Variant report

Variant	rs368262250
Chromosome Location	chr11:62311031-62311032
allele	C/G
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	chr11:62310675-62311644	K562	blood:	n/a	n/a
2	MAX	chr11:62309970-62316873	A549	lung:	n/a	chr11:62312136-62312143 chr11:62313404-62313414 chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62315029-62315039 chr11:62311094-62311104 chr11:62316366-62316375
3	POLR2A	chr11:62310128-62311309	U87	brain:	n/a	n/a
4	POLR2A	chr11:62309566-62314891	Hela-S3	cervix:	n/a	n/a
5	MAX	chr11:62310131-62311235	K562	blood:	n/a	chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62311094-62311104
6	POLR2A	chr11:62309984-62315714	HUVEC	blood vessel:	n/a	n/a
7	SIN3AK20	chr11:62310673-62311164	A549	lung:	n/a	n/a
8	POLR2A	chr11:62310557-62311110	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:62309985-62314761	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:62309853-62314609	U87	brain:	n/a	n/a
11	POLR2A	chr11:62310702-62311073	A549	lung:	n/a	n/a
12	RAD21	chr11:62309941-62311178	HCT-116	colon:	n/a	chr11:62310404-62310414 chr11:62310784-62310796 chr11:62310626-62310639
13	SIN3AK20	chr11:62310077-62311405	PANC-1	pancreas:	n/a	n/a
14	MAX	chr11:62310115-62311690	MCF-7	breast:	n/a	chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62311094-62311104
15	CTCF	chr11:62309847-62311112	HCT-116	colon:	n/a	chr11:62311025-62311034 chr11:62309864-62309873
16	RAD21	chr11:62309334-62311061	SK-N-SH	brain:	n/a	chr11:62310404-62310414 chr11:62310784-62310796 chr11:62310626-62310639 chr11:62309670-62309683
17	POLR2A	chr11:62308122-62315675	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr11:62310085-62311612	HUVEC	blood vessel:	n/a	n/a
19	SMC3	chr11:62310080-62311049	Hela-S3	cervix:	n/a	n/a
20	JUN	chr11:62309914-62311556	K562	blood:	n/a	n/a
21	EBF1	chr11:62310210-62311296	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:62309542-62311457	A549	lung:	n/a	n/a
23	CHD1	chr11:62310213-62311032	GM12878	blood:	n/a	n/a
24	MXI1	chr11:62309801-62316378	IMR90	lung:	n/a	chr11:62311094-62311103 chr11:62311096-62311105
25	TEAD4	chr11:62310072-62311086	K562	blood:	n/a	n/a
26	CTCF	chr11:62310940-62311090	GM12867	blood:	n/a	chr11:62311025-62311034
27	RUNX3	chr11:62310606-62311067	GM12878	blood:	n/a	n/a
28	SMARCB1	chr11:62310051-62311089	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:62310315-62311082	Hela-S3	cervix:	n/a	n/a
30	SMC3	chr11:62309952-62311198	SK-N-SH	brain:	n/a	n/a
31	MAX	chr11:62310132-62311411	A549	lung:	n/a	chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62311094-62311104
32	MXI1	chr11:62310243-62311043	GM12878	blood:	n/a	n/a
33	CTCF	chr11:62309885-62311032	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr11:62310900-62311050	BJ	skin:	n/a	chr11:62311025-62311034
35	TCF12	chr11:62309836-62311580	A549	lung:	n/a	chr11:62311041-62311051 chr11:62309981-62309988 chr11:62310207-62310214
36	POLR2A	chr11:62310826-62311742	MCF-7	breast:	n/a	n/a
37	CBX3	chr11:62310151-62311068	K562	blood:	n/a	n/a
38	POLR2A	chr11:62310730-62311319	A549	lung:	n/a	n/a
39	MAX	chr11:62310173-62311067	NB4	blood:	n/a	chr11:62310437-62310446
40	MAZ	chr11:62309657-62311635	IMR90	lung:	n/a	chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62311094-62311104
41	CTCF	chr11:62310074-62311089	K562	blood:	n/a	chr11:62311025-62311034
42	POLR2A	chr11:62305310-62315726	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr11:62310753-62311073	GM12878	blood:	n/a	n/a
44	MTA3	chr11:62309826-62311092	GM12878	blood:	n/a	n/a
45	CTCF	chr11:62309965-62311207	A549	lung:	n/a	chr11:62311025-62311034
46	SMC3	chr11:62310189-62311046	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:62310128-62314443	U87	brain:	n/a	n/a
48	UBTF	chr11:62310230-62311032	K562	blood:	n/a	n/a
49	NR2F2	chr11:62310094-62311180	K562	blood:	n/a	n/a
50	BCL3	chr11:62309863-62311277	A549	lung:	n/a	chr11:62310548-62310557 chr11:62310096-62310105

No.	Distal block	Cell Line	Cell type
1	chr11:62280741..62283276-chr11:62309446..62312033,2	MCF-7	breast:
2	chr11:62310191..62312888-chr11:62358804..62361545,2	MCF-7	breast:
3	chr11:62274579..62277992-chr11:62305357..62311305,7	MCF-7	breast:
4	chr11:62162599..62164110-chr11:62310391..62312004,2	K562	blood:
5	chr11:62191932..62192983-chr11:62310101..62311482,6	MCF-7	breast:
6	chr11:62310407..62313306-chr11:62606623..62609508,2	MCF-7	breast:
7	chr11:62310047..62312919-chr11:62648924..62650473,2	K562	blood:
8	chr11:62310730..62313122-chr11:62436444..62438934,2	MCF-7	breast:
9	chr11:62162599..62165168-chr11:62309068..62312004,2	K562	blood:
