Variant report

Variant	rs3847544
Chromosome Location	chr11:92580194-92580195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:92578278..92580510-chr11:92603821..92605505,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10765565	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10765566	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10765567	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10765568	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10830952	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11020072	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020079	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020080	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020082	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789219	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12789841	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34321934	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34508481	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3847540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847541	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101614	0.91[EUR][1000 genomes]
rs7118363	0.91[EUR][1000 genomes]
rs7939598	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv1043861	chr11:92357570-92689868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1044571	chr11:92495213-92742314	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3847544	SRSF8	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92572400-92582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:92572600-92580800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:92572800-92584400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:92573600-92586400	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:92574400-92586000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:92574800-92580200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:92575000-92581400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:92577200-92580600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:92577800-92589600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:92577800-92592000	Weak transcription	Aorta	Aorta
11	chr11:92578000-92580800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:92578000-92586200	Weak transcription	Lung	lung
13	chr11:92578000-92590200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:92578200-92580400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:92578200-92587400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:92578200-92592000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:92578200-92598600	Weak transcription	Fetal Brain Male	brain
18	chr11:92578600-92582600	Weak transcription	Brain Angular Gyrus	brain
19	chr11:92578600-92586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:92578600-92592200	Weak transcription	Fetal Brain Female	brain
21	chr11:92578800-92581000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:92578800-92584800	Weak transcription	Fetal Kidney	kidney
23	chr11:92578800-92586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:92579000-92586200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:92579000-92586200	Weak transcription	Fetal Lung	lung
26	chr11:92579200-92580200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:92579400-92580200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:92579400-92580600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:92579400-92583000	Weak transcription	Fetal Thymus	thymus
30	chr11:92579800-92580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:92579800-92581200	Weak transcription	Colonic Mucosa	Colon
32	chr11:92579800-92583800	Weak transcription	Fetal Stomach	stomach
33	chr11:92579800-92585400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:92579800-92585800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:92579800-92588400	Weak transcription	NHLF	lung
36	chr11:92579800-92592600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:92580000-92581600	Weak transcription	NHEK	skin
38	chr11:92580000-92582200	Weak transcription	HMEC	breast
39	chr11:92580000-92585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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