Variant report

Variant	rs73508114
Chromosome Location	chr11:68385915-68385916
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	POLR2A	chr11:68382713-68386140	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:68385201-68385948	U87	brain:	n/a	n/a
3	POLR2A	chr11:68385634-68386026	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:68385431-68386149	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:68384578-68386199	GM12891	blood:	n/a	n/a
6	FOSL2	chr11:68385151-68386221	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:68383103-68386235	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:68382207-68386019	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:68384544-68386220	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr11:68384158-68386213	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:68385167-68386217	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:68383179-68386648	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr11:68385177-68386180	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:68385318-68386129	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:68385882-68386330	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:68385133-68386131	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:68385790-68386190	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:68384573-68386226	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:68385810-68386100	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:68385418-68386107	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:68385860-68385998	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68384764..68386357-chr11:68530700..68532793,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266854	TF binding region
ENSG00000260808	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2510394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58494027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58981121	1.00[AFR][1000 genomes]
rs59010692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61218296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61387988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506207	1.00[AMR][1000 genomes]
rs73506270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508108	1.00[AMR][1000 genomes]
rs73516848	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516850	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516855	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516865	1.00[AMR][1000 genomes]
rs73516880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv897864	chr11:68367007-68453429	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68380800-68391200	Weak transcription	K562	blood
2	chr11:68382600-68386000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:68383000-68387200	Weak transcription	HepG2	liver
4	chr11:68383400-68387400	Weak transcription	Ovary	ovary
5	chr11:68383600-68386400	Weak transcription	HUVEC	blood vessel
6	chr11:68383800-68386000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:68383800-68386000	Weak transcription	Colonic Mucosa	Colon
8	chr11:68383800-68386000	Weak transcription	Fetal Thymus	thymus
9	chr11:68383800-68386200	Weak transcription	Dnd41	blood
10	chr11:68383800-68386400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:68383800-68386600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:68383800-68386800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:68383800-68386800	Weak transcription	NHEK	skin
14	chr11:68384000-68386400	Weak transcription	NH-A	brain
15	chr11:68384000-68386600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:68384000-68387200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:68384200-68386000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:68384200-68386000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:68384200-68386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:68384200-68389000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:68384200-68389400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:68384400-68386000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:68384400-68386000	Weak transcription	Primary T cells from cord blood	blood
24	chr11:68384400-68386000	Weak transcription	Adipose Nuclei	Adipose
25	chr11:68384400-68386000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:68384400-68386000	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:68384400-68386000	Weak transcription	Thymus	Thymus
28	chr11:68384400-68386200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:68384400-68386200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:68384400-68386200	Weak transcription	Left Ventricle	heart
31	chr11:68384400-68386400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:68384400-68386400	Weak transcription	Fetal Brain Female	brain
33	chr11:68384400-68386600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:68384400-68386600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:68384400-68386600	Weak transcription	NHLF	lung
36	chr11:68384400-68387200	Weak transcription	HSMMtube	muscle
37	chr11:68384400-68387400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:68384400-68387400	Weak transcription	Esophagus	oesophagus
39	chr11:68384400-68387400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:68384400-68387600	Weak transcription	Spleen	Spleen
41	chr11:68384600-68386200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:68384600-68386600	Weak transcription	HSMM	muscle
43	chr11:68384600-68387200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:68384600-68387400	Weak transcription	Primary B cells from cord blood	blood
45	chr11:68384800-68387600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:68385400-68387000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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