Variant report

Variant	nsv553563
Chromosome Location	chr11:16206658-16259405
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:43)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:
2	chr11:16235541..16237281-chr11:16252412..16254092,2	K562	blood:
3	chr11:16198617..16200800-chr11:16214986..16217270,2	K562	blood:
4	chr11:16253250..16255469-chr11:16319154..16321553,2	K562	blood:
5	chr11:16209269..16212267-chr11:16243598..16245269,2	K562	blood:
6	chr11:16235541..16237281-chr11:16252412..16254092,2	K562	blood:
7	chr11:16199096..16201886-chr11:16205151..16207192,2	MCF-7	breast:
8	chr11:16212554..16213580-chr11:16627486..16628319,3	MCF-7	breast:
9	chr11:16256169..16258785-chr11:16346996..16349123,2	K562	blood:
10	chr11:16226649..16230230-chr11:16231608..16235450,4	K562	blood:
11	chr11:16209269..16212267-chr11:16243598..16245269,2	K562	blood:
12	chr11:16251402..16252987-chr11:16626584..16628103,2	K562	blood:
13	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:
14	chr11:16215659..16217331-chr11:16627513..16629554,2	K562	blood:
15	chr11:16252253..16255458-chr11:16256326..16259202,3	K562	blood:
16	chr11:16253958..16256004-chr11:16256326..16259109,2	K562	blood:
17	chr11:16218926..16220596-chr11:16221268..16223735,2	K562	blood:
18	chr11:16213165..16216422-chr11:16216965..16220387,3	K562	blood:
19	chr11:16251614..16253946-chr11:16259376..16260960,2	K562	blood:
20	chr11:16252253..16255458-chr11:16256326..16259202,3	K562	blood:
21	chr11:16248287..16249803-chr11:16256816..16258558,2	K562	blood:
22	chr11:16219560..16222671-chr11:16224548..16227962,3	K562	blood:
23	chr11:16248287..16249803-chr11:16256816..16258558,2	K562	blood:
24	chr11:16215320..16217059-chr11:16240927..16242475,2	K562	blood:
25	chr11:16218926..16220596-chr11:16221268..16223735,2	K562	blood:
26	chr11:16258646..16260759-chr11:16262336..16265198,2	K562	blood:
27	chr11:16226649..16230230-chr11:16231608..16235450,4	K562	blood:
28	chr11:16215320..16217059-chr11:16240927..16242475,2	K562	blood:
29	chr11:16212721..16213531-chr11:16627544..16628402,2	K562	blood:
30	chr11:16253830..16255900-chr11:16301377..16303054,2	K562	blood:
31	chr11:16240077..16244324-chr11:16251034..16255034,5	K562	blood:
32	chr11:16212664..16213531-chr11:16634934..16635871,3	K562	blood:
33	chr11:16240077..16244324-chr11:16251034..16255034,5	K562	blood:
34	chr11:16253958..16256004-chr11:16256326..16259109,2	K562	blood:
35	chr11:16254286..16256657-chr11:16264384..16267054,2	K562	blood:
36	chr11:16219560..16222671-chr11:16224548..16227962,3	K562	blood:
37	chr11:16215831..16218271-chr11:16626703..16629554,2	K562	blood:
38	chr11:16213881..16214546-chr11:16634890..16635879,2	K562	blood:
39	chr11:16251614..16253946-chr11:16259376..16260960,2	K562	blood:
40	chr11:16213165..16216422-chr11:16216965..16220387,3	K562	blood:
41	chr11:16254762..16258115-chr11:16260794..16264082,4	K562	blood:
42	chr11:16206684..16208896-chr11:16625530..16628069,2	K562	blood:
43	chr11:16245998..16247921-chr11:16262395..16264566,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHA7-5	chr11:16221974-16222435	NONHSAT018173

