Variant report

Variant	rs35779459
Chromosome Location	chr19:35927516-35927517
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	FOXM1	chr19:35927209-35927912	GM12878	blood:	n/a	n/a
2	CUX1	chr19:35927404-35927602	K562	blood:	n/a	n/a
3	MYC	chr19:35927235-35927868	MCF10A-Er-Src	breast:	n/a	chr19:35927727-35927736 chr19:35927726-35927735
4	JUN	chr19:35927447-35927780	K562	blood:	n/a	chr19:35927726-35927735 chr19:35927728-35927735 chr19:35927727-35927735
5	JUN	chr19:35927328-35928528	K562	blood:	n/a	chr19:35927726-35927735 chr19:35927728-35927735 chr19:35927727-35927735
6	EP300	chr19:35927427-35927778	Hela-S3	cervix:	n/a	chr19:35927726-35927735
7	STAT3	chr19:35927097-35928381	MCF10A-Er-Src	breast:	n/a	chr19:35928125-35928134 chr19:35928126-35928135 chr19:35927555-35927566 chr19:35927727-35927736 chr19:35927726-35927735 chr19:35928123-35928137 chr19:35928126-35928149
8	STAT5A	chr19:35927122-35927974	GM12878	blood:	n/a	chr19:35927727-35927736 chr19:35927726-35927735
9	POLR2A	chr19:35927312-35928054	MCF10A-Er-Src	breast:	n/a	n/a
10	SPI1	chr19:35927283-35927820	GM12891	blood:	n/a	chr19:35927474-35927487
11	ATF2	chr19:35927280-35927961	GM12878	blood:	n/a	n/a
12	EBF1	chr19:35927493-35927870	GM12878	blood:	n/a	n/a
13	MEF2A	chr19:35927221-35927831	GM12878	blood:	n/a	chr19:35927459-35927475 chr19:35927458-35927479 chr19:35927462-35927473 chr19:35927458-35927479 chr19:35927461-35927472 chr19:35927458-35927479 chr19:35927460-35927475 chr19:35927463-35927472 chr19:35927460-35927474
14	EP300	chr19:35927276-35927952	GM12878	blood:	n/a	chr19:35927726-35927735
15	SPI1	chr19:35927407-35927720	K562	blood:	n/a	chr19:35927474-35927487
16	MEF2C	chr19:35927233-35927870	GM12878	blood:	n/a	chr19:35927459-35927475 chr19:35927458-35927479 chr19:35927462-35927473 chr19:35927458-35927479 chr19:35927461-35927472 chr19:35927458-35927479 chr19:35927460-35927475 chr19:35927463-35927472 chr19:35927460-35927474
17	STAT3	chr19:35927137-35928416	MCF10A-Er-Src	breast:	n/a	chr19:35928125-35928134 chr19:35928126-35928135 chr19:35927555-35927566 chr19:35927727-35927736 chr19:35927726-35927735 chr19:35928123-35928137 chr19:35928126-35928149
18	BCLAF1	chr19:35927373-35927983	GM12878	blood:	n/a	chr19:35927726-35927735 chr19:35927727-35927736
19	TBL1XR1	chr19:35927393-35927746	K562	blood:	n/a	n/a
20	SP1	chr19:35927386-35928528	A549	lung:	n/a	n/a
21	REST	chr19:35927237-35928539	A549	lung:	n/a	chr19:35927572-35927580
22	FOS	chr19:35927368-35927918	MCF10A-Er-Src	breast:	n/a	chr19:35927725-35927736 chr19:35927726-35927735 chr19:35927728-35927735 chr19:35927727-35927735
23	FOS	chr19:35927286-35927932	MCF10A-Er-Src	breast:	n/a	chr19:35927725-35927736 chr19:35927726-35927735 chr19:35927728-35927735 chr19:35927727-35927735
24	STAT3	chr19:35927302-35927798	Hela-S3	cervix:	n/a	chr19:35927555-35927566 chr19:35927727-35927736 chr19:35927726-35927735
25	MTA3	chr19:35927107-35928022	GM12878	blood:	n/a	n/a
26	CBX3	chr19:35927278-35927996	HCT-116	colon:	n/a	n/a
27	STAT3	chr19:35927213-35928430	MCF10A-Er-Src	breast:	n/a	chr19:35928125-35928134 chr19:35928126-35928135 chr19:35927555-35927566 chr19:35927727-35927736 chr19:35927726-35927735 chr19:35928123-35928137 chr19:35928126-35928149
28	TEAD4	chr19:35927373-35927878	K562	blood:	n/a	n/a
29	MEF2A	chr19:35927238-35927811	GM12878	blood:	n/a	chr19:35927459-35927475 chr19:35927458-35927479 chr19:35927462-35927473 chr19:35927458-35927479 chr19:35927461-35927472 chr19:35927458-35927479 chr19:35927460-35927475 chr19:35927463-35927472 chr19:35927460-35927474
30	SPI1	chr19:35927321-35927768	GM12878	blood:	n/a	chr19:35927474-35927487
31	IKZF1	chr19:35927210-35927856	GM12878	blood:	n/a	chr19:35927260-35927272
32	POLR2A	chr19:35926740-35928479	MCF10A-Er-Src	breast:	n/a	n/a
33	JUND	chr19:35927449-35928015	K562	blood:	n/a	chr19:35927725-35927736 chr19:35927726-35927735 chr19:35927728-35927735 chr19:35927727-35927735
34	FOS	chr19:35927289-35927956	MCF10A-Er-Src	breast:	n/a	chr19:35927725-35927736 chr19:35927726-35927735 chr19:35927728-35927735 chr19:35927727-35927735
35	TCF12	chr19:35927168-35928770	A549	lung:	n/a	n/a
36	BHLHE40	chr19:35927263-35927877	GM12878	blood:	n/a	n/a
37	RUNX3	chr19:35927167-35928008	GM12878	blood:	n/a	n/a
38	NFIC	chr19:35927148-35927956	GM12878	blood:	n/a	n/a
39	SPI1	chr19:35927243-35927844	HL-60	blood:	n/a	chr19:35927474-35927487
40	SPI1	chr19:35927127-35928047	GM12878	blood:	n/a	chr19:35927474-35927487
41	FOSL2	chr19:35927366-35928485	A549	lung:	n/a	chr19:35927726-35927735 chr19:35927728-35927735 chr19:35927727-35927735
42	MAFK	chr19:35927446-35927866	K562	blood:	n/a	n/a
43	STAT3	chr19:35927074-35928274	MCF10A-Er-Src	breast:	n/a	chr19:35928125-35928134 chr19:35928126-35928135 chr19:35927555-35927566 chr19:35927727-35927736 chr19:35927726-35927735 chr19:35928123-35928137 chr19:35928126-35928149
