Variant report

Variant	rs1550437
Chromosome Location	chr15:74221298-74221299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:74221280-74221430	HA-sp	spinal cord:	n/a	n/a
2	CTCF	chr15:74221200-74221350	HCFaa	heart:	n/a	n/a
3	MXI1	chr15:74217976-74222304	IMR90	lung:	n/a	n/a
4	POLR2A	chr15:74221128-74221526	U87	brain:	n/a	n/a
5	POLR2A	chr15:74221238-74221528	ProgFib	skin:	n/a	n/a
6	POLR2A	chr15:74221128-74221567	U87	brain:	n/a	n/a
7	POLR2A	chr15:74221179-74221725	MCF-7	breast:	n/a	n/a
8	POLR2A	chr15:74217872-74240199	U87	brain:	n/a	n/a
9	CHD1	chr15:74217903-74221545	IMR90	lung:	n/a	n/a
10	POLR2A	chr15:74215819-74242527	U87	brain:	n/a	n/a
11	CTCF	chr15:74221180-74221330	BJ	skin:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74163735..74170089-chr15:74218002..74222715,6	MCF-7	breast:
2	chr15:74190385..74192621-chr15:74220750..74222967,2	MCF-7	breast:
3	chr15:74220838..74222691-chr15:74242303..74245094,2	MCF-7	breast:

No data

Variant related genes	Relation type
LOXL1-AS1	TF binding region
ENSG00000167139	Chromatin interaction
ENSG00000260624	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1078967	1.00[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs28522673	0.81[EUR][1000 genomes]
rs3825942	1.00[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs6495085	0.85[EUR][1000 genomes]
rs74026308	0.81[EUR][1000 genomes]
rs8034017	0.85[EUR][1000 genomes]
rs8034403	0.85[EUR][1000 genomes]
rs8041642	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs8041685	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs8042039	1.00[CEU][hapmap];0.81[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	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1603	chr15:74191222-74235733	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74218600-74221400	Active TSS	HSMMtube	muscle
2	chr15:74218800-74221800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr15:74220200-74221800	Enhancers	Spleen	Spleen
4	chr15:74220400-74221800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:74220400-74222600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:74220400-74222800	Enhancers	Fetal Heart	heart
7	chr15:74220400-74223400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr15:74220400-74223400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:74220600-74221400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:74220600-74221400	Bivalent Enhancer	Thymus	Thymus
11	chr15:74220600-74221600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr15:74220600-74221600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:74220600-74221800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr15:74220600-74222000	Enhancers	Left Ventricle	heart
15	chr15:74220600-74222200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:74220600-74222600	Weak transcription	Ovary	ovary
17	chr15:74220600-74223400	Enhancers	Placenta	Placenta
18	chr15:74220800-74221400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr15:74220800-74221400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr15:74220800-74221400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr15:74220800-74221600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr15:74220800-74221600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:74220800-74221600	Bivalent Enhancer	Brain Anterior Caudate	brain
24	chr15:74220800-74221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:74220800-74221600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr15:74220800-74221600	Enhancers	Gastric	stomach
27	chr15:74220800-74221800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr15:74220800-74221800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:74220800-74221800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:74220800-74221800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr15:74220800-74221800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr15:74220800-74221800	Enhancers	Duodenum Mucosa	Duodenum
33	chr15:74220800-74221800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr15:74220800-74222000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr15:74220800-74222000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr15:74220800-74222000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:74220800-74222000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr15:74220800-74222000	Bivalent Enhancer	Colon Smooth Muscle	Colon
39	chr15:74220800-74222000	Enhancers	Stomach Mucosa	stomach
40	chr15:74220800-74222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:74220800-74222200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:74220800-74222200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr15:74220800-74222200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:74220800-74222200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:74220800-74222200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:74220800-74222200	Weak transcription	Esophagus	oesophagus
47	chr15:74220800-74222200	Weak transcription	HMEC	breast
48	chr15:74220800-74222200	Weak transcription	NHEK	skin
49	chr15:74220800-74222400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:74220800-74222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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