No data

Variant related genes	Relation type
ENSG00000110693	chromatin interactions

Extended variants
information (count: 1687 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1687 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3903292	chr11:16206658-16206659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117000698	chr11:16206715-16206716	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192795603	chr11:16206725-16206726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574055968	chr11:16206771-16206772	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541307550	chr11:16206792-16206793	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376859750	chr11:16206794-16206795	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541574768	chr11:16206809-16206810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116499916	chr11:16206818-16206819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559043488	chr11:16206836-16206837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145837780	chr11:16206851-16206852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116980447	chr11:16206883-16206884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577012981	chr11:16206897-16206898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149053736	chr11:16206917-16206918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564002832	chr11:16206918-16206919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530481273	chr11:16206948-16206949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12789999	chr11:16206967-16206968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374628257	chr11:16207004-16207005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528182257	chr11:16207041-16207042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546714737	chr11:16207076-16207077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571333989	chr11:16207077-16207078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532371730	chr11:16207138-16207139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550427475	chr11:16207206-16207207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1455112	chr11:16207209-16207210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568833651	chr11:16207240-16207241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537005196	chr11:16207258-16207259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548978761	chr11:16207308-16207309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184842979	chr11:16207317-16207318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189298397	chr11:16207322-16207323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556389988	chr11:16207323-16207324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180757997	chr11:16207416-16207417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553458056	chr11:16207421-16207422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1455113	chr11:16207443-16207444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539248105	chr11:16207491-16207492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542179657	chr11:16207557-16207558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35844371	chr11:16207624-16207625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549837674	chr11:16207645-16207646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560742062	chr11:16207651-16207652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563422072	chr11:16207674-16207675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114838088	chr11:16207718-16207719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576011766	chr11:16207719-16207720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184770233	chr11:16207769-16207770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189202449	chr11:16207839-16207840	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75655581	chr11:16207843-16207844	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181579464	chr11:16207863-16207864	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs367882216	chr11:16207882-16207883	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532148147	chr11:16207947-16207948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77396032	chr11:16208022-16208023	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562405062	chr11:16208028-16208029	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528125874	chr11:16208054-16208055	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548128038	chr11:16208061-16208062	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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
Ependymoma	20639864	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16197000-16207600	Weak transcription	Fetal Heart	heart
2	chr11:16205200-16207000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:16205400-16208400	Enhancers	Liver	Liver
4	chr11:16205600-16207000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:16205600-16207200	Enhancers	Fetal Intestine Large	intestine
6	chr11:16205600-16207200	Enhancers	NHLF	lung
7	chr11:16205800-16207000	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:16205800-16207000	Enhancers	NHDF-Ad	bronchial
9	chr11:16205800-16207600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:16206000-16206800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:16206000-16206800	Enhancers	HUVEC	blood vessel
12	chr11:16206000-16207800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:16206200-16206800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:16206200-16206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:16206200-16206800	Flanking Active TSS	A549	lung
16	chr11:16206200-16206800	Enhancers	NH-A	brain
17	chr11:16206200-16207000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:16206200-16207000	Enhancers	Stomach Mucosa	stomach
19	chr11:16206200-16207200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:16206200-16208400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:16206400-16206800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:16206400-16206800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:16206400-16206800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:16206400-16206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:16206400-16206800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr11:16206400-16206800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:16206400-16206800	Flanking Active TSS	HepG2	liver
28	chr11:16206400-16206800	Enhancers	Osteobl	bone
29	chr11:16206400-16207000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:16206400-16207200	Enhancers	Fetal Intestine Small	intestine
31	chr11:16206400-16207200	Enhancers	Psoas Muscle	Psoas
32	chr11:16206400-16208000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:16206600-16207000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:16206600-16212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:16206800-16207800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr11:16206800-16208000	Enhancers	A549	lung
37	chr11:16206800-16208600	Enhancers	HepG2	liver
38	chr11:16206800-16212800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:16206800-16213000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:16206800-16215800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:16207000-16209400	Weak transcription	Stomach Mucosa	stomach
42	chr11:16207000-16211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:16207200-16208200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:16207200-16208400	Weak transcription	Psoas Muscle	Psoas
45	chr11:16207200-16213000	Weak transcription	NHLF	lung
46	chr11:16207200-16215400	Weak transcription	Fetal Intestine Small	intestine
47	chr11:16207200-16221200	Weak transcription	Fetal Intestine Large	intestine
48	chr11:16207600-16208000	Enhancers	Fetal Heart	heart
49	chr11:16207800-16208200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:16207800-16213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links