Variant report

Variant	nsv523357
Chromosome Location	chr11:62801148-62838511
allele	n/a
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	ARID3A	chr11:62803177-62803494	HepG2	liver:	n/a	n/a
2	BHLHE40	chr11:62803223-62803396	K562	blood:	n/a	n/a
3	CEBPB	chr11:62803080-62803519	ECC-1	luminal epithelium:	n/a	chr11:62803286-62803297
4	CEBPB	chr11:62803101-62803507	Hela-S3	cervix:	n/a	chr11:62803286-62803297
5	CEBPB	chr11:62803094-62803499	K562	blood:	n/a	chr11:62803286-62803297
6	CEBPB	chr11:62803065-62803500	MCF-7	breast:	n/a	chr11:62803286-62803297
7	CEBPB	chr11:62802990-62803604	A549	lung:	n/a	chr11:62803286-62803297
8	CEBPB	chr11:62803114-62803487	H1-hESC	embryonic stem cell:	n/a	chr11:62803286-62803297
9	CEBPB	chr11:62803113-62803470	HepG2	liver:	n/a	chr11:62803286-62803297
10	CEBPB	chr11:62803178-62803402	K562	blood:	n/a	chr11:62803286-62803297
11	CEBPB	chr11:62838116-62838273	K562	blood:	n/a	chr11:62838171-62838180 chr11:62838169-62838180 chr11:62838169-62838182
12	CEBPB	chr11:62803074-62803527	ECC-1	luminal epithelium:	n/a	chr11:62803286-62803297
13	CEBPB	chr11:62838086-62838286	A549	lung:	n/a	chr11:62838171-62838180 chr11:62838169-62838180 chr11:62838169-62838182
14	CEBPB	chr11:62803097-62803485	IMR90	lung:	n/a	chr11:62803286-62803297
15	CEBPB	chr11:62803139-62803475	HepG2	liver:	n/a	chr11:62803286-62803297
16	CEBPB	chr11:62803114-62803489	A549	lung:	n/a	chr11:62803286-62803297
17	CEBPB	chr11:62803043-62803506	K562	blood:	n/a	chr11:62803286-62803297
18	CEBPB	chr11:62838003-62838326	HepG2	liver:	n/a	chr11:62838171-62838180 chr11:62838169-62838180 chr11:62838169-62838182
19	CEBPB	chr11:62803092-62803562	A549	lung:	n/a	chr11:62803286-62803297
20	CEBPB	chr11:62802958-62803702	HCT-116	colon:	n/a	chr11:62803286-62803297
21	CEBPB	chr11:62803052-62803598	MCF-7	breast:	n/a	chr11:62803286-62803297
22	CEBPB	chr11:62803197-62803417	HepG2	liver:	n/a	chr11:62803286-62803297
23	CTCF	chr11:62803191-62803461	Kidney_OC	kidney:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
24	CTCF	chr11:62803240-62803390	NHDF-neo	bronchial:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
25	CTCF	chr11:62803473-62803661	ProgFib	skin:	n/a	chr11:62803552-62803565 chr11:62803550-62803568
26	CTCF	chr11:62803240-62803390	WI-38	lung:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
27	CTCF	chr11:62803300-62803450	GM12870	blood:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
28	CTCF	chr11:62803260-62803410	GM12865	blood:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
29	CTCF	chr11:62803240-62803390	GM12878	blood:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
30	CTCF	chr11:62803129-62803693	MCF-7	breast:	n/a	chr11:62803552-62803565 chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803550-62803568 chr11:62803321-62803334
31	CTCF	chr11:62803260-62803410	GM12873	blood:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
32	CTCF	chr11:62803518-62803520	Medullo	brain:	n/a	n/a
33	CTCF	chr11:62803220-62803370	NB4	blood:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
34	CTCF	chr11:62803260-62803410	GM12801	blood:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
35	CTCF	chr11:62802962-62803073	GM10266	blood:	n/a	n/a
36	CTCF	chr11:62803555-62803612	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr11:62803216-62803657	NHEK	skin:	n/a	chr11:62803552-62803565 chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803550-62803568 chr11:62803321-62803334
38	CTCF	chr11:62803220-62803370	HL-60	blood:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
39	CTCF	chr11:62803101-62803771	HepG2	liver:	n/a	chr11:62803552-62803565 chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803550-62803568 chr11:62803321-62803334
40	CTCF	chr11:62803134-62803453	ECC-1	luminal epithelium:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
41	CTCF	chr11:62803180-62803330	RPTEC	kidney:	n/a	n/a
42	CTCF	chr11:62803280-62803430	SAEC	small airway:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
43	CTCF	chr11:62803513-62803660	GM19238	blood:	n/a	chr11:62803552-62803565 chr11:62803550-62803568
44	CTCF	chr11:62803260-62803410	HUVEC	blood vessel:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
45	CTCF	chr11:62803228-62803404	SK-N-SH_RA	brain:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
46	CTCF	chr11:62803240-62803390	HRE	kidney:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
47	CTCF	chr11:62803179-62803668	Spleen_OC	spleen:	n/a	chr11:62803552-62803565 chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803550-62803568 chr11:62803321-62803334
48	CTCF	chr11:62803168-62803663	K562	blood:	n/a	chr11:62803552-62803565 chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803550-62803568 chr11:62803321-62803334
49	CTCF	chr11:62803240-62803390	AG04449	skin:	n/a	chr11:62803318-62803336 chr11:62803320-62803341 chr11:62803319-62803335 chr11:62803323-62803331 chr11:62803321-62803334
50	CTCF	chr11:62802900-62803050	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62803292..62803814-chr13:91253834..91254354,2	MCF-7	breast:
2	chr11:62787850..62788739-chr11:62802740..62803305,2	K562	blood:
3	chr11:62802846..62803791-chr11:62980023..62980911,6	MCF-7	breast:
4	chr11:62802803..62803858-chr11:63041979..63043067,8	MCF-7	breast:
5	chr11:62607769..62610618-chr11:62800892..62803706,3	MCF-7	breast:
6	chr11:62802826..62803401-chr11:63245985..63246532,2	MCF-7	breast:
7	chr11:62802829..62803373-chr11:62979825..62980365,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253547	TF binding region
ENSG00000256041	TF binding region
ENSG00000133316	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1108539	chr11:62801148-62801149	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560687272	chr11:62801175-62801176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116697015	chr11:62801190-62801191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185580546	chr11:62801200-62801201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370225124	chr11:62801221-62801222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532741703	chr11:62801222-62801223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552838084	chr11:62801230-62801231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566143782	chr11:62801268-62801269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534778190	chr11:62801273-62801274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568018767	chr11:62801396-62801397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548676006	chr11:62801437-62801438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568320098	chr11:62801496-62801497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11231311	