Variant report

Variant	esv3328524
Chromosome Location	chr11:8944377-8944745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8703292..8705665-chr11:8944636..8946254,2	MCF-7	breast:
2	chr11:8718539..8720292-chr11:8944673..8947181,2	K562	blood:
3	chr11:8941546..8948177-chr11:8950032..8955141,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKIP1-4	chr11:8944664-8944779	l_430_chr11:8943833-8946286_ovary

Variant related genes	Relation type
ENSG00000176029	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000166444	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532269129	chr11:8944382-8944383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577434493	chr11:8944423-8944424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72852733	chr11:8944439-8944440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549652465	chr11:8944452-8944453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs183236650	chr11:8944470-8944471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368680615	chr11:8944479-8944480	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185915765	chr11:8944493-8944494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376236053	chr11:8944538-8944539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190737492	chr11:8944542-8944543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138610900	chr11:8944549-8944550	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2653599	chr11:8944571-8944572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183043733	chr11:8944580-8944581	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187901497	chr11:8944585-8944586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538633150	chr11:8944586-8944587	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539707133	chr11:8944627-8944628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191899029	chr11:8944639-8944640	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573227039	chr11:8944676-8944677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs538090955	chr11:8944709-8944710	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8933400-8947800	Weak transcription	Small Intestine	intestine
2	chr11:8934000-8952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:8934200-8948800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:8936200-8945800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:8936400-8946000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:8936400-8946800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:8936400-8951200	Weak transcription	Right Atrium	heart
8	chr11:8936600-8945000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:8936600-8945800	Weak transcription	Stomach Mucosa	stomach
10	chr11:8936600-8946600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:8936600-8948600	Strong transcription	Fetal Thymus	thymus
12	chr11:8936600-8949000	Strong transcription	Fetal Stomach	stomach
13	chr11:8936600-8954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:8936800-8947000	Strong transcription	Dnd41	blood
15	chr11:8936800-8947600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:8937000-8947600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:8937000-8948200	Strong transcription	Fetal Brain Female	brain
18	chr11:8937200-8945000	Strong transcription	Brain Angular Gyrus	brain
19	chr11:8937200-8947400	Strong transcription	Thymus	Thymus
20	chr11:8937600-8944800	Strong transcription	Hela-S3	cervix
21	chr11:8937800-8947400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:8938000-8944600	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr11:8938000-8944800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:8938000-8944800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:8938000-8944800	Strong transcription	Fetal Intestine Large	intestine
26	chr11:8938000-8945000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:8938000-8945000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:8938000-8945800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:8938000-8946400	Strong transcription	Brain Hippocampus Middle	brain
30	chr11:8938000-8946600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:8938000-8946800	Strong transcription	Liver	Liver
32	chr11:8938000-8947400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:8938000-8947600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:8938200-8944800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr11:8938200-8947000	Strong transcription	Brain Anterior Caudate	brain
36	chr11:8938200-8947200	Strong transcription	Brain Germinal Matrix	brain
37	chr11:8938400-8945000	Strong transcription	Brain Substantia Nigra	brain
38	chr11:8938400-8945000	Strong transcription	Right Ventricle	heart
39	chr11:8938400-8946800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:8938600-8944800	Strong transcription	Placenta	Placenta
41	chr11:8938600-8945000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:8938600-8945200	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr11:8938600-8946600	Weak transcription	Psoas Muscle	Psoas
44	chr11:8939000-8944800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:8939000-8945200	Strong transcription	A549	lung
46	chr11:8939000-8946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:8939000-8947400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:8939000-8947600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:8939000-8948200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:8939200-8945000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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