Variant report

Variant	rs7939762
Chromosome Location	chr11:100835688-100835689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11224533	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11224538	0.89[MEX][hapmap];0.87[YRI][hapmap]
rs11224540	0.81[AMR][1000 genomes]
rs1217265	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12364126	0.93[AFR][1000 genomes]
rs1944432	0.81[AFR][1000 genomes]
rs579847	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs581468	0.88[ASW][hapmap];0.84[LWK][hapmap]
rs581921	0.92[YRI][hapmap]
rs585288	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs594062	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs610055	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs622957	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs623600	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs626596	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs641582	0.82[EUR][1000 genomes]
rs6590829	1.00[LWK][hapmap];0.89[AFR][1000 genomes]
rs6590830	0.89[AFR][1000 genomes]
rs6590831	0.89[AFR][1000 genomes]
rs6590832	0.89[AFR][1000 genomes]
rs6590833	0.89[AFR][1000 genomes]
rs6590834	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs672030	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs672593	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs675395	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7110858	0.89[AFR][1000 genomes]
rs7122917	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7130581	0.89[AFR][1000 genomes]
rs7130586	0.83[AFR][1000 genomes]
rs7933033	1.00[LWK][hapmap];0.89[AFR][1000 genomes]
rs7939782	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7950572	0.89[AFR][1000 genomes]
rs7950832	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs7939762	BIRC2	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:100800200-100846600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:100800800-100835800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:100806600-100837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:100807800-100844600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:100808000-100846600	Weak transcription	Ovary	ovary
7	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
8	chr11:100810400-100845000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:100810600-100848400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:100812000-100841000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:100813000-100848600	Weak transcription	A549	lung
12	chr11:100813200-100838800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:100813200-100841400	Weak transcription	Fetal Stomach	stomach
14	chr11:100813200-100846600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:100820400-100841400	Weak transcription	Right Ventricle	heart
16	chr11:100820400-100847000	Weak transcription	Fetal Kidney	kidney
17	chr11:100827200-100840200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:100827400-100846600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:100828400-100845400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:100828600-100846400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:100828800-100849400	Weak transcription	NHLF	lung
22	chr11:100829000-100849400	Weak transcription	HMEC	breast
23	chr11:100829200-100846800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:100829600-100841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:100829600-100849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:100830000-100847600	Weak transcription	Psoas Muscle	Psoas
27	chr11:100830200-100838000	Strong transcription	Placenta	Placenta
28	chr11:100830400-100839000	Strong transcription	Liver	Liver
29	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
30	chr11:100831200-100836400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:100831200-100837000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:100831400-100836400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:100831800-100835800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr11:100831800-100836600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:100832000-100836400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:100832000-100836400	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:100832200-100849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:100832400-100836200	Strong transcription	Fetal Intestine Large	intestine
39	chr11:100832400-100836600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:100832400-100837000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:100832800-100836400	Strong transcription	HSMMtube	muscle
42	chr11:100833000-100839800	Weak transcription	Brain Anterior Caudate	brain
43	chr11:100833400-100836200	Strong transcription	Fetal Lung	lung
44	chr11:100833600-100835800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:100833800-100836400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:100834000-100847400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:100834200-100839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:100834200-100842800	Weak transcription	HSMM	muscle
49	chr11:100834400-100836000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:100834400-100836000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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