Variant report

Variant	rs2403268
Chromosome Location	chr11:10037003-10037004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10160515	0.83[ASN][1000 genomes]
rs10770080	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770085	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10770096	0.83[EUR][1000 genomes]
rs10840339	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840342	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042581	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042582	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11042598	0.82[EUR][1000 genomes]
rs12295754	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2403259	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403264	0.84[AFR][1000 genomes]
rs4309158	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4909918	0.81[ASN][1000 genomes]
rs4910089	0.81[ASN][1000 genomes]
rs6483883	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7102016	0.85[EUR][1000 genomes]
rs7120865	0.81[ASN][1000 genomes]
rs7126376	0.85[AFR][1000 genomes]
rs7128698	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7129239	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7924499	0.86[EUR][1000 genomes]
rs7928170	0.82[EUR][1000 genomes]
rs7942420	0.85[EUR][1000 genomes]
rs7947588	0.86[EUR][1000 genomes]
rs7950140	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896989	chr11:9951968-10059623	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv553475	chr11:10019879-10059623	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv553476	chr11:10024311-10117435	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2403268	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9981400-10051600	Weak transcription	Aorta	Aorta
2	chr11:9985800-10049000	Weak transcription	Left Ventricle	heart
3	chr11:9991200-10060000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:9994800-10041800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:10001400-10066200	Weak transcription	Pancreas	Pancrea
6	chr11:10004200-10048600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:10007600-10041800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:10010600-10051200	Weak transcription	Ovary	ovary
9	chr11:10012600-10049000	Weak transcription	Fetal Kidney	kidney
10	chr11:10024200-10047800	Weak transcription	Osteobl	bone
11	chr11:10024600-10041600	Weak transcription	HUVEC	blood vessel
12	chr11:10024800-10054000	Weak transcription	Hela-S3	cervix
13	chr11:10030400-10042600	Weak transcription	Fetal Lung	lung
14	chr11:10030600-10047000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:10030600-10051400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:10030600-10054000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:10030600-10065800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:10030800-10041800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:10032800-10049200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:10033200-10042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:10034000-10047000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:10034400-10047800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:10034600-10037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:10034600-10043200	Weak transcription	Fetal Intestine Large	intestine
25	chr11:10035000-10041400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:10035000-10041600	Weak transcription	Fetal Intestine Small	intestine
27	chr11:10035000-10041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:10035200-10041800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:10035200-10043200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:10035200-10065800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:10035400-10051200	Weak transcription	Psoas Muscle	Psoas
32	chr11:10035600-10044400	Weak transcription	NHDF-Ad	bronchial
33	chr11:10035800-10038400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:10035800-10041800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:10035800-10041800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:10035800-10052800	Weak transcription	Spleen	Spleen
37	chr11:10036000-10038000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:10036000-10049000	Weak transcription	Placenta	Placenta
39	chr11:10036000-10055600	Weak transcription	NHEK	skin
40	chr11:10036200-10047800	Weak transcription	NHLF	lung
41	chr11:10036200-10062800	Weak transcription	Adipose Nuclei	Adipose
42	chr11:10036400-10037600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:10036600-10037600	Strong transcription	Fetal Stomach	stomach
44	chr11:10036600-10038800	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:10036600-10040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:10036800-10038000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:10036800-10038200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:10036800-10038400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:10037000-10037400	ZNF genes & repeats	Liver	Liver

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