Variant report

Variant	rs7105387
Chromosome Location	chr11:18616932-18616933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:18616815-18617553	IMR90	lung:	n/a	chr11:18616994-18617003
2	SIN3AK20	chr11:18616867-18617456	MCF-7	breast:	n/a	n/a
3	MXI1	chr11:18616715-18617435	SK-N-SH	brain:	n/a	chr11:18616994-18617003
4	RCOR1	chr11:18616383-18617743	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:18616924-18617324	IMR90	lung:	n/a	n/a
6	MAFK	chr11:18616913-18617281	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18608159..18612115-chr11:18615596..18618860,5	MCF-7	breast:
2	chr11:18615620..18618161-chr11:18620162..18622897,2	K562	blood:
3	chr11:18616692..18618721-chr11:18623253..18625857,2	MCF-7	breast:
4	chr11:18608525..18612049-chr11:18615119..18618882,10	MCF-7	breast:
5	chr11:18616067..18617811-chr11:18630289..18631863,2	K562	blood:

Variant related genes	Relation type
SPTY2D1-AS1	TF binding region
ENSG00000247595	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000256282	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11024725	0.81[ASN][1000 genomes]
rs11024726	0.81[ASN][1000 genomes]
rs11024727	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024728	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12289223	0.83[ASN][1000 genomes]
rs16935575	0.81[ASN][1000 genomes]
rs1979051	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1983124	0.84[ASN][1000 genomes]
rs4436523	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55969503	0.81[ASN][1000 genomes]
rs6416020	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72881309	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	esv2761651	chr11:18606832-18621409	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7105387	TSG101	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611000-18628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:18611200-18628600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:18611400-18627600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:18611600-18617200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:18611600-18617200	Weak transcription	Fetal Lung	lung
8	chr11:18611600-18627200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:18611600-18627200	Weak transcription	Brain Germinal Matrix	brain
10	chr11:18611600-18629200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:18611600-18629600	Weak transcription	Fetal Kidney	kidney
12	chr11:18611800-18617400	Weak transcription	Right Ventricle	heart
13	chr11:18611800-18621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:18611800-18627200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:18612000-18617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:18612000-18617200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:18612000-18617200	Weak transcription	Aorta	Aorta
19	chr11:18612000-18629600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:18612000-18630800	Weak transcription	Colonic Mucosa	Colon
21	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:18612200-18617000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:18612200-18617000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:18612200-18617200	Weak transcription	Fetal Brain Female	brain
25	chr11:18612200-18617200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:18612200-18629800	Weak transcription	HUVEC	blood vessel
27	chr11:18612400-18617000	Weak transcription	Left Ventricle	heart
28	chr11:18612400-18617000	Weak transcription	Pancreas	Pancrea
29	chr11:18612400-18617200	Weak transcription	NHLF	lung
30	chr11:18612400-18617400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:18612400-18627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:18612400-18631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:18612600-18617000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:18612600-18617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:18612600-18617200	Weak transcription	Liver	Liver
37	chr11:18612600-18617200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:18612600-18617200	Weak transcription	Spleen	Spleen
39	chr11:18612800-18617000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:18612800-18617000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:18612800-18617000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:18612800-18617200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:18612800-18617200	Weak transcription	Brain Substantia Nigra	brain
44	chr11:18612800-18617200	Weak transcription	HSMM	muscle
45	chr11:18612800-18617200	Weak transcription	Osteobl	bone
46	chr11:18612800-18617400	Weak transcription	Gastric	stomach
47	chr11:18612800-18628800	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:18612800-18629600	Weak transcription	Stomach Mucosa	stomach
49	chr11:18612800-18630800	Weak transcription	HSMMtube	muscle
50	chr11:18613000-18617200	Weak transcription	Duodenum Mucosa	Duodenum

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