Variant report

Variant	esv2343268
Chromosome Location	chr11:73072966-73072970
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	BACH1	chr11:73072923-73073322	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr11:73072931-73073634	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:73072960-73073110	HepG2	liver:	n/a	n/a
4	CTCF	chr11:73072950-73073204	K562	blood:	n/a	n/a
5	CTCF	chr11:73072952-73073131	HepG2	liver:	n/a	n/a
6	CTCF	chr11:73072940-73073090	HEK293	kidney:	n/a	n/a
7	CTCF	chr11:73072856-73073264	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:73072918-73073222	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:73072960-73073110	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr11:73072960-73073110	HRE	kidney:	n/a	n/a
11	MAX	chr11:73072874-73073499	H1-hESC	embryonic stem cell:	n/a	chr11:73073375-73073385
12	MYC	chr11:73072938-73073022	MCF-7	breast:	n/a	n/a
13	RAD21	chr11:73072903-73073255	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr11:73072867-73073279	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr11:73072862-73073336	H1-hESC	embryonic stem cell:	n/a	chr11:73073312-73073325
16	SIN3A	chr11:73072923-73073799	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP4	chr11:73072885-73073553	H1-hESC	embryonic stem cell:	n/a	chr11:73073405-73073421 chr11:73073374-73073385 chr11:73073403-73073419 chr11:73073392-73073408 chr11:73073372-73073388 chr11:73073394-73073405
18	SP4	chr11:73072927-73073575	H1-hESC	embryonic stem cell:	n/a	chr11:73073405-73073421 chr11:73073374-73073385 chr11:73073403-73073419 chr11:73073392-73073408 chr11:73073372-73073388 chr11:73073394-73073405
19	TAF1	chr11:73072920-73073651	H1-hESC	embryonic stem cell:	n/a	n/a
20	TBP	chr11:73072962-73073621	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr11:73072912-73073354	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr11:73072939-73073285	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73072848..73076565-chr11:73085578..73089791,6	MCF-7	breast:
2	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
3	chr11:73064557..73071332-chr11:73071606..73076683,10	K562	blood:
4	chr11:73065144..73069347-chr11:73069926..73075014,6	MCF-7	breast:
5	chr11:73067211..73073171-chr11:73086403..73091347,7	K562	blood:
6	chr11:73002085..73004189-chr11:73070534..73073198,2	MCF-7	breast:
7	chr11:73071635..73074523-chr11:73081652..73084521,2	MCF-7	breast:
8	chr11:73018905..73020845-chr11:73070622..73074766,3	MCF-7	breast:
9	chr11:73072856..73074800-chr11:73103670..73106366,2	K562	blood:
10	chr11:73071618..73073385-chr11:73077416..73079992,2	K562	blood:

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000171631	chromatin interactions
ENSG00000257038	chromatin interactions
ENSG00000054967	chromatin interactions
ENSG00000266866	chromatin interactions
ENSG00000110237	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 104 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10553377	chr11:73072966-73072967	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73075400	Weak transcription	A549	lung
2	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
3	chr11:73056000-73077200	Weak transcription	Right Atrium	heart
4	chr11:73059000-73074000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
7	chr11:73060200-73077000	Weak transcription	GM12878-XiMat	blood
8	chr11:73062200-73075000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:73062200-73077600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:73062600-73073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:73062600-73077000	Weak transcription	Fetal Brain Male	brain
12	chr11:73062600-73078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
14	chr11:73062600-73087400	Weak transcription	Liver	Liver
15	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
17	chr11:73063600-73077200	Strong transcription	Ovary	ovary
18	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:73063800-73079000	Strong transcription	Fetal Lung	lung
21	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:73064000-73076800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:73064200-73077000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:73064600-73073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:73065800-73077600	Strong transcription	Rectal Smooth Muscle	rectum
28	chr11:73066400-73073600	Genic enhancers	Placenta	Placenta
29	chr11:73066400-73077200	Strong transcription	Right Ventricle	heart
30	chr11:73066400-73077600	Strong transcription	Gastric	stomach
31	chr11:73066400-73079800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:73066600-73073400	Strong transcription	Pancreas	Pancrea
33	chr11:73066600-73078000	Strong transcription	Lung	lung
34	chr11:73066600-73081400	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr11:73066800-73077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:73066800-73079200	Strong transcription	Colon Smooth Muscle	Colon
37	chr11:73067200-73073800	Weak transcription	Colonic Mucosa	Colon
38	chr11:73067600-73077400	Weak transcription	Thymus	Thymus
39	chr11:73068000-73073600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:73068600-73078200	Weak transcription	Small Intestine	intestine
41	chr11:73068800-73081000	Strong transcription	Fetal Brain Female	brain
42	chr11:73069800-73076600	Strong transcription	Spleen	Spleen
43	chr11:73069800-73081000	Strong transcription	Brain Germinal Matrix	brain
44	chr11:73070400-73075200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:73070400-73079400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:73070600-73077600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr11:73070600-73079400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:73070800-73077000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:73070800-73077600	Strong transcription	NH-A	brain
50	chr11:73070800-73080400	Strong transcription	Aorta	Aorta

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