Variant report

Variant	esv275183
Chromosome Location	chr11:34877761-34881376
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:34870702..34872577-chr11:34878120..34880872,2	K562	blood:
2	chr11:34875503..34877981-chr11:34878649..34881731,3	K562	blood:
3	chr11:34870702..34874791-chr11:34878120..34882301,4	K562	blood:
4	chr11:34880661..34882510-chr11:34884203..34886582,2	MCF-7	breast:
5	chr11:34875503..34877981-chr11:34878649..34881731,3	K562	blood:
6	chr11:34878119..34880348-chr11:34884856..34886591,2	K562	blood:
7	chr11:34868671..34870522-chr11:34876282..34878999,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELF5-3	chr11:34876859-34878189	XLOC_009414
2	lnc-ELF5-3	chr11:34880399-34880602	XLOC_009414
3	lnc-ELF5-3	chr11:34877836-34878189	NONHSAT018762

No data

Extended variants
information (count: 118 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2941061	chr11:34877761-34877762	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs55950082	chr11:34877764-34877765	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187893589	chr11:34877792-34877793	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs191927267	chr11:34877870-34877871	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs546338392	chr11:34877888-34877889	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs566565966	chr11:34877935-34877936	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs112120172	chr11:34877957-34877958	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs150429482	chr11:34878000-34878001	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs2915178	chr11:34878051-34878052	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs538510968	chr11:34878122-34878123	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs114365477	chr11:34878128-34878129	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs80354735	chr11:34878291-34878292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540821036	chr11:34878310-34878311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183737066	chr11:34878345-34878346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574072627	chr11:34878360-34878361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542749954	chr11:34878366-34878367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562523837	chr11:34878389-34878390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531619454	chr11:34878415-34878416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570845039	chr11:34878490-34878491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544067866	chr11:34878500-34878501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188117258	chr11:34878564-34878565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372115259	chr11:34878577-34878578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7109485	chr11:34878581-34878582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546771140	chr11:34878641-34878642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537543498	chr11:34878646-34878647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566583824	chr11:34878662-34878663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559363410	chr11:34878773-34878774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549121468	chr11:34878792-34878793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1160337	chr11:34878793-34878794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149618404	chr11:34878799-34878800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11607986	chr11:34878809-34878810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs529202368	chr11:34878841-34878842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147318131	chr11:34878876-34878877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7106038	chr11:34878900-34878901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554329754	chr11:34878983-34878984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574181638	chr11:34878987-34878988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536054537	chr11:34878991-34878992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7120509	chr11:34879009-34879010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556256765	chr11:34879052-34879053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55953030	chr11:34879073-34879074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575988499	chr11:34879121-34879122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2941060	chr11:34879154-34879155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs550949554	chr11:34879270-34879271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569769584	chr11:34879276-34879277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180885161	chr11:34879286-34879287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368536491	chr11:34879309-34879310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141049721	chr11:34879396-34879397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560265306	chr11:34879404-34879405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185427659	chr11:34879512-34879513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549058229	chr11:34879537-34879538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34859000-34909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34872200-34886600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:34875400-34877800	Enhancers	Stomach Mucosa	stomach
4	chr11:34876200-34878200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:34876200-34878200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:34876400-34878800	Weak transcription	Small Intestine	intestine
7	chr11:34876600-34896000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:34876800-34880400	Weak transcription	Esophagus	oesophagus
9	chr11:34877000-34878000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr11:34877000-34880800	Weak transcription	HepG2	liver
11	chr11:34877200-34877800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr11:34877400-34878000	Weak transcription	Psoas Muscle	Psoas
13	chr11:34877400-34881000	Weak transcription	Left Ventricle	heart
14	chr11:34877400-34886400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:34877600-34880000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:34877600-34881600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:34877600-34906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:34877800-34878200	Enhancers	Fetal Muscle Leg	muscle
19	chr11:34877800-34878200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:34877800-34878800	Weak transcription	Stomach Mucosa	stomach
21	chr11:34878000-34878200	Enhancers	Psoas Muscle	Psoas
22	chr11:34878000-34880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:34878200-34881000	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:34878200-34881600	Weak transcription	Psoas Muscle	Psoas
25	chr11:34878200-34891400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:34878800-34879400	Enhancers	Stomach Mucosa	stomach
27	chr11:34879400-34881000	Weak transcription	Stomach Mucosa	stomach
28	chr11:34880000-34880200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:34880200-34880600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:34880200-34898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:34880400-34882200	Enhancers	Liver	Liver
32	chr11:34880400-34882400	Enhancers	Esophagus	oesophagus
33	chr11:34880600-34882000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:34880600-34884200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:34880800-34881200	Enhancers	Right Atrium	heart
36	chr11:34880800-34881400	Enhancers	Colon Smooth Muscle	Colon
37	chr11:34880800-34881800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:34880800-34882200	Enhancers	Stomach Smooth Muscle	stomach
39	chr11:34880800-34882200	Enhancers	HepG2	liver
40	chr11:34880800-34882400	Enhancers	Fetal Heart	heart
41	chr11:34880800-34882600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:34881000-34881200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:34881000-34881400	Enhancers	Stomach Mucosa	stomach
44	chr11:34881000-34882000	Enhancers	Gastric	stomach
45	chr11:34881000-34882000	Enhancers	Left Ventricle	heart
46	chr11:34881000-34882200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:34881000-34882400	Enhancers	Adipose Nuclei	Adipose
48	chr11:34881000-34882600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:34881000-34882600	Enhancers	Fetal Lung	lung
50	chr11:34881000-34882600	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links