Variant report

Variant	rs283465
Chromosome Location	chr2:233666787-233666788
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	SPI1	chr2:233666777-233667152	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
GIGYF2	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1078323	0.92[EUR][1000 genomes]
rs11688166	0.85[EUR][1000 genomes]
rs11689851	0.85[EUR][1000 genomes]
rs12619195	0.80[EUR][1000 genomes]
rs12993791	0.93[EUR][1000 genomes]
rs13001052	0.92[EUR][1000 genomes]
rs13021823	0.91[EUR][1000 genomes]
rs17164	0.87[EUR][1000 genomes]
rs2289911	0.84[EUR][1000 genomes]
rs2344611	0.86[EUR][1000 genomes]
rs2344613	0.87[EUR][1000 genomes]
rs2592104	0.87[EUR][1000 genomes]
rs283467	0.91[EUR][1000 genomes]
rs283470	0.86[EUR][1000 genomes]
rs283487	0.90[EUR][1000 genomes]
rs34707169	0.91[EUR][1000 genomes]
rs35491427	0.93[EUR][1000 genomes]
rs4144795	0.83[EUR][1000 genomes]
rs4144797	0.82[EUR][1000 genomes]
rs62193271	0.85[EUR][1000 genomes]
rs6716488	0.87[EUR][1000 genomes]
rs71421665	1.00[ASN][1000 genomes]
rs7560115	0.83[EUR][1000 genomes]
rs921055	0.91[EUR][1000 genomes]
rs974321	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3427756	chr2:233661496-233680721	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233642000-233667200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:233648800-233666800	Strong transcription	HSMM	muscle
3	chr2:233648800-233668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:233649400-233667600	Strong transcription	Fetal Thymus	thymus
6	chr2:233649600-233666800	Strong transcription	HepG2	liver
7	chr2:233649800-233667000	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:233651200-233668000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:233651400-233668000	Strong transcription	Liver	Liver
10	chr2:233651800-233668000	Strong transcription	Dnd41	blood
11	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:233656600-233671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:233656800-233674000	Weak transcription	Fetal Heart	heart
14	chr2:233658000-233671200	Weak transcription	NHLF	lung
15	chr2:233658400-233671200	Weak transcription	Gastric	stomach
16	chr2:233658800-233671200	Weak transcription	Small Intestine	intestine
17	chr2:233659000-233671200	Weak transcription	Fetal Brain Male	brain
18	chr2:233659600-233671200	Weak transcription	Pancreas	Pancrea
19	chr2:233659600-233671600	Weak transcription	Spleen	Spleen
20	chr2:233659800-233671200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:233659800-233672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
23	chr2:233661000-233670200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:233661200-233671000	Weak transcription	NHDF-Ad	bronchial
25	chr2:233661200-233671200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:233661400-233671200	Weak transcription	Right Ventricle	heart
27	chr2:233661800-233670800	Weak transcription	Colonic Mucosa	Colon
28	chr2:233661800-233671000	Weak transcription	NHEK	skin
29	chr2:233661800-233671200	Weak transcription	Aorta	Aorta
30	chr2:233661800-233671200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:233662200-233670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:233662200-233671200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:233662200-233671200	Weak transcription	HSMMtube	muscle
34	chr2:233662200-233671200	Weak transcription	NH-A	brain
35	chr2:233662200-233671400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:233662200-233671400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:233662400-233670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:233662400-233671200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:233662400-233671200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:233662400-233671200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:233662400-233671200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:233662400-233672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:233662400-233672600	Weak transcription	K562	blood
44	chr2:233662600-233671200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:233662600-233679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:233662800-233670800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:233663000-233671000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:233663200-233671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:233663400-233669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:233663400-233670200	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links