Variant report

Variant	esv3441775
Chromosome Location	chr11:72333404-72337902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72329305..72334052-chr11:72334284..72337478,5	K562	blood:
2	chr11:72325202..72330805-chr11:72334238..72338443,6	K562	blood:
3	chr11:72324405..72326702-chr11:72335643..72338443,2	K562	blood:
4	chr11:72336037..72338838-chr11:72339942..72342746,4	K562	blood:
5	chr11:72321761..72324145-chr11:72337508..72339149,2	K562	blood:
6	chr11:72313089..72314978-chr11:72334364..72335937,2	K562	blood:
7	chr11:72332869..72335160-chr11:72338112..72340780,2	K562	blood:
8	chr11:72311450..72313060-chr11:72334269..72335781,2	K562	blood:
9	chr11:72335997..72337699-chr11:72363120..72365299,2	K562	blood:
10	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:
11	chr11:72333492..72335782-chr11:72342126..72344876,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251919	chromatin interactions
ENSG00000272036	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555585390	chr11:72333414-72333415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12276767	chr11:72333437-72333438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372211948	chr11:72333539-72333540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571702269	chr11:72333553-72333554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545345492	chr11:72333587-72333588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564117693	chr11:72333618-72333619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56844809	chr11:72333669-72333670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374555051	chr11:72333685-72333686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576866746	chr11:72333715-72333716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544910118	chr11:72333728-72333729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190256352	chr11:72333758-72333759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530358255	chr11:72333759-72333760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548699555	chr11:72333802-72333803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566925754	chr11:72333805-72333806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527798935	chr11:72333815-72333816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552256904	chr11:72333841-72333842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115408912	chr11:72333842-72333843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566685900	chr11:72333854-72333855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556453750	chr11:72333855-72333856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375621371	chr11:72333882-72333883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74774830	chr11:72333910-72333911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11235551	chr11:72333946-72333947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553552265	chr11:72333997-72333998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553048780	chr11:72334084-72334085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557786956	chr11:72334100-72334101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571766191	chr11:72334133-72334134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112224759	chr11:72334170-72334171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557439825	chr11:72334179-72334180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576023174	chr11:72334219-72334220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115834459	chr11:72334249-72334250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117679424	chr11:72334278-72334279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534058375	chr11:72334280-72334281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377238390	chr11:72334320-72334321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs74652743	chr11:72334386-72334387	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560684712	chr11:72334393-72334394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs527761663	chr11:72334430-72334431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs71477735	chr11:72334431-72334432	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370453295	chr11:72334435-72334436	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs374425419	chr11:72334489-72334490	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs556191245	chr11:72334509-72334510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs78919309	chr11:72334528-72334529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549803060	chr11:72334535-72334536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563881759	chr11:72334536-72334537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371860045	chr11:72334553-72334554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531030652	chr11:72334554-72334555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143898019	chr11:72334585-72334586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs151310478	chr11:72334589-72334590	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs562342082	chr11:72334593-72334594	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188758697	chr11:72334621-72334622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547155012	chr11:72334663-72334664	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Lung cancer	18438408	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
Hodgkin''s lymphoma	17606441	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
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
Chronic lymphocytic leukemia	22228453	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72327600-72335600	Weak transcription	Esophagus	oesophagus
2	chr11:72329200-72335400	Weak transcription	Fetal Brain Female	brain
3	chr11:72329200-72335600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:72329400-72334200	Weak transcription	Right Atrium	heart
5	chr11:72329400-72335800	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:72329600-72335400	Weak transcription	Brain Anterior Caudate	brain
7	chr11:72329600-72335400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:72329600-72336000	Weak transcription	Brain Germinal Matrix	brain
9	chr11:72330000-72334800	Weak transcription	Left Ventricle	heart
10	chr11:72330600-72335600	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:72330600-72335600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:72330600-72335800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:72330600-72336200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:72330800-72334800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:72331200-72335200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:72331200-72335400	Weak transcription	Brain Angular Gyrus	brain
17	chr11:72331200-72335600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:72331200-72335600	Weak transcription	Right Ventricle	heart
19	chr11:72331400-72333600	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:72331400-72335800	Weak transcription	Fetal Brain Male	brain
21	chr11:72331400-72341200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:72331600-72335400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:72331600-72335600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:72331600-72336800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:72332200-72336000	Weak transcription	Fetal Stomach	stomach
26	chr11:72332200-72336200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:72332400-72335400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:72332600-72335400	Weak transcription	Gastric	stomach
29	chr11:72332600-72335600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:72332800-72335400	Weak transcription	Adipose Nuclei	Adipose
31	chr11:72332800-72335400	Weak transcription	Spleen	Spleen
32	chr11:72332800-72335600	Weak transcription	Pancreas	Pancrea
33	chr11:72333400-72333800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:72333600-72335800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:72333800-72334200	Weak transcription	Lung	lung
36	chr11:72334200-72341600	Enhancers	Right Atrium	heart
37	chr11:72334400-72338800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:72334600-72334800	Weak transcription	Lung	lung
39	chr11:72334800-72335000	Enhancers	Stomach Smooth Muscle	stomach
40	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
41	chr11:72335000-72335400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:72335200-72335400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:72335400-72335600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:72335400-72335600	Enhancers	Adipose Nuclei	Adipose
45	chr11:72335400-72335600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:72335400-72335600	Bivalent Enhancer	K562	blood
47	chr11:72335400-72335800	Enhancers	Fetal Kidney	kidney
48	chr11:72335400-72336000	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr11:72335400-72336000	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr11:72335400-72336000	Enhancers	Spleen	Spleen

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