chr11:62801539-62801540	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556032274	chr11:62801671-62801672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113105931	chr11:62801676-62801677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538427007	chr11:62801687-62801688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558305698	chr11:62801763-62801764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373627802	chr11:62801770-62801771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572221357	chr11:62801797-62801798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540731430	chr11:62801799-62801800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371393892	chr11:62801804-62801805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554654642	chr11:62801806-62801807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147095930	chr11:62801810-62801811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543482593	chr11:62801948-62801949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374292069	chr11:62802029-62802030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563953899	chr11:62802061-62802062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532881150	chr11:62802062-62802063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547798300	chr11:62802095-62802096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546538105	chr11:62802111-62802112	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559655951	chr11:62802178-62802179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs3935736	chr11:62802248-62802249	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539935390	chr11:62802251-62802252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548344990	chr11:62802256-62802257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138493151	chr11:62802276-62802277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190064116	chr11:62802286-62802287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550589875	chr11:62802290-62802291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117304327	chr11:62802293-62802294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538511997	chr11:62802347-62802348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556333681	chr11:62802371-62802372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558441048	chr11:62802414-62802415	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565692481	chr11:62802418-62802419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534867566	chr11:62802419-62802420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79195431	chr11:62802473-62802474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142500870	chr11:62802557-62802558	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181605770	chr11:62802583-62802584	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576016238	chr11:62802590-62802591	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556965549	chr11:62802618-62802619	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370776895	chr11:62802647-62802648	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs576952438	chr11:62802653-62802654	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576928908	chr11:62802654-62802655	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62802600-62802800	Enhancers	Liver	Liver
2	chr11:62802600-62803000	Enhancers	Pancreas	Pancrea
3	chr11:62802600-62803200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:62802800-62803000	Enhancers	Brain Angular Gyrus	brain
5	chr11:62802800-62803000	Enhancers	Brain Anterior Caudate	brain
6	chr11:62802800-62803000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:62802800-62803000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr11:62802800-62803000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
9	chr11:62802800-62803000	Enhancers	Stomach Mucosa	stomach
10	chr11:62802800-62803000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr11:62802800-62803000	Bivalent/Poised TSS	Hela-S3	cervix
12	chr11:62802800-62803000	Enhancers	NHEK	skin
13	chr11:62802800-62803200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:62802800-62803200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
15	chr11:62802800-62803400	Flanking Active TSS	Liver	Liver
16	chr11:62803000-62803200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:62803000-62803200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr11:62803000-62803200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:62803000-62803200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:62803000-62803200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr11:62803000-62803200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
22	chr11:62803000-62803200	Flanking Active TSS	Right Atrium	heart
23	chr11:62803000-62803200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:62803000-62803200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:62803000-62803200	Flanking Active TSS	Stomach Mucosa	stomach
26	chr11:62803000-62803200	Enhancers	Dnd41	blood
27	chr11:62803000-62803200	Enhancers	HMEC	breast
28	chr11:62803000-62803200	Enhancers	HSMM	muscle
29	chr11:62803000-62803200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:62803000-62803200	Flanking Active TSS	NHEK	skin
31	chr11:62803000-62803400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:62803000-62803400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:62803000-62803400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:62803000-62803400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:62803000-62803400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:62803000-62803400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:62803000-62803400	Enhancers	Adipose Nuclei	Adipose
38	chr11:62803000-62803400	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr11:62803000-62803400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr11:62803000-62803400	Active TSS	Brain Cingulate Gyrus	brain
41	chr11:62803000-62803400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr11:62803000-62803400	Active TSS	Brain Substantia Nigra	brain
43	chr11:62803000-62803400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:62803000-62803400	Active TSS	Esophagus	oesophagus
45	chr11:62803000-62803400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:62803000-62803400	Active TSS	Pancreas	Pancrea
47	chr11:62803000-62803400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:62803000-62803400	Active TSS	Rectal Smooth Muscle	rectum
49	chr11:62803000-62803400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr11:62803000-62803400	Active TSS	Hela-S3	cervix

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