Variant report

Variant	rs61703751
Chromosome Location	chr11:86383876-86383877
allele	A/C
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	E2F6	chr11:86382527-86384015	A549	lung:	n/a	chr11:86382734-86382743 chr11:86383134-86383144 chr11:86383178-86383188
2	MAX	chr11:86382282-86384129	A549	lung:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
3	MAX	chr11:86382575-86383879	H1-hESC	embryonic stem cell:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
4	POLR2A	chr11:86382056-86384154	PANC-1	pancreas:	n/a	n/a
5	MAX	chr11:86382224-86384129	A549	lung:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
6	E2F6	chr11:86382632-86383937	H1-hESC	embryonic stem cell:	n/a	chr11:86382734-86382743 chr11:86383134-86383144 chr11:86383178-86383188
7	POLR2A	chr11:86382294-86383967	HUVEC	blood vessel:	n/a	n/a
8	GATA3	chr11:86382460-86384021	A549	lung:	n/a	chr11:86382648-86382656 chr11:86383333-86383341
9	MYC	chr11:86382330-86383959	A549	lung:	n/a	chr11:86383579-86383592 chr11:86383580-86383591 chr11:86383582-86383591 chr11:86383137-86383147 chr11:86383581-86383590 chr11:86383557-86383566 chr11:86383582-86383589 chr11:86383580-86383590
10	POLR2A	chr11:86381845-86384306	PANC-1	pancreas:	n/a	n/a
11	BCL3	chr11:86382853-86383904	A549	lung:	n/a	n/a
12	MXI1	chr11:86382352-86383890	IMR90	lung:	n/a	chr11:86383582-86383591

No.	Distal block	Cell Line	Cell type
1	chr11:86378621..86386201-chr11:86413884..86420246,14	MCF-7	breast:
2	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
3	chr11:86210913..86213504-chr11:86383764..86386048,2	MCF-7	breast:
4	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:

Variant related genes	Relation type
ME3	TF binding region
ENSG00000150687	Chromatin interaction
ENSG00000254731	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10898517	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898518	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11501849	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11530863	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11530882	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11560984	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12098937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155033	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4943950	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4943952	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944618	0.80[AMR][1000 genomes]
rs4944620	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944622	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs670736	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7120052	0.87[ASN][1000 genomes]
rs7123010	0.87[ASN][1000 genomes]
rs7935437	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7938344	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv555704	chr11:86344677-86386784	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86380600-86384400	Active TSS	Brain Angular Gyrus	brain
2	chr11:86380800-86384000	Active TSS	Fetal Brain Female	brain
3	chr11:86381000-86384400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:86381200-86384400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:86381400-86384600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr11:86382000-86384200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:86382600-86384000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:86382600-86384000	Active TSS	Primary T cells from cord blood	blood
9	chr11:86382600-86384800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr11:86382800-86384000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr11:86382800-86384200	Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr11:86383000-86384000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:86383200-86384000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
14	chr11:86383400-86384000	Flanking Active TSS	Colonic Mucosa	Colon
15	chr11:86383400-86384000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr11:86383400-86384000	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr11:86383400-86384000	Flanking Active TSS	HUVEC	blood vessel
18	chr11:86383400-86384000	Flanking Active TSS	NH-A	brain
19	chr11:86383400-86384200	Flanking Active TSS	NHLF	lung
20	chr11:86383400-86384400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:86383600-86384000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:86383600-86384000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:86383600-86384000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:86383600-86384000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr11:86383600-86384000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr11:86383600-86384000	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr11:86383600-86384000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr11:86383600-86384000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:86383600-86384000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:86383600-86384000	Flanking Active TSS	Fetal Brain Male	brain
31	chr11:86383600-86384000	Flanking Active TSS	A549	lung
32	chr11:86383600-86384200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr11:86383600-86384400	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr11:86383600-86384400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr11:86383600-86384400	Flanking Active TSS	Dnd41	blood
36	chr11:86383600-86384600	Enhancers	Spleen	Spleen
37	chr11:86383600-86385400	Enhancers	Hela-S3	cervix
38	chr11:86383800-86384000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
39	chr11:86383800-86384000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:86383800-86384000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:86383800-86384000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:86383800-86384000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr11:86383800-86384000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:86383800-86384000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:86383800-86384000	Enhancers	Brain Substantia Nigra	brain
46	chr11:86383800-86384000	Enhancers	Fetal Intestine Small	intestine
47	chr11:86383800-86384000	Enhancers	Fetal Kidney	kidney
48	chr11:86383800-86384000	Enhancers	Fetal Lung	lung
49	chr11:86383800-86384000	Flanking Active TSS	Fetal Stomach	stomach
50	chr11:86383800-86384000	Weak transcription	Gastric	stomach

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