Variant report

Variant	rs57845616
Chromosome Location	chr4:8494089-8494090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8481028..8483192-chr4:8493835..8495709,2	K562	blood:
2	chr4:8493970..8498267-chr4:8498833..8501951,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10025940	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842325	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842333	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2386224	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57229672	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59477910	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62287388	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62287389	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447869	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6830523	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6849528	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6852348	0.82[AMR][1000 genomes]
rs6855235	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686550	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:8478000-8500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:8479200-8501400	Weak transcription	Liver	Liver
4	chr4:8479800-8494600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:8480200-8498400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:8480200-8501400	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:8480600-8498200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:8480800-8497400	Weak transcription	Spleen	Spleen
9	chr4:8481400-8495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:8481400-8496800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:8481400-8501400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:8481800-8497400	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:8482200-8495000	Weak transcription	Brain Germinal Matrix	brain
14	chr4:8482200-8501400	Weak transcription	Primary T cells from cord blood	blood
15	chr4:8483800-8494400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:8484200-8497000	Weak transcription	Placenta	Placenta
17	chr4:8491000-8494600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:8491000-8495000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:8491000-8495200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:8491000-8496600	Weak transcription	Lung	lung
21	chr4:8491000-8497600	Weak transcription	Ovary	ovary
22	chr4:8491000-8501400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:8491000-8505200	Weak transcription	Fetal Brain Female	brain
24	chr4:8491200-8494600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:8491200-8495000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:8491200-8495000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:8492000-8494800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:8492000-8498800	Weak transcription	Fetal Stomach	stomach
29	chr4:8492000-8499600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:8493200-8496800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links