Variant report

Variant	rs7939833
Chromosome Location	chr11:100744198-100744199
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	chr11:100738487..100741101-chr11:100743408..100746316,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1074544	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11604197	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11605292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12792417	0.91[EUR][1000 genomes]
rs12798154	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17653373	0.99[EUR][1000 genomes]
rs17653824	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1941373	0.92[EUR][1000 genomes]
rs2197145	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34834193	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34877157	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34981694	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35174329	0.91[EUR][1000 genomes]
rs35997600	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7128526	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7927459	0.84[EUR][1000 genomes]
rs7943500	0.95[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats 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
rs7939833	BIRC2	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100720200-100745000	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:100722800-100746400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:100722800-100747200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:100733800-100746000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:100734200-100748400	Weak transcription	Left Ventricle	heart
6	chr11:100734400-100747400	Weak transcription	Adipose Nuclei	Adipose
7	chr11:100734400-100747600	Weak transcription	Fetal Stomach	stomach
8	chr11:100734400-100747600	Weak transcription	Right Atrium	heart
9	chr11:100737600-100745400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:100738200-100744200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:100741200-100744400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:100741200-100744600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:100741200-100745000	Weak transcription	Fetal Heart	heart
14	chr11:100741200-100747400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:100741400-100744800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:100741400-100750200	Weak transcription	K562	blood
17	chr11:100741600-100744400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:100741600-100748200	Weak transcription	Fetal Intestine Small	intestine
19	chr11:100743000-100748200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:100743200-100744600	Enhancers	Stomach Mucosa	stomach
21	chr11:100743200-100745400	Enhancers	NHLF	lung
22	chr11:100743200-100746800	Weak transcription	Spleen	Spleen
23	chr11:100743200-100749600	Enhancers	HSMM	muscle
24	chr11:100743400-100744600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:100743400-100744600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:100743400-100744800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:100743400-100744800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:100743400-100745000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:100743400-100745200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:100743400-100745400	Enhancers	Brain Germinal Matrix	brain
31	chr11:100743400-100747400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:100743600-100744200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:100743600-100744200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:100743600-100744200	Enhancers	HSMMtube	muscle
35	chr11:100743600-100744600	Enhancers	NH-A	brain
36	chr11:100743800-100744800	Enhancers	Osteobl	bone
37	chr11:100743800-100746000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:100744000-100744600	Enhancers	NHDF-Ad	bronchial

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