Variant report

Variant	rs616876
Chromosome Location	chr11:93491179-93491180
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	chr11:93471347..93475237-chr11:93486063..93491649,6	K562	blood:
2	chr11:93490567..93493533-chr11:93516830..93519053,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166012	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000042429	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10741476	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10765634	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10831102	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11020505	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020506	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020510	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11020521	0.88[EUR][1000 genomes]
rs11020522	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12292460	0.90[EUR][1000 genomes]
rs12803773	0.86[AFR][1000 genomes]
rs1284102	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1284108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1284141	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1428919	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1783938	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434978	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2434984	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2510603	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2848477	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3132750	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3132751	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4753103	0.91[EUR][1000 genomes]
rs56364420	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs585713	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs586293	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs588644	0.86[EUR][1000 genomes]
rs595650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598376	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs598427	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs601711	0.80[EUR][1000 genomes]
rs602242	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs606286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs606357	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs606462	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606749	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607615	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs611762	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618801	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622147	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs624856	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs625249	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs628661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs630811	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs631177	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640379	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs640382	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs640864	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs644009	0.86[EUR][1000 genomes]
rs644535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6483265	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs652621	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs652961	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs653939	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs655158	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs655699	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs658181	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs658698	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs658797	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs659877	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs662070	0.84[EUR][1000 genomes]
rs665507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666136	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs670871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673869	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs675441	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs675501	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs681321	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs688634	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs693947	0.90[EUR][1000 genomes]
rs7943266	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943525	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950574	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs616876	C11orf54	cis	Thyroid	GTEx
rs616876	C11orf54	cis	Artery Tibial	GTEx
rs616876	C11orf54	cis	Skin Sun Exposed Lower leg	GTEx
rs616876	C11orf54	cis	lung	GTEx
rs616876	C11orf54	cis	Artery Aorta	GTEx
rs616876	C11orf54	cis	Whole Blood	GTEx
rs616876	C11orf54	cis	multi-tissue	Pritchard
rs616876	C11orf54	cis	Esophagus Mucosa	GTEx
rs616876	C11orf54	cis	Nerve Tibial	GTEx
rs616876	C11orf54	cis	Heart Left Ventricle	GTEx
rs616876	C11orf54	cis	Stomach	GTEx
rs616876	C11orf54	Cis_1M	lymphoblastoid	RTeQTL
rs616876	C11orf54	cis	Adipose Subcutaneous	GTEx
rs616876	C11orf54	cis	Esophagus Muscularis	GTEx
rs616876	C11orf54	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93475200-93497000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93475600-93497000	Weak transcription	NHDF-Ad	bronchial
3	chr11:93476000-93491400	Weak transcription	Osteobl	bone
4	chr11:93476000-93495600	Weak transcription	HUVEC	blood vessel
5	chr11:93476000-93497000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:93476000-93497200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:93476000-93498800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:93476200-93499800	Weak transcription	NH-A	brain
9	chr11:93477000-93491200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:93477200-93491400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:93477200-93491400	Weak transcription	NHLF	lung
12	chr11:93478200-93498800	Weak transcription	Fetal Heart	heart
13	chr11:93478600-93498200	Weak transcription	Stomach Mucosa	stomach
14	chr11:93478800-93508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:93481400-93491400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:93482000-93499600	Weak transcription	NHEK	skin
17	chr11:93482400-93499200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:93482800-93498400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:93483000-93497800	Strong transcription	Liver	Liver
20	chr11:93483800-93494200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:93484800-93498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:93485000-93491800	Strong transcription	Fetal Stomach	stomach
23	chr11:93485000-93498600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr11:93485000-93499800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:93485200-93491400	Strong transcription	Fetal Intestine Large	intestine
26	chr11:93485200-93497200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:93485200-93497600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:93485400-93498600	Strong transcription	Fetal Thymus	thymus
29	chr11:93485600-93492000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:93486000-93499000	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:93486200-93497200	Weak transcription	Right Atrium	heart
32	chr11:93486600-93496000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:93486600-93497000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:93486600-93497000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:93486600-93497200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:93486600-93497800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:93486600-93498800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:93486600-93499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:93486600-93499000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:93486600-93499000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:93486800-93493800	Strong transcription	Dnd41	blood
42	chr11:93486800-93496200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:93486800-93496600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:93486800-93497000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:93486800-93497000	Strong transcription	Adipose Nuclei	Adipose
46	chr11:93486800-93497200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:93486800-93497200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:93486800-93497600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:93486800-93497800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:93486800-93497800	Strong transcription	Placenta	Placenta

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