Variant report

Variant	rs7939598
Chromosome Location	chr11:92572504-92572505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765566	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10765567	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10765568	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10830952	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020072	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020079	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020080	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020082	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12789219	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789841	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34321934	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34508481	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847540	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3847541	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3847544	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7101614	0.90[EUR][1000 genomes]
rs7118363	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	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
rs7939598	SRSF8	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92562200-92577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:92562600-92573800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:92562600-92578600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:92562800-92577800	Weak transcription	Fetal Brain Male	brain
5	chr11:92562800-92579000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:92563000-92576000	Weak transcription	Fetal Brain Female	brain
7	chr11:92563800-92572800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:92563800-92574600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:92564200-92573400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:92565800-92574800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:92565800-92577400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:92566000-92577000	Weak transcription	Brain Germinal Matrix	brain
13	chr11:92567800-92577400	Weak transcription	Brain Anterior Caudate	brain
14	chr11:92569000-92579000	Strong transcription	Fetal Lung	lung
15	chr11:92570400-92573200	Enhancers	NHEK	skin
16	chr11:92570400-92575600	Strong transcription	Aorta	Aorta
17	chr11:92570600-92573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:92570800-92574400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:92571000-92573400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:92571000-92574800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:92571200-92573400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:92571200-92579000	Weak transcription	Fetal Thymus	thymus
23	chr11:92571400-92574400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:92571600-92572600	Enhancers	Fetal Muscle Leg	muscle
25	chr11:92571600-92572800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:92571600-92572800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:92571600-92573000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:92571800-92572600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:92571800-92572600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:92571800-92572600	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:92571800-92572600	Genic enhancers	Fetal Stomach	stomach
32	chr11:92571800-92572800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:92571800-92572800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:92571800-92572800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:92571800-92572800	Enhancers	Fetal Kidney	kidney
36	chr11:92571800-92573000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:92571800-92573400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:92571800-92578400	Weak transcription	Brain Substantia Nigra	brain
39	chr11:92572200-92572600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr11:92572200-92573000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:92572400-92573800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:92572400-92574800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:92572400-92582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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