Variant report

Variant	esv1819846
Chromosome Location	chr11:9316937-9324496
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9285320..9287424-chr11:9318280..9320535,2	K562	blood:
2	chr11:9316306..9317973-chr11:9319550..9321312,2	K562	blood:
3	chr11:9321121..9324155-chr11:9406069..9408356,3	K562	blood:
4	chr11:9324025..9326025-chr11:9386165..9388976,2	K562	blood:
5	chr11:9316306..9317973-chr11:9319550..9321312,2	K562	blood:
6	chr11:9320121..9322582-chr11:9335462..9337660,2	K562	blood:
7	chr11:9316943..9319199-chr11:9321655..9323938,2	K562	blood:
8	chr11:9323308..9325382-chr11:9329913..9332100,2	K562	blood:
9	chr11:9315035..9317073-chr11:9404737..9406993,2	K562	blood:
10	chr11:9316943..9319199-chr11:9321655..9323938,2	K562	blood:
11	chr11:9320121..9324688-chr11:9334835..9338165,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205339	chromatin interactions
ENSG00000184014	chromatin interactions
ENSG00000166471	chromatin interactions

Extended variants
information (count: 319 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:319 , 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	rs4601780	chr11:9316937-9316938	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564102170	chr11:9316979-9316980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140639494	chr11:9317093-9317094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534012720	chr11:9317098-9317099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533129337	chr11:9317100-9317101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187074877	chr11:9317116-9317117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137953564	chr11:9317157-9317158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556287941	chr11:9317180-9317181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576144354	chr11:9317270-9317271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182051940	chr11:9317288-9317289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565573745	chr11:9317363-9317364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572618581	chr11:9317421-9317422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541696418	chr11:9317424-9317425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185148312	chr11:9317460-9317461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530231463	chr11:9317466-9317467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549903116	chr11:9317509-9317510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189854584	chr11:9317517-9317518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12805541	chr11:9317530-9317531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12805550	chr11:9317540-9317541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532375328	chr11:9317605-9317606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35732309	chr11:9317640-9317641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552261378	chr11:9317689-9317690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145701164	chr11:9317700-9317701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138308297	chr11:9317733-9317734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149146164	chr11:9317750-9317751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553814022	chr11:9317832-9317833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143230249	chr11:9317833-9317834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536439338	chr11:9317851-9317852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148290200	chr11:9317931-9317932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77234947	chr11:9317952-9317953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576158456	chr11:9317998-9317999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538647766	chr11:9318036-9318037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12574882	chr11:9318098-9318099	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10770011	chr11:9318105-9318106	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138127804	chr11:9318145-9318146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75745508	chr11:9318153-9318154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10840201	chr11:9318167-9318168	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544740552	chr11:9318236-9318237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574701387	chr11:9318309-9318310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75981190	chr11:9318327-9318328	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563465152	chr11:9318350-9318351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113452064	chr11:9318382-9318383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372911597	chr11:9318383-9318384	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369239479	chr11:9318407-9318408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546261186	chr11:9318421-9318422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374979209	chr11:9318437-9318438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143620450	chr11:9318442-9318443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559515454	chr11:9318468-9318469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375838960	chr11:9318472-9318473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547413249	chr11:9318482-9318483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9319600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9287400-9332600	Weak transcription	HMEC	breast
3	chr11:9287400-9333000	Weak transcription	Gastric	stomach
4	chr11:9287600-9319200	Weak transcription	NHLF	lung
5	chr11:9287800-9328400	Weak transcription	A549	lung
6	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
8	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
10	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
14	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
15	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
16	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
18	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:9296800-9333200	Weak transcription	Ovary	ovary
20	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
23	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:9299200-9320000	Weak transcription	HSMMtube	muscle
25	chr11:9301600-9321200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
28	chr11:9302400-9320200	Weak transcription	Stomach Mucosa	stomach
29	chr11:9302600-9317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:9302600-9318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:9302600-9318400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:9302600-9320600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:9302600-9321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
36	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
37	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
38	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:9302800-9318200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:9302800-9320600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:9302800-9321600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:9302800-9334600	Weak transcription	NH-A	brain
45	chr11:9303200-9318400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:9303200-9320000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:9303200-9332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:9303200-9333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:9303400-9317000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:9303400-9320600	Weak transcription	Osteobl	bone

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