Variant report

Variant	rs11024674
Chromosome Location	chr11:18507858-18507859
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	RUNX3	chr11:18507497-18507874	GM12878	blood:	n/a	n/a
2	BCL3	chr11:18507479-18507913	GM12878	blood:	n/a	n/a
3	RELA	chr11:18507506-18507862	GM19099	blood:	n/a	n/a
4	POU2F2	chr11:18507539-18507950	GM12891	blood:	n/a	n/a
5	RELA	chr11:18507337-18508026	GM12891	blood:	n/a	n/a
6	RELA	chr11:18507496-18507983	GM12878	blood:	n/a	n/a
7	RUNX3	chr11:18507480-18507911	GM12878	blood:	n/a	n/a
8	WRNIP1	chr11:18507841-18507967	GM12878	blood:	n/a	n/a
9	RELA	chr11:18507464-18507891	GM10847	blood:	n/a	n/a
10	RELA	chr11:18507503-18507910	GM18951	blood:	n/a	n/a
11	RELA	chr11:18507493-18507994	GM19193	blood:	n/a	n/a

Variant related genes	Relation type
TSG101	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10219166	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10832938	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832942	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832943	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832945	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024670	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024671	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024675	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024676	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024678	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024679	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024683	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024685	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024689	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024695	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024696	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024706	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11024716	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024723	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11024724	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12049851	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12049909	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12049912	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12222210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223858	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12223887	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12225461	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12225463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290527	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12418726	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12419360	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12419592	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12420702	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12420882	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12421881	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12574333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12575390	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12577874	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803251	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16914838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16935504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271080	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2279900	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305166	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28607050	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3781639	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55964013	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55999230	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56097703	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56151250	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56151849	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56411332	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59032896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61882885	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882887	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61882903	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61882904	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61884677	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7108487	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7109314	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7130163	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72871737	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72876745	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7950602	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9633899	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	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	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	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
7	nsv467719	chr11:18447611-18542227	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv553634	chr11:18447611-18542227	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11024674	TSG101	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18483600-18526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:18494400-18508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:18496000-18508200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:18496000-18515200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:18496200-18508000	Strong transcription	Fetal Intestine Large	intestine
6	chr11:18496200-18508000	Strong transcription	Fetal Thymus	thymus
7	chr11:18496200-18508000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr11:18496200-18508200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:18496200-18513200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:18496200-18513400	Strong transcription	Fetal Muscle Leg	muscle
11	chr11:18496200-18538000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:18496200-18541200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:18496400-18508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:18496400-18508200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:18496400-18508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:18496400-18508200	Strong transcription	Liver	Liver
17	chr11:18496400-18510000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:18496400-18542000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:18496600-18540600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:18496600-18541000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:18496800-18509600	Strong transcription	HSMM	muscle
22	chr11:18497000-18511600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:18497000-18513200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:18497200-18513200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:18497600-18508200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:18497600-18513200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:18497800-18512200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:18498000-18508000	Strong transcription	Primary B cells from cord blood	blood
29	chr11:18498000-18508000	Strong transcription	Placenta	Placenta
30	chr11:18498400-18508000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:18498400-18512200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:18498800-18513600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:18499000-18508000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:18499000-18508400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:18499200-18508200	Strong transcription	NH-A	brain
36	chr11:18499400-18508000	Strong transcription	Fetal Lung	lung
37	chr11:18499400-18513400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:18499800-18508200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr11:18500000-18547000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:18501400-18508000	Strong transcription	HepG2	liver
41	chr11:18503000-18512200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:18503200-18512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:18503200-18516200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:18503600-18508000	Strong transcription	Hela-S3	cervix
45	chr11:18503800-18512400	Weak transcription	Psoas Muscle	Psoas
46	chr11:18504000-18509200	Weak transcription	HUVEC	blood vessel
47	chr11:18504000-18511000	Weak transcription	Fetal Kidney	kidney
48	chr11:18504000-18540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:18504200-18512200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:18504200-18522800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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