Variant report

Variant	nsv553593
Chromosome Location	chr11:18095815-18100022
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18095890..18098789-chr11:18109246..18111081,2	K562	blood:
2	chr11:18097702..18099433-chr11:18102969..18105634,2	K562	blood:
3	chr11:18096008..18098167-chr11:18099695..18101837,4	K562	blood:
4	chr11:18093261..18096256-chr11:18101995..18104742,3	K562	blood:
5	chr11:18037112..18038638-chr11:18097036..18099168,2	K562	blood:
6	chr11:18094663..18097873-chr11:18099803..18103495,3	K562	blood:
7	chr11:18096008..18098167-chr11:18099695..18101837,4	K562	blood:
8	chr11:18097348..18100166-chr11:18112534..18115316,2	MCF-7	breast:
9	chr11:18029098..18031772-chr11:18092202..18096288,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166788	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs7939791	chr11:18095815-18095816	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11024464	chr11:18095825-18095826	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74983716	chr11:18095857-18095858	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150437402	chr11:18095866-18095867	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112985310	chr11:18095898-18095899	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530127113	chr11:18095952-18095953	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11408456	chr11:18095971-18095972	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386751130	chr11:18095972-18095973	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199776872	chr11:18095973-18095974	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566286624	chr11:18095993-18095994	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs118112471	chr11:18096038-18096039	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117014374	chr11:18096039-18096040	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571631031	chr11:18096063-18096064	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7943725	chr11:18096091-18096092	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs369485590	chr11:18096120-18096121	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555875844	chr11:18096130-18096131	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146545945	chr11:18096143-18096144	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535495347	chr11:18096208-18096209	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141259864	chr11:18096209-18096210	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559874413	chr11:18096212-18096213	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573437980	chr11:18096233-18096234	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540490141	chr11:18096241-18096242	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190201705	chr11:18096255-18096256	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7933259	chr11:18096260-18096261	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs544932337	chr11:18096274-18096275	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144998006	chr11:18096302-18096303	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138991355	chr11:18096310-18096311	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73430022	chr11:18096316-18096317	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs71484794	chr11:18096326-18096327	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560229221	chr11:18096351-18096352	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575676503	chr11:18096353-18096354	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527454249	chr11:18096379-18096380	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552066822	chr11:18096463-18096464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570665302	chr11:18096516-18096517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7944348	chr11:18096574-18096575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs555140222	chr11:18096584-18096585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182070457	chr11:18096588-18096589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535456211	chr11:18096641-18096642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553872657	chr11:18096647-18096648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186604741	chr11:18096668-18096669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573459598	chr11:18096718-18096719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539552236	chr11:18096747-18096748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559152396	chr11:18096749-18096750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149434743	chr11:18096756-18096757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143754757	chr11:18096780-18096781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191554670	chr11:18096795-18096796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374589267	chr11:18096801-18096802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574458023	chr11:18096822-18096823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541844729	chr11:18096828-18096829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540485019	chr11:18096837-18096838	Weak transcription 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
T-cell prolymphocytic leukemia	19278963	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	chr11:18070800-18102600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:18081400-18100400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:18083200-18109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:18083400-18102400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:18084800-18108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:18085200-18097000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:18085200-18104200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:18085200-18113000	Weak transcription	Fetal Brain Male	brain
9	chr11:18085600-18101000	Weak transcription	Thymus	Thymus
10	chr11:18085600-18102000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:18085800-18100600	Weak transcription	Fetal Kidney	kidney
12	chr11:18085800-18109600	Weak transcription	Spleen	Spleen
13	chr11:18086000-18100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:18086000-18101000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:18086000-18105600	Weak transcription	Right Ventricle	heart
16	chr11:18086200-18100600	Weak transcription	Brain Anterior Caudate	brain
17	chr11:18086400-18107600	Weak transcription	Lung	lung
18	chr11:18086600-18100600	Weak transcription	Liver	Liver
19	chr11:18087400-18099800	Weak transcription	Dnd41	blood
20	chr11:18087400-18100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:18087400-18109800	Weak transcription	Gastric	stomach
22	chr11:18087400-18115800	Weak transcription	Pancreas	Pancrea
23	chr11:18087600-18099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:18087600-18100400	Weak transcription	HMEC	breast
25	chr11:18087600-18102400	Weak transcription	Brain Germinal Matrix	brain
26	chr11:18087600-18105200	Weak transcription	NHEK	skin
27	chr11:18087800-18100400	Weak transcription	Fetal Brain Female	brain
28	chr11:18087800-18100800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:18088200-18100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:18088600-18100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:18088800-18101200	Weak transcription	Ovary	ovary
32	chr11:18089200-18099800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:18089200-18102400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:18089600-18100800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:18089600-18101000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:18089600-18102600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:18089800-18099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:18089800-18100400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:18090000-18100600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:18090200-18107600	Weak transcription	Aorta	Aorta
41	chr11:18090400-18100600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:18090600-18100800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:18090800-18100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:18090800-18101600	Weak transcription	GM12878-XiMat	blood
45	chr11:18091000-18100600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:18091400-18100600	Weak transcription	Primary T cells from cord blood	blood
47	chr11:18091600-18101000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:18091600-18101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:18092200-18107200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:18092600-18102000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links