast:	n/a	chr14:70124812-70124825 chr14:70124816-70124823 chr14:70125598-70125607
49	FOS	chr14:70124696-70124914	MCF10A-Er-Src	breast:	n/a	n/a
50	FOXA2	chr14:70124611-70125156	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70121974..70124991-chr14:70161364..70163471,3	K562	blood:
2	chr14:70124205..70126488-chr14:70237428..70239056,2	K562	blood:

Variant related genes	Relation type
KIAA0247	TF binding region
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11844465	1.00[EUR][1000 genomes]
rs11845465	1.00[EUR][1000 genomes]
rs11845528	1.00[EUR][1000 genomes]
rs11845658	1.00[EUR][1000 genomes]
rs11849924	1.00[EUR][1000 genomes]
rs12100899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1803419	1.00[EUR][1000 genomes]
rs1957367	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55959724	1.00[EUR][1000 genomes]
rs56051240	1.00[EUR][1000 genomes]
rs56808476	1.00[EUR][1000 genomes]
rs56859443	1.00[EUR][1000 genomes]
rs57781039	1.00[EUR][1000 genomes]
rs58140746	1.00[EUR][1000 genomes]
rs58503693	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58583730	1.00[EUR][1000 genomes]
rs60085780	1.00[EUR][1000 genomes]
rs60835679	1.00[EUR][1000 genomes]
rs61498582	1.00[EUR][1000 genomes]
rs61734222	1.00[EUR][1000 genomes]
rs61745930	1.00[EUR][1000 genomes]
rs7144597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060205	1.00[EUR][1000 genomes]
rs74060220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060234	1.00[EUR][1000 genomes]
rs74060251	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060261	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060267	1.00[EUR][1000 genomes]
rs74060270	1.00[EUR][1000 genomes]
rs74060281	1.00[EUR][1000 genomes]
rs74060283	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060286	1.00[EUR][1000 genomes]
rs74060294	1.00[EUR][1000 genomes]
rs74060297	1.00[EUR][1000 genomes]
rs74060575	1.00[EUR][1000 genomes]
rs74061847	1.00[EUR][1000 genomes]
rs74061848	1.00[EUR][1000 genomes]
rs74061850	1.00[EUR][1000 genomes]
rs74061851	1.00[EUR][1000 genomes]
rs74061853	1.00[EUR][1000 genomes]
rs74061856	1.00[EUR][1000 genomes]
rs74061857	1.00[EUR][1000 genomes]
rs74061864	1.00[EUR][1000 genomes]
rs8009986	1.00[EUR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:70114000-70125000	Enhancers	Fetal Intestine Large	intestine
4	chr14:70114000-70126400	Enhancers	Left Ventricle	heart
5	chr14:70116000-70125800	Enhancers	Pancreas	Pancrea
6	chr14:70116600-70130400	Weak transcription	Brain Germinal Matrix	brain
7	chr14:70117800-70127800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:70118000-70126600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:70119000-70129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:70119600-70125200	Weak transcription	Primary T cells from cord blood	blood
11	chr14:70120200-70125000	Weak transcription	HUVEC	blood vessel
12	chr14:70120200-70126000	Weak transcription	NHLF	lung
13	chr14:70120800-70129200	Weak transcription	Fetal Kidney	kidney
14	chr14:70121000-70125800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:70121200-70126600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:70121400-70125000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:70121400-70129200	Weak transcription	A549	lung
18	chr14:70122200-70126200	Enhancers	Small Intestine	intestine
19	chr14:70122200-70129600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:70122400-70126600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:70123000-70125000	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:70123000-70128400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:70123400-70125200	Weak transcription	Thymus	Thymus
25	chr14:70123600-70125400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:70123600-70125400	Enhancers	Fetal Muscle Leg	muscle
27	chr14:70123600-70129200	Strong transcription	Primary B cells from cord blood	blood
28	chr14:70123800-70125200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:70123800-70125400	Enhancers	Liver	Liver
30	chr14:70123800-70126000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:70123800-70126800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr14:70123800-70137600	Weak transcription	Dnd41	blood
33	chr14:70124000-70125200	Enhancers	GM12878-XiMat	blood
34	chr14:70124200-70125200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr14:70124200-70125200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:70124200-70125800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:70124200-70126000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:70124400-70125000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:70124400-70125000	Enhancers	Osteobl	bone
40	chr14:70124400-70125200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:70124400-70125400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:70124400-70125400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:70124400-70125400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:70124400-70125400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:70124400-70125400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:70124400-70125600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:70124400-70125600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:70124400-70125600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:70124400-70125600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:70124400-70125600	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links