Variant report

Variant	nsv983149
Chromosome Location	chr11:17003386-17011615
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:
2	chr11:16996304..16999163-chr11:17008949..17011648,2	MCF-7	breast:
3	chr11:16978066..16978747-chr11:17007921..17008692,2	MCF-7	breast:
4	chr11:17008212..17008826-chr11:17260593..17261341,2	MCF-7	breast:
5	chr11:17007115..17010774-chr11:17033404..17036243,6	MCF-7	breast:
6	chr11:17003043..17005299-chr11:17227966..17230584,3	MCF-7	breast:
7	chr11:17010526..17011427-chr11:69706034..69706819,2	MCF-7	breast:
8	chr11:16977974..16978869-chr11:17010653..17011499,5	MCF-7	breast:
9	chr11:16976871..16981000-chr11:17000472..17004649,3	MCF-7	breast:
10	chr11:17000932..17002613-chr11:17006244..17008801,2	MCF-7	breast:
11	chr11:16978219..16978915-chr11:17003760..17004705,2	MCF-7	breast:
12	chr11:17009264..17011620-chr11:17027061..17029636,2	MCF-7	breast:
13	chr11:17001912..17011357-chr11:17032509..17037700,15	MCF-7	breast:
14	chr11:17009150..17011174-chr11:17092627..17094497,2	MCF-7	breast:
15	chr11:17004144..17005868-chr11:17008994..17011886,3	MCF-7	breast:
16	chr11:16977971..16978941-chr11:17010604..17011618,29	MCF-7	breast:
17	chr11:17011062..17011590-chr11:17260704..17261432,2	MCF-7	breast:
18	chr11:16978219..16978915-chr11:17003760..17004740,5	MCF-7	breast:
19	chr11:17008749..17010885-chr11:17026366..17028840,2	MCF-7	breast:
20	chr11:17008798..17010671-chr11:17099542..17102207,2	MCF-7	breast:
21	chr11:17002569..17005587-chr11:17010572..17013703,3	K562	blood:
22	chr11:16997178..16999092-chr11:17003135..17008712,4	MCF-7	breast:
23	chr11:16999245..17001608-chr11:17002120..17006650,5	MCF-7	breast:
24	chr11:17006921..17009898-chr11:17019659..17022087,3	MCF-7	breast:
25	chr11:16964831..16967704-chr11:17003456..17005667,3	MCF-7	breast:
26	chr11:16981332..16983715-chr11:17008993..17011024,2	MCF-7	breast:
27	chr11:16977925..16979137-chr11:17007771..17009326,6	MCF-7	breast:
28	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
29	chr11:17007364..17008907-chr11:17013978..17016924,2	MCF-7	breast:
30	chr11:16977908..16978974-chr11:17010587..17011618,48	MCF-7	breast:
31	chr11:16990664..16992333-chr11:17006870..17009444,2	MCF-7	breast:
32	chr11:17004144..17005868-chr11:17008994..17011886,3	MCF-7	breast:
33	chr11:16977925..16978855-chr11:17007771..17009390,6	MCF-7	breast:
34	chr11:17010780..17015542-chr11:17031310..17035315,5	MCF-7	breast:
35	chr11:17002569..17005587-chr11:17010572..17013703,3	K562	blood:
36	chr11:17011405..17013147-chr11:17013482..17015082,2	MCF-7	breast:
37	chr11:16981957..16983634-chr11:17005634..17007658,3	MCF-7	breast:
38	chr11:16976889..16978865-chr11:17008807..17011495,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070081	chromatin interactions
ENSG00000166689	chromatin interactions
ENSG00000184669	chromatin interactions
ENSG00000011405	chromatin interactions
ENSG00000244398	chromatin interactions
ENSG00000266493	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546780356	chr11:17003416-17003417	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs531293066	chr11:17003452-17003453	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs146032758	chr11:17003487-17003488	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs532697368	chr11:17003515-17003516	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs551223206	chr11:17003537-17003538	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs370399909	chr11:17003538-17003539	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs188897198	chr11:17003588-17003589	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs554739636	chr11:17003592-17003593	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs566565252	chr11:17003593-17003594	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs555173179	chr11:17003596-17003597	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs534029621	chr11:17003598-17003599	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs558789731	chr11:17003658-17003659	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs576931011	chr11:17003670-17003671	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs35592977	chr11:17003672-17003673	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs537763287	chr11:17003701-17003702	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs556392790	chr11:17003709-17003710	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs113780909	chr11:17003727-17003728	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs6486332	chr11:17003732-17003733	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542594356	chr11:17003747-17003748	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs200759471	chr11:17003774-17003775	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs572997168	chr11:17003814-17003815	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs114843372	chr11:17003865-17003866	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs4757469	chr11:17003898-17003899	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532713201	chr11:17003908-17003909	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs551018604	chr11:17003986-17003987	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs139135951	chr11:17004015-17004016	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs61147221	chr11:17004018-17004019	