Variant report

Variant	rs2273834
Chromosome Location	chr1:47691090-47691091
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	SUZ12	chr1:47689128-47692812	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:47689877-47691312	K562	blood:	n/a	n/a
3	MAX	chr1:47691048-47691420	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:47690879-47691911	HUVEC	blood vessel:	n/a	n/a
5	SUZ12	chr1:47690359-47692871	NT2-D1	testis:	n/a	n/a
6	CTBP2	chr1:47690214-47691687	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr1:47690967-47691314	K562	blood:	n/a	n/a
8	MAX	chr1:47690601-47691791	HepG2	liver:	n/a	chr1:47690915-47690925
9	POLR2A	chr1:47689763-47691090	K562	blood:	n/a	n/a
10	ZBTB7A	chr1:47690739-47691568	ECC-1	luminal epithelium:	n/a	chr1:47691058-47691069
11	POLR2A	chr1:47689981-47694069	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000226252	TF binding region
TAL1	TF binding region

rs_ID	r²[population]
rs2249665	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2250380	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2758742	0.84[ASN][1000 genomes]
rs2798349	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs741958	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47689800-47691200	Bivalent Enhancer	Left Ventricle	heart
2	chr1:47689800-47696600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:47690000-47692200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:47690000-47697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:47690200-47696800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:47690400-47691200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr1:47690400-47691200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr1:47690400-47691200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:47690400-47691200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:47690400-47691400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:47690400-47691400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr1:47690400-47691400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr1:47690400-47691400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr1:47690400-47691400	Bivalent Enhancer	Placenta	Placenta
15	chr1:47690400-47691400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr1:47690400-47691400	Bivalent/Poised TSS	HSMM	muscle
17	chr1:47690400-47691600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr1:47690400-47691800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:47690400-47692000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:47690400-47692000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr1:47690400-47692400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr1:47690400-47693600	Enhancers	Spleen	Spleen
23	chr1:47690600-47691200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:47690600-47691200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:47690600-47691200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:47690600-47691200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
27	chr1:47690600-47691200	Bivalent Enhancer	HMEC	breast
28	chr1:47690600-47691400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
29	chr1:47690600-47691400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
30	chr1:47690600-47691600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
31	chr1:47690600-47691600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr1:47690600-47691800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr1:47690600-47691800	Bivalent Enhancer	Fetal Brain Male	brain
34	chr1:47690600-47692200	Bivalent Enhancer	Esophagus	oesophagus
35	chr1:47690800-47691200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:47690800-47691200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:47690800-47691200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:47690800-47691200	Bivalent Enhancer	HSMMtube	muscle
39	chr1:47690800-47691400	Active TSS	Primary hematopoietic stem cells	blood
40	chr1:47690800-47691600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:47690800-47691600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:47690800-47691600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:47690800-47691600	Flanking Active TSS	Pancreas	Pancrea
44	chr1:47690800-47691800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:47690800-47692200	Bivalent Enhancer	Liver	Liver
46	chr1:47690800-47692400	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr1:47691000-47691200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr1:47691000-47691200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:47691000-47691200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:47691000-47691200	Bivalent Enhancer	Colonic Mucosa	Colon

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