Variant report

Variant	rs1522618
Chromosome Location	chr1:77332627-77332628
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	chr1:77331075-77332681	SK-N-SH	brain:	n/a	chr1:77331266-77331274 chr1:77332466-77332483

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77326930..77328743-chr1:77330284..77333050,4	K562	blood:

Variant related genes	Relation type
ST6GALNAC5	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1252583	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1252587	0.91[EUR][1000 genomes]
rs1269004	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1403243	0.82[ASW][hapmap];0.87[LWK][hapmap];0.83[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1718919	0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1718921	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1949697	0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2350527	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4271261	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4949643	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74089800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74089801	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9660631	0.83[TSI][hapmap];0.96[EUR][1000 genomes]
rs9661207	0.96[EUR][1000 genomes]
rs9726090	0.84[AMR][1000 genomes];0.96[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	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1003386	chr1:77305197-77375536	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv820187	chr1:77331722-77334433	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77319800-77333200	Weak transcription	Gastric	stomach
2	chr1:77320400-77333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:77329600-77332800	Enhancers	HSMMtube	muscle
4	chr1:77330200-77332800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:77330600-77332800	Weak transcription	NH-A	brain
6	chr1:77330800-77332800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:77331000-77332800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:77331400-77332800	Enhancers	Fetal Brain Female	brain
9	chr1:77331800-77333200	Active TSS	Stomach Smooth Muscle	stomach
10	chr1:77332000-77332800	Weak transcription	Aorta	Aorta
11	chr1:77332000-77332800	Weak transcription	Ovary	ovary
12	chr1:77332000-77332800	Weak transcription	HSMM	muscle
13	chr1:77332200-77332800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:77332200-77333000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:77332200-77335800	Active TSS	Brain Anterior Caudate	brain
16	chr1:77332400-77332800	Enhancers	Brain Germinal Matrix	brain
17	chr1:77332600-77332800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr1:77332600-77332800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:77332600-77332800	Enhancers	Fetal Brain Male	brain
20	chr1:77332600-77334400	Active TSS	Cortex derived primary cultured neurospheres	brain

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