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs548207532	chr11:17004088-17004089	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs7127818	chr11:17004090-17004091	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533885863	chr11:17004140-17004141	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs552264974	chr11:17004145-17004146	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs4757470	chr11:17004150-17004151	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538019709	chr11:17004167-17004168	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs4237715	chr11:17004189-17004190	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373295459	chr11:17004198-17004199	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs56200361	chr11:17004220-17004221	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs574665979	chr11:17004239-17004240	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373097013	chr11:17004240-17004241	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs74415167	chr11:17004264-17004265	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs554545727	chr11:17004269-17004270	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs572860854	chr11:17004315-17004316	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs71455901	chr11:17004327-17004328	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs566695753	chr11:17004333-17004334	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs35725815	chr11:17004353-17004354	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs28461541	chr11:17004365-17004366	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs28508410	chr11:17004367-17004368	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs28463455	chr11:17004378-17004379	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs113285285	chr11:17004379-17004380	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs113873924	chr11:17004380-17004381	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs555278365	chr11:17004386-17004387	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
T-cell prolymphocytic leukemia	19278963	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

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
2	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
3	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
6	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:16998600-17004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:16998800-17007800	Genic enhancers	Fetal Intestine Small	intestine
9	chr11:17000600-17004600	Enhancers	Fetal Intestine Large	intestine
10	chr11:17000600-17011800	Enhancers	Pancreas	Pancrea
11	chr11:17000800-17006200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:17001200-17003400	Enhancers	Brain Hippocampus Middle	brain
13	chr11:17001200-17003600	Enhancers	Brain Cingulate Gyrus	brain
14	chr11:17001200-17004600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:17001200-17004800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:17001400-17004200	Enhancers	Fetal Muscle Trunk	muscle
17	chr11:17001400-17004800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:17001400-17005000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:17001400-17005200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:17001400-17005200	Enhancers	Brain Angular Gyrus	brain
21	chr11:17001400-17005400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:17001400-17010600	Enhancers	Placenta	Placenta
23	chr11:17001600-17004000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:17001600-17005200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:17001800-17003800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:17001800-17004000	Enhancers	NH-A	brain
27	chr11:17001800-17006600	Weak transcription	Liver	Liver
28	chr11:17002000-17004800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:17002000-17006000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:17002400-17004400	Enhancers	HMEC	breast
31	chr11:17002600-17003600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:17002600-17003800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:17002600-17004000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:17002600-17004200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:17002600-17004200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:17002600-17004800	Enhancers	Fetal Muscle Leg	muscle
37	chr11:17002600-17005000	Enhancers	Fetal Kidney	kidney
38	chr11:17002800-17003400	Enhancers	Esophagus	oesophagus
39	chr11:17002800-17003400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:17002800-17003800	Enhancers	Fetal Brain Male	brain
41	chr11:17002800-17004000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr11:17002800-17004000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:17002800-17004000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:17002800-17004000	Enhancers	HSMM	muscle
45	chr11:17002800-17004000	Enhancers	HSMMtube	muscle
46	chr11:17002800-17004200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr11:17002800-17004200	Enhancers	Brain Germinal Matrix	brain
48	chr11:17002800-17004200	Enhancers	Fetal Lung	lung
49	chr11:17002800-17004200	Enhancers	Stomach Smooth Muscle	stomach
50	chr11:17002800-17004400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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