Variant report

Variant	nsv975324
Chromosome Location	chr11:18563800-18581423
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18561266..18564377-chr11:18671969..18674395,3	MCF-7	breast:
2	chr11:18551902..18554921-chr11:18560952..18564096,3	K562	blood:
3	chr11:18547169..18548792-chr11:18563686..18565394,2	MCF-7	breast:
4	chr11:18580055..18582658-chr11:18588074..18589953,2	K562	blood:
5	chr11:18413250..18416096-chr11:18564110..18565719,2	K562	blood:
6	chr11:18572038..18574109-chr11:18607520..18610133,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LDHAL6A-2	chr11:18581110-18581318	ucscGeneNc_uc001mox_2

No data

Variant related genes	Relation type
ENSG00000134333	chromatin interactions
ENSG00000074319	chromatin interactions

Extended variants
information (count: 614 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556684739	chr11:18563837-18563838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575053072	chr11:18563888-18563889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554881312	chr11:18563896-18563897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11822477	chr11:18563905-18563906	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572461794	chr11:18563993-18563994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7105889	chr11:18564061-18564062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs189384088	chr11:18564110-18564111	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576217452	chr11:18564150-18564151	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12577416	chr11:18564180-18564181	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561876859	chr11:18564192-18564193	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373613945	chr11:18564295-18564296	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529163850	chr11:18564315-18564316	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191305865	chr11:18564400-18564401	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12795875	chr11:18564436-18564437	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs367745338	chr11:18564437-18564438	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs56991491	chr11:18564453-18564454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374275157	chr11:18564454-18564455	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12795883	chr11:18564455-18564456	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558973017	chr11:18564479-18564480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12278992	chr11:18564484-18564485	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35315027	chr11:18564510-18564511	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs577839360	chr11:18564528-18564529	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183499076	chr11:18564545-18564546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372531621	chr11:18564565-18564566	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12794725	chr11:18564586-18564587	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148291367	chr11:18564659-18564660	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs141581824	chr11:18564673-18564674	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544805451	chr11:18564707-18564708	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs12223260	chr11:18564729-18564730	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs568628152	chr11:18564792-18564793	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536193339	chr11:18564806-18564807	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189403109	chr11:18564835-18564836	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12224694	chr11:18564837-18564838	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs150892494	chr11:18564844-18564845	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549209698	chr11:18564852-18564853	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs72876768	chr11:18564927-18564928	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376498432	chr11:18564976-18564977	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576480265	chr11:18564979-18564980	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs543860810	chr11:18564985-18564986	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138478613	chr11:18564996-18564997	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113313073	chr11:18565082-18565083	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142999288	chr11:18565195-18565196	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146118615	chr11:18565215-18565216	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs528419938	chr11:18565237-18565238	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371255428	chr11:18565254-18565255	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181805650	chr11:18565261-18565262	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs73422537	chr11:18565274-18565275	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs369317415	chr11:18565291-18565292	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs75921343	chr11:18565361-18565362	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs57093253	chr11:18565454-18565455	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18549000-18576400	Weak transcription	Gastric	stomach
2	chr11:18549000-18577000	Weak transcription	Spleen	Spleen
3	chr11:18549200-18568200	Weak transcription	Lung	lung
4	chr11:18549200-18577000	Weak transcription	Esophagus	oesophagus
5	chr11:18549200-18583400	Weak transcription	Small Intestine	intestine
6	chr11:18549200-18591400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:18549400-18576000	Weak transcription	Ovary	ovary
8	chr11:18549400-18576400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:18549400-18577000	Weak transcription	Colonic Mucosa	Colon
10	chr11:18549400-18579200	Weak transcription	Pancreas	Pancrea
11	chr11:18549400-18583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:18549400-18594400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:18549600-18565000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:18549600-18565400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:18549600-18565800	Weak transcription	Brain Germinal Matrix	brain
16	chr11:18549600-18567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:18549600-18568000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:18549600-18568400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:18549600-18575000	Weak transcription	Fetal Brain Female	brain
20	chr11:18549600-18575200	Weak transcription	Fetal Kidney	kidney
21	chr11:18549600-18576400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:18549600-18576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:18549600-18576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:18549600-18577200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:18549600-18577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:18549600-18608600	Weak transcription	Fetal Heart	heart
27	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
29	chr11:18549800-18564800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:18549800-18565000	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:18549800-18565400	Weak transcription	Fetal Lung	lung
32	chr11:18549800-18565600	Weak transcription	HMEC	breast
33	chr11:18549800-18565800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:18549800-18565800	Weak transcription	Fetal Thymus	thymus
35	chr11:18549800-18565800	Weak transcription	Right Ventricle	heart
36	chr11:18549800-18567000	Weak transcription	HUVEC	blood vessel
37	chr11:18549800-18567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:18549800-18567800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:18549800-18568000	Weak transcription	Thymus	Thymus
40	chr11:18549800-18575000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:18549800-18576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:18549800-18576400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:18549800-18577000	Weak transcription	Primary T cells from cord blood	blood
44	chr11:18549800-18582400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:18549800-18588200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:18549800-18592000	Weak transcription	NHLF	lung
47	chr11:18549800-18594400	Weak transcription	K562	blood
48	chr11:18549800-18600600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:18550400-18575200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:18550600-18591400	Weak transcription	Dnd41	blood

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