Variant report

Variant	rs3759798
Chromosome Location	chr15:41135663-41135664
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	POLR2A	chr15:41135422-41137445	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:41135645-41137310	MCF-7	breast:	n/a	n/a
3	POLR2A	chr15:41135393-41136741	MCF10A-Er-Src	breast:	n/a	n/a
4	SIN3AK20	chr15:41135661-41136335	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr15:41135442-41137369	HCT-116	colon:	n/a	chr15:41136188-41136198 chr15:41136185-41136194
6	ZEB1	chr15:41135616-41136871	HepG2	liver:	n/a	chr15:41135832-41135843 chr15:41136372-41136379 chr15:41136370-41136379 chr15:41136646-41136657
7	POLR2A	chr15:41135481-41137236	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr15:41135431-41136071	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr15:41135464-41135997	ECC-1	luminal epithelium:	n/a	n/a
10	ZEB1	chr15:41135490-41137303	GM12878	blood:	n/a	chr15:41135832-41135843 chr15:41136372-41136379 chr15:41136370-41136379 chr15:41136646-41136657
11	POLR2A	chr15:41135629-41135663	K562	blood:	n/a	n/a
12	SIN3A	chr15:41135543-41137347	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41131767..41134219-chr15:41134403..41136032,2	MCF-7	breast:
2	chr15:41098435..41103357-chr15:41133527..41139132,10	MCF-7	breast:
3	chr15:41134365..41142873-chr15:41160505..41167459,15	MCF-7	breast:
4	chr15:41135079..41139908-chr15:41161283..41167324,7	MCF-7	breast:
5	chr15:41050847..41052798-chr15:41135268..41136987,2	K562	blood:
6	chr15:41120065..41123435-chr15:41135561..41137302,3	MCF-7	breast:
7	chr15:41099271..41102222-chr15:41135281..41137187,2	K562	blood:
8	chr15:41135632..41136132-chr6:117803609..117804174,2	HCT-116	colon:
9	chr15:41098123..41102222-chr15:41134582..41138137,4	K562	blood:
10	chr15:41135103..41140677-chr15:41182913..41189081,12	MCF-7	breast:
11	chr15:41129275..41132805-chr15:41134409..41137816,5	MCF-7	breast:
12	chr15:40985736..40987452-chr15:41134754..41137017,2	MCF-7	breast:
13	chr15:41095442..41103026-chr15:41134658..41140625,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261183	TF binding region
SPINT1	TF binding region
ENSG00000104142	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000271236	Chromatin interaction
ENSG00000166143	Chromatin interaction
ENSG00000051180	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000164465	Chromatin interaction
ENSG00000245849	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000261183	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2291618	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59831883	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs622538	0.98[ASN][1000 genomes]
rs680493	0.98[ASN][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	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41112000-41135800	Weak transcription	Right Atrium	heart
2	chr15:41135000-41135800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:41135000-41135800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:41135000-41135800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr15:41135000-41135800	Flanking Active TSS	NHEK	skin
6	chr15:41135200-41135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:41135200-41135800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:41135200-41135800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
9	chr15:41135200-41135800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:41135200-41136000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:41135200-41136000	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr15:41135200-41136000	Flanking Active TSS	Stomach Mucosa	stomach
13	chr15:41135200-41136000	Flanking Active TSS	HMEC	breast
14	chr15:41135200-41137800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr15:41135200-41138800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr15:41135200-41139000	Active TSS	Fetal Kidney	kidney
17	chr15:41135400-41135800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr15:41135400-41135800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr15:41135400-41135800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:41135400-41135800	Enhancers	Primary B cells from cord blood	blood
21	chr15:41135400-41135800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:41135400-41135800	Flanking Active TSS	Esophagus	oesophagus
23	chr15:41135400-41135800	Bivalent Enhancer	Fetal Lung	lung
24	chr15:41135400-41135800	Flanking Active TSS	Lung	lung
25	chr15:41135400-41135800	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr15:41135400-41136000	Flanking Active TSS	Placenta	Placenta
27	chr15:41135400-41137000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:41135400-41137000	Active TSS	Duodenum Mucosa	Duodenum
29	chr15:41135400-41137400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:41135400-41137600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:41135600-41135800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr15:41135600-41135800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:41135600-41135800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:41135600-41135800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr15:41135600-41135800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:41135600-41135800	Enhancers	Primary B cells from peripheral blood	blood
37	chr15:41135600-41135800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr15:41135600-41135800	Active TSS	Primary hematopoietic stem cells	blood
39	chr15:41135600-41135800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr15:41135600-41135800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:41135600-41135800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:41135600-41135800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:41135600-41135800	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr15:41135600-41135800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr15:41135600-41135800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr15:41135600-41135800	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr15:41135600-41135800	Enhancers	Right Ventricle	heart
48	chr15:41135600-41135800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr15:41135600-41135800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr15:41135600-41135800	Bivalent/Poised TSS	GM12878-XiMat	blood

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