Variant report

Variant	nsv468775
Chromosome Location	chr11:86453415-86480716
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:86457948..86461057-chr11:86510735..86514015,4	MCF-7	breast:
2	chr11:86410588..86412313-chr11:86452715..86455271,2	K562	blood:
3	chr11:86457023..86458729-chr11:86462565..86464794,3	MCF-7	breast:
4	chr11:86472552..86476130-chr11:86481757..86485497,4	MCF-7	breast:
5	chr11:86472937..86474717-chr11:86478043..86479834,2	MCF-7	breast:
6	chr11:86382693..86386959-chr11:86452814..86456123,3	MCF-7	breast:
7	chr11:86429172..86438482-chr11:86450202..86456550,9	MCF-7	breast:
8	chr11:86450401..86454128-chr11:86509734..86516006,8	MCF-7	breast:
9	chr11:86480465..86482047-chr11:86485833..86487935,2	MCF-7	breast:
10	chr11:86449893..86452658-chr11:86468673..86470208,2	MCF-7	breast:
11	chr11:86452259..86454963-chr11:86491551..86494314,2	MCF-7	breast:
12	chr11:86474930..86477199-chr11:86478962..86481017,2	K562	blood:
13	chr11:86445788..86450763-chr11:86452280..86455324,5	K562	blood:
14	chr11:86457732..86459535-chr11:86470055..86471597,2	MCF-7	breast:
15	chr11:86476625..86478672-chr11:86482969..86484752,2	K562	blood:
16	chr11:86454902..86456522-chr11:86509445..86511957,2	MCF-7	breast:
17	chr11:86464108..86466756-chr11:86468964..86470854,2	MCF-7	breast:
18	chr11:86451377..86454000-chr11:86469217..86471649,2	MCF-7	breast:
19	chr11:86381743..86384128-chr11:86455249..86457298,2	MCF-7	breast:
20	chr11:86458961..86460479-chr11:86463920..86465625,2	MCF-7	breast:
21	chr11:86346528..86348844-chr11:86457417..86460033,2	MCF-7	breast:
22	chr11:86479312..86481621-chr11:86482374..86485303,2	MCF-7	breast:
23	chr11:86473380..86474187-chr11:86487013..86487737,2	MCF-7	breast:
24	chr11:86412384..86414900-chr11:86452742..86454640,3	MCF-7	breast:
25	chr11:86447300..86456471-chr11:86483287..86490697,27	MCF-7	breast:
26	chr11:86474930..86477199-chr11:86478962..86481017,2	K562	blood:
27	chr11:86318979..86319867-chr11:86460274..86461251,4	MCF-7	breast:
28	chr11:86454835..86456464-chr11:86456517..86458512,2	K562	blood:
29	chr11:86450780..86453510-chr11:86484513..86491302,5	MCF-7	breast:
30	chr11:86453943..86454903-chr8:120844804..120845426,2	Hela-S3	cervix:
31	chr11:86456277..86457862-chr11:86528085..86530264,2	MCF-7	breast:
32	chr11:86472937..86474717-chr11:86478043..86479834,2	MCF-7	breast:
33	chr11:86461709..86463994-chr11:86499495..86501333,2	MCF-7	breast:
34	chr11:86453173..86455061-chr11:86477105..86479906,2	MCF-7	breast:
35	chr11:86463047..86464957-chr11:86484717..86487462,2	K562	blood:
36	chr11:86457023..86458729-chr11:86462565..86464794,3	MCF-7	breast:
37	chr11:86404739..86407323-chr11:86454974..86456802,2	MCF-7	breast:
38	chr11:86464300..86466562-chr11:86483037..86485838,2	MCF-7	breast:
39	chr11:86452587..86455678-chr11:86498398..86501247,3	MCF-7	breast:
40	chr11:86445705..86457398-chr11:86504607..86518485,46	MCF-7	breast:
41	chr11:86370423..86371339-chr11:86460492..86461161,2	MCF-7	breast:
42	chr11:86386903..86389522-chr11:86451138..86453581,3	MCF-7	breast:
43	chr11:86451377..86454000-chr11:86469217..86471649,2	MCF-7	breast:
44	chr11:86383122..86384948-chr11:86459289..86461430,2	MCF-7	breast:
45	chr11:86453173..86455061-chr11:86477105..86479906,2	MCF-7	breast:
46	chr11:86477814..86480068-chr11:86509970..86511895,3	MCF-7	breast:
47	chr11:86445700..86450143-chr11:86450733..86453676,4	MCF-7	breast:
48	chr11:86422351..86424027-chr11:86451990..86454405,2	MCF-7	breast:
49	chr11:86458961..86460479-chr11:86463920..86465625,2	MCF-7	breast:
50	chr11:86473333..86474209-chr11:86486972..86487899,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254731	chromatin interactions
ENSG00000150687	chromatin interactions
ENSG00000255250	chromatin interactions
ENSG00000064313	chromatin interactions
ENSG00000151376	chromatin interactions

Extended variants
information (count: 1101 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2433434	chr11:86453415-86453416	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188910883	chr11:86453518-86453519	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs17149343	chr11:86453526-86453527	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368086786	chr11:86453621-86453622	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs17819002	chr11:86453661-86453662	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192249003	chr11:86453665-86453666	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs376400356	chr11:86453689-86453690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs557297077	chr11:86453692-86453693	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs2433435	chr11:86453700-86453701	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150881283	chr11:86453743-86453744	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs138323941	chr11:86453749-86453750	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs17211787	chr11:86453783-86453784	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542150922	chr11:86453785-86453786	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs562020521	chr11:86453845-86453846	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs531079985	chr11:86453856-86453857	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs543063810	chr11:86453899-86453900	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs556798062	chr11:86453916-86453917	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs563254071	chr11:86453922-86453923	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs2433436	chr11:86453947-86453948	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183624014	chr11:86454003-86454004	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs187203699	chr11:86454004-86454005	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs4262744	