10	chr11:62310601..62311437-chr11:62461858..62462386,2	K562	blood:
11	chr11:62196161..62199633-chr11:62307876..62311334,4	MCF-7	breast:
12	chr11:62309955..62311757-chr11:62327769..62328678,8	MCF-7	breast:
13	chr11:62263893..62266128-chr11:62309249..62311326,26	MCF-7	breast:
14	chr11:62189906..62192310-chr11:62310087..62312285,3	K562	blood:
15	chr11:62272391..62274377-chr11:62310109..62312238,2	MCF-7	breast:
16	chr11:62165780..62167539-chr11:62310095..62312002,2	K562	blood:
17	chr11:62193890..62196076-chr11:62309053..62312016,2	MCF-7	breast:
18	chr11:62310701..62316525-chr11:62336307..62345701,21	MCF-7	breast:
19	chr11:62201060..62204004-chr11:62310651..62312610,2	MCF-7	breast:
20	chr11:62161985..62164172-chr11:62309731..62311839,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257058	TF binding region
ENSG00000255446	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000168003	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
10	esv3430132	chr11:62310961-62311401	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62302400-62312400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:62302400-62315400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:62305600-62311200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:62305800-62311200	Transcr. at gene 5' and 3'	NHEK	skin
5	chr11:62305800-62311600	Enhancers	Pancreas	Pancrea
6	chr11:62305800-62312600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:62306400-62312200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:62307000-62311200	Flanking Active TSS	HMEC	breast
9	chr11:62307000-62311400	Flanking Active TSS	Osteobl	bone
10	chr11:62307000-62312200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:62307000-62312600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:62307000-62312600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:62307000-62313600	Flanking Active TSS	GM12878-XiMat	blood
14	chr11:62308000-62311600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:62308000-62313200	Transcr. at gene 5' and 3'	NHLF	lung
16	chr11:62308200-62311200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:62308200-62312200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:62308200-62312800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:62308200-62313000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:62308200-62313200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:62308400-62311200	Flanking Active TSS	Colonic Mucosa	Colon
22	chr11:62308400-62312200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:62308400-62313000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:62308400-62313400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr11:62308600-62313200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
26	chr11:62309000-62314000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
27	chr11:62309200-62311200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:62309400-62311400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
29	chr11:62309400-62312200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:62309600-62312200	Flanking Active TSS	Right Ventricle	heart
31	chr11:62309600-62312600	Flanking Active TSS	Hela-S3	cervix
32	chr11:62309600-62313200	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr11:62309800-62311200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:62309800-62312000	Active TSS	Psoas Muscle	Psoas
35	chr11:62309800-62312400	Flanking Active TSS	Fetal Heart	heart
36	chr11:62309800-62312400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr11:62309800-62313200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:62309800-62313400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr11:62309800-62315400	Active TSS	Aorta	Aorta
40	chr11:62310000-62311200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr11:62310000-62311200	Flanking Active TSS	Fetal Lung	lung
42	chr11:62310000-62311200	Flanking Active TSS	K562	blood
43	chr11:62310000-62311400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:62310000-62311400	Flanking Active TSS	Lung	lung
45	chr11:62310000-62311400	Flanking Active TSS	Stomach Mucosa	stomach
46	chr11:62310000-62311400	Flanking Active TSS	NH-A	brain
47	chr11:62310000-62312000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
48	chr11:62310000-62312400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr11:62310000-62312400	Flanking Active TSS	HUVEC	blood vessel
50	chr11:62310000-62312600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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