Variant report

Variant	rs1983124
Chromosome Location	chr11:18618400-18618401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18608159..18612115-chr11:18615596..18618860,5	MCF-7	breast:
2	chr11:18616692..18618721-chr11:18623253..18625857,2	MCF-7	breast:
3	chr11:18608525..18612049-chr11:18615119..18618882,10	MCF-7	breast:
4	chr11:18618133..18619654-chr11:18626232..18627753,2	K562	blood:

Variant related genes	Relation type
ENSG00000247595	Chromatin interaction
ENSG00000151116	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10500835	0.95[JPT][hapmap]
rs11024677	0.95[JPT][hapmap]
rs11024688	0.95[JPT][hapmap]
rs11024715	0.95[JPT][hapmap]
rs11024727	0.81[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11024728	0.86[ASN][1000 genomes]
rs12222154	0.95[JPT][hapmap]
rs12289223	0.95[JPT][hapmap]
rs12421394	0.95[JPT][hapmap]
rs16935541	0.95[JPT][hapmap]
rs16935559	0.95[JPT][hapmap]
rs16935575	0.95[JPT][hapmap]
rs1979051	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2121387	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279902	0.95[JPT][hapmap]
rs2292179	0.95[JPT][hapmap]
rs3781640	0.95[JPT][hapmap]
rs4436523	0.87[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6416020	0.94[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7105387	0.84[ASN][1000 genomes]
rs72881309	0.86[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1983124	UEVLD	cis	cerebellum	SCAN
rs1983124	TSG101	cis	lymphoblastoid	seeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

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	chr11:18611600-18627200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:18611600-18627200	Weak transcription	Brain Germinal Matrix	brain
8	chr11:18611600-18629200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:18611600-18629600	Weak transcription	Fetal Kidney	kidney
10	chr11:18611800-18621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:18611800-18627200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:18612000-18629600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:18612000-18630800	Weak transcription	Colonic Mucosa	Colon
15	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:18612200-18629800	Weak transcription	HUVEC	blood vessel
17	chr11:18612400-18627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:18612400-18631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:18612800-18628800	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:18612800-18629600	Weak transcription	Stomach Mucosa	stomach
22	chr11:18612800-18630800	Weak transcription	HSMMtube	muscle
23	chr11:18613000-18619200	Weak transcription	Fetal Heart	heart
24	chr11:18613000-18628800	Weak transcription	K562	blood
25	chr11:18614200-18627400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:18614600-18631000	Weak transcription	HepG2	liver
27	chr11:18616000-18618600	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:18616400-18618600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:18616400-18618600	Strong transcription	Fetal Stomach	stomach
30	chr11:18616600-18618400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:18616600-18618600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:18616600-18618600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:18616600-18618600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:18616600-18618600	Strong transcription	Lung	lung
35	chr11:18616600-18618600	Strong transcription	A549	lung
36	chr11:18616600-18619000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:18616800-18618600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:18616800-18618600	Strong transcription	Ovary	ovary
39	chr11:18617000-18618400	Strong transcription	Pancreas	Pancrea
40	chr11:18617000-18618600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:18617000-18618600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:18617000-18618600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:18617200-18618400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:18617200-18618400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:18617200-18618400	Strong transcription	Brain Hippocampus Middle	brain
46	chr11:18617200-18618400	Strong transcription	Fetal Brain Female	brain
47	chr11:18617200-18618400	Strong transcription	Spleen	Spleen
48	chr11:18617200-18618400	Strong transcription	NHLF	lung
49	chr11:18617200-18618600	Strong transcription	Fetal Intestine Small	intestine
50	chr11:18617200-18618600	Strong transcription	Rectal Mucosa Donor 31	rectum

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