chr11:86454010-86454011	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs563604793	chr11:86454039-86454040	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs530746227	chr11:86454097-86454098	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs144147413	chr11:86454118-86454119	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs548532383	chr11:86454168-86454169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs183849240	chr11:86454194-86454195	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs186935399	chr11:86454208-86454209	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs147239698	chr11:86454212-86454213	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs77888510	chr11:86454238-86454239	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs539588800	chr11:86454245-86454246	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs192469489	chr11:86454295-86454296	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs17758206	chr11:86454323-86454324	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184442932	chr11:86454341-86454342	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs73524210	chr11:86454355-86454356	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555503984	chr11:86454361-86454362	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs112603126	chr11:86454393-86454394	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs190581940	chr11:86454438-86454439	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs544845858	chr11:86454442-86454443	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs541069929	chr11:86454473-86454474	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs527865752	chr11:86454585-86454586	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs2433437	chr11:86454586-86454587	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532126414	chr11:86454630-86454631	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs368473031	chr11:86454637-86454638	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs538810717	chr11:86454640-86454641	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs545616840	chr11:86454697-86454698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs559468911	chr11:86454704-86454705	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs59502649	chr11:86454716-86454717	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs2433438	chr11:86454746-86454747	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546478025	chr11:86454760-86454761	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86446000-86458000	Enhancers	HMEC	breast
2	chr11:86446400-86455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:86446800-86455400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:86447400-86455200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:86447600-86454200	Enhancers	NHDF-Ad	bronchial
6	chr11:86447800-86453800	Enhancers	Ovary	ovary
7	chr11:86448200-86454000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:86448400-86454200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:86448400-86456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:86449000-86455000	Enhancers	Stomach Mucosa	stomach
11	chr11:86449000-86455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:86449200-86455000	Enhancers	HepG2	liver
13	chr11:86449400-86454400	Enhancers	K562	blood
14	chr11:86449600-86455600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:86449800-86455000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:86449800-86455200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:86450200-86455200	Enhancers	Stomach Smooth Muscle	stomach
18	chr11:86450200-86459800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:86450400-86455000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:86450600-86454800	Enhancers	Right Atrium	heart
21	chr11:86450600-86455200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:86450800-86454000	Enhancers	HSMMtube	muscle
23	chr11:86450800-86455000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:86450800-86455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:86451000-86453600	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:86451000-86454000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:86451000-86454800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:86451000-86455200	Enhancers	Placenta	Placenta
29	chr11:86451200-86454000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr11:86451400-86453600	Enhancers	Brain Angular Gyrus	brain
31	chr11:86452200-86453600	Enhancers	Spleen	Spleen
32	chr11:86452200-86455000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:86452200-86458000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:86452400-86453600	Enhancers	Colon Smooth Muscle	Colon
35	chr11:86452400-86454200	Weak transcription	Small Intestine	intestine
36	chr11:86452400-86454200	Enhancers	Osteobl	bone
37	chr11:86452400-86454400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:86452400-86457600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:86452600-86454000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:86452600-86454200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:86452600-86454600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:86452600-86455200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:86452800-86454200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:86452800-86454600	Enhancers	NH-A	brain
45	chr11:86452800-86455200	Enhancers	NHLF	lung
46	chr11:86453000-86453800	Enhancers	Right Ventricle	heart
47	chr11:86453000-86454400	Enhancers	Aorta	Aorta
48	chr11:86453000-86454400	Enhancers	Lung	lung
49	chr11:86453000-86454600	Enhancers	Esophagus	oesophagus
50	chr11:86453000-86454600	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links