Variant report

Variant	rs7927771
Chromosome Location	chr11:47781306-47781307
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	chr11:47777399..47779462-chr11:47781256..47782859,2	MCF-7	breast:
2	chr11:47777730..47779559-chr11:47781286..47784201,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1064608	1.00[CEU][hapmap]
rs10838738	1.00[CEU][hapmap]
rs10838747	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10838748	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10838757	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039308	0.80[ASN][1000 genomes]
rs11039324	0.82[ASN][1000 genomes]
rs11039342	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039348	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039355	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039389	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039390	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039391	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039416	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039426	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039433	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11602339	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11602395	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11604825	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11605774	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12361031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12364432	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12418852	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12419692	1.00[CEU][hapmap];0.80[ASN][1000 genomes]
rs12421210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12785833	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12787112	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12787330	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12787646	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12794570	0.95[CEU][hapmap];0.80[ASN][1000 genomes]
rs12798109	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12798346	1.00[CEU][hapmap]
rs12803191	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17788930	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290850	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34128973	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34910028	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34923397	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35805829	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35902101	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35985502	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3817334	0.85[CEU][hapmap];0.80[ASN][1000 genomes]
rs3817335	1.00[CEU][hapmap];0.80[ASN][1000 genomes]
rs4752797	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4752856	1.00[CEU][hapmap];0.80[ASN][1000 genomes]
rs4752857	1.00[CEU][hapmap];0.80[ASN][1000 genomes]
rs4752873	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59360790	0.82[ASN][1000 genomes]
rs7105282	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7120333	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7130758	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7947730	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9909	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7927771	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL
rs7927771	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs7927771	Hs.6637	cis	multi-tissue	Pritchard
rs7927771	C1QTNF4	cis	lung	GTEx
rs7927771	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs7927771	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx
rs7927771	C1QTNF4	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47737800-47782800	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr11:47737800-47785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:47737800-47786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:47737800-47786200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:47737800-47786200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr11:47737800-47786400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:47737800-47786400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:47737800-47786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:47737800-47786400	Strong transcription	Fetal Thymus	thymus
11	chr11:47737800-47786800	Strong transcription	Placenta	Placenta
12	chr11:47738000-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:47738000-47786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:47738000-47786400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:47738000-47786800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:47738200-47786400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:47738400-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47738600-47785800	Strong transcription	Dnd41	blood
19	chr11:47746200-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:47746400-47786200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:47747400-47786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:47747600-47786400	Strong transcription	Fetal Intestine Large	intestine
23	chr11:47747800-47786200	Strong transcription	A549	lung
24	chr11:47748000-47786000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:47748600-47786200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:47748600-47786200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:47748800-47786200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:47753400-47786400	Strong transcription	Liver	Liver
29	chr11:47753600-47786400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:47759200-47786200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:47759400-47785400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:47760600-47783200	Strong transcription	Fetal Lung	lung
33	chr11:47764800-47786200	Strong transcription	HSMM	muscle
34	chr11:47768000-47786600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:47769000-47787600	Weak transcription	Stomach Mucosa	stomach
36	chr11:47769600-47786000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:47776000-47787400	Weak transcription	Psoas Muscle	Psoas
38	chr11:47777200-47784000	Strong transcription	Primary B cells from cord blood	blood
39	chr11:47777400-47785200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:47777400-47786200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:47777400-47786200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:47777600-47786400	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:47777600-47786800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:47778000-47786200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:47778000-47786200	Strong transcription	Adipose Nuclei	Adipose
46	chr11:47778000-47786400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:47778200-47781400	Strong transcription	Fetal Kidney	kidney
48	chr11:47778400-47786800	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:47778400-47787000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:47778600-47781400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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