Variant report

Variant	esv3359911
Chromosome Location	chr11:36307601-36310149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:36308553..36310519-chr3:28494833..28496353,2	K562	blood:
2	chr11:36303032..36306180-chr11:36307506..36310865,3	K562	blood:
3	chr11:36281244..36283748-chr11:36307476..36309302,2	MCF-7	breast:
4	chr11:36309810..36312786-chr11:36530434..36531939,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175104	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539858087	chr11:36307646-36307647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187264770	chr11:36307678-36307679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369134842	chr11:36307727-36307728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192877805	chr11:36307733-36307734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548761339	chr11:36307814-36307815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183386009	chr11:36307816-36307817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111280528	chr11:36307848-36307849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187976373	chr11:36307915-36307916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143216751	chr11:36307933-36307934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367598540	chr11:36307943-36307944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11033525	chr11:36307944-36307945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138463305	chr11:36307962-36307963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56754697	chr11:36307963-36307964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138230918	chr11:36307976-36307977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61190360	chr11:36307989-36307990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571580539	chr11:36307993-36307994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398075856	chr11:36307998-36307999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397745562	chr11:36307999-36308000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73443110	chr11:36308013-36308014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545386876	chr11:36308044-36308045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557401639	chr11:36308064-36308065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547022386	chr11:36308084-36308085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146863591	chr11:36308100-36308101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566714388	chr11:36308136-36308137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576438482	chr11:36308147-36308148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371701109	chr11:36308148-36308149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535986061	chr11:36308173-36308174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376593669	chr11:36308181-36308182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575820832	chr11:36308193-36308194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114336580	chr11:36308212-36308213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575448706	chr11:36308248-36308249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11033526	chr11:36308255-36308256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs540477150	chr11:36308293-36308294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201800446	chr11:36308302-36308303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11033527	chr11:36308305-36308306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs192723638	chr11:36308324-36308325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542736340	chr11:36308334-36308335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562428678	chr11:36308379-36308380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531400741	chr11:36308389-36308390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368141191	chr11:36308390-36308391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565029021	chr11:36308441-36308442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527595819	chr11:36308445-36308446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138625386	chr11:36308453-36308454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183599615	chr11:36308466-36308467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529248624	chr11:36308490-36308491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189540097	chr11:36308558-36308559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201611441	chr11:36308596-36308597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199755276	chr11:36308601-36308602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113053181	chr11:36308604-36308605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201050783	chr11:36308606-36308607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36288000-36310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:36290800-36310400	Weak transcription	Stomach Mucosa	stomach
3	chr11:36292000-36309600	Weak transcription	Psoas Muscle	Psoas
4	chr11:36292200-36309600	Weak transcription	A549	lung
5	chr11:36295000-36310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:36296400-36309800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:36296600-36309600	Weak transcription	Fetal Lung	lung
8	chr11:36296600-36309600	Weak transcription	NHLF	lung
9	chr11:36298200-36310000	Weak transcription	NHDF-Ad	bronchial
10	chr11:36298400-36309400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:36300600-36309600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:36300600-36309600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:36300600-36309600	Weak transcription	Right Ventricle	heart
14	chr11:36300800-36309200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:36300800-36309600	Weak transcription	Pancreas	Pancrea
16	chr11:36300800-36309600	Weak transcription	Spleen	Spleen
17	chr11:36300800-36310000	Weak transcription	Colonic Mucosa	Colon
18	chr11:36300800-36310000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:36300800-36310000	Weak transcription	Gastric	stomach
20	chr11:36301000-36309200	Weak transcription	Dnd41	blood
21	chr11:36301000-36309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:36301000-36309600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:36301000-36309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:36301000-36309800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:36301200-36309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:36301200-36309400	Weak transcription	HepG2	liver
27	chr11:36301200-36309600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:36301200-36309800	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:36301200-36310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:36301400-36309200	Weak transcription	Brain Angular Gyrus	brain
31	chr11:36301400-36309400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:36301400-36309600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:36301600-36310000	Weak transcription	Placenta	Placenta
34	chr11:36301800-36309200	Weak transcription	Fetal Brain Female	brain
35	chr11:36301800-36309600	Weak transcription	Left Ventricle	heart
36	chr11:36301800-36310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:36302000-36309200	Weak transcription	Liver	Liver
38	chr11:36302000-36310000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:36302000-36310000	Weak transcription	Thymus	Thymus
40	chr11:36302200-36309400	Weak transcription	HUVEC	blood vessel
41	chr11:36302200-36309600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:36302200-36309600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:36302200-36310000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:36302400-36309400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:36302400-36309400	Weak transcription	Adipose Nuclei	Adipose
46	chr11:36302400-36309600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:36302400-36309600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:36302400-36309600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:36302400-36310000	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:36302400-36310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links