Variant report

Variant	rs7111957
Chromosome Location	chr11:47409212-47409213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47400738..47402278-chr11:47408307..47410990,2	MCF-7	breast:
2	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
3	chr11:47399283..47402217-chr11:47408896..47411189,2	K562	blood:
4	chr11:47408757..47411550-chr11:47413345..47415143,3	K562	blood:
5	chr11:47408738..47410572-chr11:47416000..47417788,3	K562	blood:

Variant related genes	Relation type
ENSG00000255197	Chromatin interaction
ENSG00000066336	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10734557	0.80[EUR][1000 genomes]
rs10742803	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10769258	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10769262	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10838698	0.82[EUR][1000 genomes]
rs10838699	0.82[EUR][1000 genomes]
rs10838704	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10838706	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11039203	0.82[EUR][1000 genomes]
rs11039212	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11039219	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11600581	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11601603	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11605672	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11607981	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12146565	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12802273	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12803525	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1317164	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2053979	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2053980	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2084946	0.81[EUR][1000 genomes]
rs2293577	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2293578	0.80[EUR][1000 genomes]
rs2293580	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35496532	0.82[AMR][1000 genomes]
rs35996350	0.82[EUR][1000 genomes]
rs3781624	0.81[AMR][1000 genomes]
rs3781625	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3781626	0.84[EUR][1000 genomes]
rs4752827	0.83[EUR][1000 genomes]
rs4752832	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4752987	0.82[EUR][1000 genomes]
rs4752990	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752993	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752994	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752999	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4992357	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55677087	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55876153	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55927797	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56030824	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58965622	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60075622	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6485753	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6485756	0.85[EUR][1000 genomes]
rs67116452	0.82[EUR][1000 genomes]
rs67472071	0.82[EUR][1000 genomes]
rs7105851	0.82[EUR][1000 genomes]
rs7107726	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs755553	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs755554	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs755555	0.81[EUR][1000 genomes]
rs7924485	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7928163	0.83[EUR][1000 genomes]
rs7937331	0.84[EUR][1000 genomes]
rs7940536	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs896815	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs896816	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs935914	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7111957	C1QTNF4	cis	Muscle Skeletal	GTEx
rs7111957	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL
rs7111957	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs7111957	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs7111957	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47395200-47410000	Weak transcription	Gastric	stomach
2	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:47400000-47410000	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:47400000-47415200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:47400000-47416000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:47400000-47416800	Weak transcription	Brain Anterior Caudate	brain
8	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:47400600-47409800	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:47402600-47409400	Weak transcription	Esophagus	oesophagus
11	chr11:47404400-47412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:47404800-47409400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:47405000-47410600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:47405000-47412800	Weak transcription	K562	blood
15	chr11:47405200-47409800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:47405400-47409400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47405400-47409400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47405400-47409600	Weak transcription	Adipose Nuclei	Adipose
19	chr11:47405400-47409600	Weak transcription	Placenta	Placenta
20	chr11:47405400-47415000	Weak transcription	Right Atrium	heart
21	chr11:47405600-47409800	Weak transcription	Primary B cells from cord blood	blood
22	chr11:47407200-47410000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:47407600-47410000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:47408400-47418000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:47408600-47410400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:47408600-47416000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:47409000-47409800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:47409200-47417800	Enhancers	Spleen	Spleen

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