Variant report

Variant	esv3469408
Chromosome Location	chr11:47525993-47528119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:47526671-47526771	K562	blood:	n/a	n/a
2	POLR2A	chr11:47526238-47526372	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:47525981-47526052	MCF-7	breast:	n/a	n/a
4	USF2	chr11:47526655-47526662	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47527749..47529924-chr11:47868139..47869931,2	K562	blood:
2	chr11:47495876..47498563-chr11:47527719..47529777,2	K562	blood:
3	chr11:47517168..47520094-chr11:47522959..47526818,3	K562	blood:
4	chr11:47520398..47522302-chr11:47526917..47528818,2	K562	blood:
5	chr11:47524421..47526189-chr11:47528668..47531487,2	K562	blood:
6	chr11:47495876..47498563-chr11:47527719..47530859,3	K562	blood:
7	chr11:47521843..47524187-chr11:47526565..47529247,2	MCF-7	breast:

No data

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000030066	chromatin interactions
ENSG00000149187	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549106718	chr11:47526004-47526005	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557446167	chr11:47526032-47526033	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565599343	chr11:47526052-47526053	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376411121	chr11:47526061-47526062	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535249546	chr11:47526073-47526074	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558357836	chr11:47526086-47526087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571851172	chr11:47526109-47526110	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537775076	chr11:47526110-47526111	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557362349	chr11:47526117-47526118	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11388676	chr11:47526153-47526154	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565909740	chr11:47526163-47526164	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61895102	chr11:47526178-47526179	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542610032	chr11:47526241-47526242	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs140510617	chr11:47526280-47526281	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs541630063	chr11:47526311-47526312	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs573221349	chr11:47526313-47526314	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs540848484	chr11:47526370-47526371	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563967654	chr11:47526435-47526436	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374401044	chr11:47526454-47526455	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397849335	chr11:47526473-47526474	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61895103	chr11:47526476-47526477	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371849465	chr11:47526495-47526496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532943206	chr11:47526584-47526585	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543350387	chr11:47526585-47526586	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550346278	chr11:47526594-47526595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568571344	chr11:47526597-47526598	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143726419	chr11:47526666-47526667	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528884190	chr11:47526682-47526683	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548670157	chr11:47526696-47526697	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565792361	chr11:47526700-47526701	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528224125	chr11:47526741-47526742	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551485613	chr11:47526784-47526785	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77886697	chr11:47526856-47526857	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537641435	chr11:47526860-47526861	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557639805	chr11:47526913-47526914	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190553008	chr11:47526914-47526915	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541304210	chr11:47526943-47526944	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563956198	chr11:47526952-47526953	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532957520	chr11:47526956-47526957	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553062300	chr11:47526977-47526978	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182218724	chr11:47526992-47526993	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538779007	chr11:47526998-47526999	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10838724	chr11:47527052-47527053	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs148109510	chr11:47527121-47527122	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543164536	chr11:47527163-47527164	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs77110567	chr11:47527193-47527194	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200841719	chr11:47527195-47527196	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112777088	chr11:47527196-47527197	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77742148	chr11:47527198-47527199	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563616662	chr11:47527213-47527214	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
2	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
6	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:47511200-47528600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:47513400-47528400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:47515600-47528200	Weak transcription	NH-A	brain
10	chr11:47516800-47530200	Weak transcription	Colonic Mucosa	Colon
11	chr11:47518600-47526200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:47519000-47529200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:47519200-47526600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:47519200-47527000	Strong transcription	Hela-S3	cervix
15	chr11:47520000-47528200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:47520400-47526000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:47520400-47528800	Weak transcription	Thymus	Thymus
18	chr11:47520400-47529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:47521200-47527000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:47521600-47526000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:47521600-47528600	Weak transcription	A549	lung
22	chr11:47521600-47529800	Weak transcription	Gastric	stomach
23	chr11:47521600-47530200	Weak transcription	Right Ventricle	heart
24	chr11:47521600-47531000	Weak transcription	Lung	lung
25	chr11:47521600-47534000	Weak transcription	Aorta	Aorta
26	chr11:47521600-47534400	Weak transcription	HUVEC	blood vessel
27	chr11:47521800-47527800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:47521800-47528000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:47521800-47528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:47521800-47528000	Weak transcription	Ovary	ovary
31	chr11:47521800-47528000	Weak transcription	Stomach Mucosa	stomach
32	chr11:47521800-47529000	Weak transcription	Brain Germinal Matrix	brain
33	chr11:47521800-47529200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:47521800-47531000	Weak transcription	Spleen	Spleen
35	chr11:47522000-47528000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:47522000-47528200	Weak transcription	NHDF-Ad	bronchial
37	chr11:47522200-47528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:47522200-47528400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:47522200-47528400	Weak transcription	HMEC	breast
40	chr11:47522400-47528000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:47522400-47528000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:47522400-47528800	Weak transcription	Fetal Intestine Large	intestine
43	chr11:47522600-47528000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:47522600-47528800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:47522800-47528000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:47522800-47528000	Weak transcription	Osteobl	bone
47	chr11:47522800-47530400	Weak transcription	HepG2	liver
48	chr11:47522800-47536200	Weak transcription	Fetal Brain Female	brain
49	chr11:47523000-47526400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:47523000-47528000	Weak transcription	Primary B cells from peripheral blood	blood

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