44	ELF1	chr19:35927470-35927793	K562	blood:	n/a	chr19:35927626-35927639
45	KAP1	chr19:35927361-35927936	U2OS	brain:	n/a	chr19:35927725-35927734
46	CEBPB	chr19:35927370-35927849	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr19:35927349-35928060	HL-60	blood:	n/a	n/a
48	POLR2A	chr19:35927262-35928010	HL-60	blood:	n/a	n/a
49	NFIC	chr19:35927217-35927981	GM12878	blood:	n/a	n/a
50	ATF2	chr19:35927290-35927878	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35915232..35917304-chr19:35925660..35928337,3	K562	blood:
2	chr19:35925851..35929118-chr19:35935158..35937128,3	MCF-7	breast:
3	chr19:35925591..35928408-chr19:35988679..35991017,2	K562	blood:
4	chr19:35923144..35924892-chr19:35926828..35929356,2	K562	blood:
5	chr19:35927404..35931820-chr19:35937516..35944359,8	MCF-7	breast:
6	chr19:35927284..35930618-chr19:35941279..35944054,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232680	TF binding region
ENSG00000126262	Chromatin interaction
ENSG00000161249	Chromatin interaction
ENSG00000233214	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12610627	0.84[EUR][1000 genomes]
rs12979319	0.82[EUR][1000 genomes]
rs17304632	0.96[ASN][1000 genomes]
rs34020756	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34759383	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35776741	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35863509	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS 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	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35912600-35938000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:35920600-35930000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:35923800-35930000	Enhancers	Fetal Muscle Leg	muscle
4	chr19:35924400-35928600	Enhancers	Fetal Kidney	kidney
5	chr19:35924400-35929600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:35924800-35927600	Enhancers	Fetal Heart	heart
7	chr19:35925200-35927600	Enhancers	Stomach Mucosa	stomach
8	chr19:35925400-35929600	Enhancers	Fetal Intestine Large	intestine
9	chr19:35925600-35927600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:35925600-35927600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr19:35925600-35927800	Enhancers	Brain Anterior Caudate	brain
12	chr19:35925600-35927800	Weak transcription	Spleen	Spleen
13	chr19:35925600-35928200	Enhancers	Brain Cingulate Gyrus	brain
14	chr19:35925600-35928800	Enhancers	Fetal Intestine Small	intestine
15	chr19:35925600-35930000	Enhancers	Fetal Stomach	stomach
16	chr19:35926000-35927600	Weak transcription	Right Atrium	heart
17	chr19:35926000-35928800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr19:35926000-35929000	Enhancers	Small Intestine	intestine
19	chr19:35926200-35927800	Enhancers	Colonic Mucosa	Colon
20	chr19:35926200-35928000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr19:35926200-35928600	Enhancers	Liver	Liver
22	chr19:35926200-35929600	Enhancers	Lung	lung
23	chr19:35926200-35930000	Enhancers	Ovary	ovary
24	chr19:35926200-35930000	Enhancers	Pancreas	Pancrea
25	chr19:35926400-35928200	Enhancers	Colon Smooth Muscle	Colon
26	chr19:35926400-35928600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr19:35926400-35928600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr19:35926400-35928800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:35926400-35928800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr19:35926800-35927600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr19:35926800-35927800	Enhancers	Placenta	Placenta
32	chr19:35926800-35928000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:35926800-35928000	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:35926800-35928000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr19:35926800-35928000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:35926800-35928000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:35926800-35928200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:35926800-35928200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:35926800-35928400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr19:35926800-35928400	Enhancers	Fetal Brain Male	brain
41	chr19:35926800-35928400	Enhancers	Gastric	stomach
42	chr19:35926800-35928800	Enhancers	Esophagus	oesophagus
43	chr19:35926800-35928800	Enhancers	Left Ventricle	heart
44	chr19:35926800-35929600	Enhancers	Right Ventricle	heart
45	chr19:35927000-35927600	Enhancers	Hela-S3	cervix
46	chr19:35927000-35927800	Flanking Active TSS	GM12878-XiMat	blood
47	chr19:35927000-35927800	Bivalent Enhancer	HepG2	liver
48	chr19:35927000-35928000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr19:35927000-35928000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr19:35927000-35928000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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