Variant report

Variant	esv3479397
Chromosome Location	chr11:68066920-68069567
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68023085..68029563-chr11:68062886..68068108,10	K562	blood:
2	chr11:68036666..68040778-chr11:68062855..68066920,5	MCF-7	breast:
3	chr11:68067502..68069417-chr11:68075870..68077687,2	K562	blood:
4	chr11:67980948..67983434-chr11:68069387..68072192,2	MCF-7	breast:
5	chr11:68037273..68040691-chr11:68063074..68067877,6	K562	blood:
6	chr11:68057111..68058880-chr11:68065372..68067139,2	K562	blood:
7	chr11:68039293..68041067-chr11:68068741..68070951,2	MCF-7	breast:
8	chr11:68031189..68035426-chr11:68065134..68068742,5	K562	blood:
9	chr11:67980118..67984820-chr11:68063296..68068146,8	MCF-7	breast:
10	chr11:68035470..68040704-chr11:68063460..68067753,9	MCF-7	breast:
11	chr11:68068966..68071609-chr11:68079466..68081897,3	MCF-7	breast:
12	chr11:68069444..68070995-chr11:68080459..68082466,2	K562	blood:
13	chr11:68020408..68022224-chr11:68066797..68069324,2	MCF-7	breast:
14	chr11:68069495..68072257-chr11:68078996..68081959,2	K562	blood:
15	chr11:68037273..68041335-chr11:68062983..68069935,8	K562	blood:
16	chr11:68023658..68026567-chr11:68063671..68067892,6	K562	blood:
17	chr11:68065319..68067003-chr11:68078730..68080797,2	K562	blood:
18	chr11:68065503..68069323-chr11:68077534..68081604,5	K562	blood:
19	chr11:68038543..68040712-chr11:68069462..68071970,2	K562	blood:
20	chr11:68065500..68067859-chr11:68082102..68086074,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171067	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000162337	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57356563	chr11:68066934-68066935	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10896315	chr11:68066946-68066947	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs10896316	chr11:68066947-68066948	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs550150379	chr11:68066948-68066949	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs567177	chr11:68066972-68066973	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369223122	chr11:68066973-68066974	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs528364612	chr11:68066975-68066976	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs540082773	chr11:68066976-68066977	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs564688815	chr11:68067018-68067019	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs35401890	chr11:68067039-68067040	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs376417086	chr11:68067053-68067054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs76852370	chr11:68067055-68067056	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs532475986	chr11:68067061-68067062	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs77488753	chr11:68067071-68067072	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs34440601	chr11:68067090-68067091	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs550624202	chr11:68067092-68067093	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs370801788	chr11:68067098-68067099	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs373856740	chr11:68067192-68067193	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs368480051	chr11:68067209-68067210	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs562822523	chr11:68067237-68067238	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs193290017	chr11:68067252-68067253	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs375621776	chr11:68067294-68067295	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs548283098	chr11:68067341-68067342	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs116931691	chr11:68067342-68067343	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs547941521	chr11:68067353-68067354	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534181405	chr11:68067378-68067379	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs111306691	chr11:68067389-68067390	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs578163198	chr11:68067402-68067403	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs566150753	chr11:68067414-68067415	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557120356	chr11:68067441-68067442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs183346644	chr11:68067452-68067453	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs536283816	chr11:68067456-68067457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12577309	chr11:68067484-68067485	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs202114503	chr11:68067530-68067531	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs573093624	chr11:68067545-68067546	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs113959023	chr11:68067595-68067596	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs312020	chr11:68067640-68067641	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs576598405	chr11:68067649-68067650	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs543989331	chr11:68067651-68067652	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs563041888	chr11:68067724-68067725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530135827	chr11:68067764-68067765	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs548567879	chr11:68067790-68067791	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112712464	chr11:68067840-68067841	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs528007722	chr11:68067866-68067867	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs552876698	chr11:68067898-68067899	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs570370381	chr11:68067910-68067911	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs571138102	chr11:68067925-68067926	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs538475249	chr11:68067962-68067963	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs140091046	chr11:68067978-68067979	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs568980358	chr11:68067989-68067990	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68061800-68070000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:68064200-68067000	Enhancers	Gastric	stomach
3	chr11:68065000-68068000	Enhancers	Right Ventricle	heart
4	chr11:68065000-68071600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:68065400-68067000	Flanking Active TSS	Liver	Liver
6	chr11:68065600-68067000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr11:68065600-68069800	Weak transcription	HSMM	muscle
8	chr11:68065600-68070000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:68065600-68070000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:68065600-68070000	Weak transcription	Thymus	Thymus
11	chr11:68065600-68070200	Weak transcription	GM12878-XiMat	blood
12	chr11:68065600-68079200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:68065800-68069800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:68065800-68070200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:68065800-68070200	Weak transcription	K562	blood
16	chr11:68065800-68078400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:68066000-68067000	Enhancers	Hela-S3	cervix
18	chr11:68066200-68067000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:68066200-68067000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:68066200-68067000	Enhancers	Stomach Mucosa	stomach
21	chr11:68066200-68068200	Enhancers	Fetal Intestine Small	intestine
22	chr11:68066200-68070200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:68066400-68068200	Enhancers	Fetal Intestine Large	intestine
24	chr11:68066600-68067000	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:68066600-68067000	Enhancers	Lung	lung
26	chr11:68066600-68067000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:68066600-68067000	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr11:68066600-68068200	Enhancers	Colonic Mucosa	Colon
29	chr11:68066600-68069600	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:68066600-68070200	Weak transcription	Placenta	Placenta
31	chr11:68066600-68078800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:68066800-68067000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:68066800-68067000	Weak transcription	Left Ventricle	heart
34	chr11:68066800-68067200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:68066800-68067800	Enhancers	A549	lung
36	chr11:68066800-68068000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:68066800-68069800	Weak transcription	Adipose Nuclei	Adipose
38	chr11:68066800-68069800	Weak transcription	Small Intestine	intestine
39	chr11:68066800-68070000	Weak transcription	Spleen	Spleen
40	chr11:68066800-68071000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:68066800-68079600	Weak transcription	Right Atrium	heart
42	chr11:68067000-68067200	Flanking Active TSS	HepG2	liver
43	chr11:68067000-68068200	Enhancers	Liver	Liver
44	chr11:68067000-68069800	Weak transcription	Stomach Mucosa	stomach
45	chr11:68067000-68069800	Weak transcription	Hela-S3	cervix
46	chr11:68067000-68070000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:68067000-68070000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:68067000-68070000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:68067000-68070000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:68067000-68070200	Weak transcription	Gastric	stomach

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