Variant report

Variant	rs72908248
Chromosome Location	chr2:173760431-173760432
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	GATA3	chr2:173760370-173761020	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr2:173757545-173762153	SK-N-SH	brain:	n/a	chr2:173760606-173760614 chr2:173757682-173757696 chr2:173760509-173760519 chr2:173760469-173760478

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173754492..173757153-chr2:173759642..173761802,2	K562	blood:

Variant related genes	Relation type
ALDH7A1P2	TF binding region
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10514633	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1104635	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17704262	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17704332	0.90[EUR][1000 genomes]
rs17704976	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705358	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705390	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705429	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705626	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705834	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17705852	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17706174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17706349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17706854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17706880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755063	0.90[EUR][1000 genomes]
rs17755348	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756405	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756703	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756834	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17756942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17757877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900203	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900214	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900223	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900226	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900228	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900229	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900230	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72900235	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72900240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900248	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902287	0.90[EUR][1000 genomes]
rs72902296	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72906101	0.83[AMR][1000 genomes]
rs72906193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908114	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908118	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908120	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908147	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908174	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908191	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908195	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908196	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908198	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908199	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72908213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908218	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72908222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72908226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72908230	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908285	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs951314	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs951315	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173756400-173760800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:173757400-173763200	Weak transcription	Left Ventricle	heart
3	chr2:173757600-173763400	Weak transcription	Right Atrium	heart
4	chr2:173758000-173761200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:173758400-173761200	Enhancers	Brain Germinal Matrix	brain
6	chr2:173758600-173763000	Weak transcription	Lung	lung
7	chr2:173758800-173760800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:173759000-173764400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:173759000-173770600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:173759200-173761200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:173760000-173764000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:173760200-173761400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:173760400-173761800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr2:173760400-173762000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:173760400-173762200	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links