Variant report

Variant	esv3442757
Chromosome Location	chr11:18595343-18596606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18595002..18597166-chr11:18603669..18605204,2	MCF-7	breast:
2	chr11:18594808..18597931-chr11:18609017..18611085,3	MCF-7	breast:
3	chr11:18596231..18598962-chr11:18654372..18657232,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179119	chromatin interactions
ENSG00000151116	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551332986	chr11:18595390-18595391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139141719	chr11:18595470-18595471	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139631435	chr11:18595509-18595510	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530747832	chr11:18595604-18595605	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564836264	chr11:18595661-18595662	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549311587	chr11:18595692-18595693	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184033799	chr11:18595694-18595695	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376929059	chr11:18595758-18595759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143046062	chr11:18595767-18595768	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546576884	chr11:18595797-18595798	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571297890	chr11:18595815-18595816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147452593	chr11:18595835-18595836	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558099787	chr11:18595894-18595895	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554825807	chr11:18595897-18595898	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201966627	chr11:18595911-18595912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12280959	chr11:18595915-18595916	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573224724	chr11:18595926-18595927	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12421803	chr11:18595945-18595946	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541036758	chr11:18595980-18595981	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553327281	chr11:18595981-18595982	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs578053324	chr11:18596006-18596007	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372528467	chr11:18596011-18596012	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113550793	chr11:18596029-18596030	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187695752	chr11:18596077-18596078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192186798	chr11:18596100-18596101	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184406711	chr11:18596120-18596121	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542794346	chr11:18596137-18596138	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561174820	chr11:18596163-18596164	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144344766	chr11:18596259-18596260	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188768030	chr11:18596309-18596310	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530226481	chr11:18596330-18596331	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527410704	chr11:18596338-18596339	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs148759354	chr11:18596376-18596377	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571203180	chr11:18596377-18596378	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192871252	chr11:18596428-18596429	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs55969503	chr11:18596512-18596513	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs568832701	chr11:18596518-18596519	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142564538	chr11:18596528-18596529	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs555501688	chr11:18596545-18596546	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs567663939	chr11:18596572-18596573	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs2305167	chr11:18596580-18596581	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs34999373	chr11:18596587-18596588	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553125992	chr11:18596596-18596597	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs145982756	chr11:18596600-18596601	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21785460	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
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18549600-18608600	Weak transcription	Fetal Heart	heart
2	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
4	chr11:18549800-18600600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:18552600-18601400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:18562200-18598200	Weak transcription	Stomach Mucosa	stomach
7	chr11:18563200-18601200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:18563800-18608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:18565200-18609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:18566200-18601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:18567400-18601000	Strong transcription	Placenta	Placenta
12	chr11:18568600-18600800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:18571800-18601200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:18574400-18609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:18575000-18609200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:18575200-18609200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:18576600-18596400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:18576800-18599200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:18577400-18599200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:18578000-18600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:18578000-18608800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:18578000-18609000	Weak transcription	Right Ventricle	heart
23	chr11:18578200-18609000	Weak transcription	Primary T cells from cord blood	blood
24	chr11:18578400-18609000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:18578600-18608400	Weak transcription	Psoas Muscle	Psoas
26	chr11:18579600-18600800	Weak transcription	Colonic Mucosa	Colon
27	chr11:18580000-18595400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:18580000-18595400	Weak transcription	NH-A	brain
29	chr11:18580000-18596400	Weak transcription	HepG2	liver
30	chr11:18580000-18608600	Weak transcription	Hela-S3	cervix
31	chr11:18580200-18608600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:18581000-18609000	Weak transcription	Pancreas	Pancrea
33	chr11:18581400-18595400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:18582600-18600600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:18583000-18608200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:18583000-18609400	Weak transcription	Esophagus	oesophagus
37	chr11:18583200-18597000	Weak transcription	Brain Substantia Nigra	brain
38	chr11:18583200-18604600	Weak transcription	Gastric	stomach
39	chr11:18584200-18600200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:18584200-18608000	Weak transcription	Small Intestine	intestine
41	chr11:18584400-18609800	Weak transcription	Spleen	Spleen
42	chr11:18585000-18597400	Weak transcription	Thymus	Thymus
43	chr11:18585800-18608600	Weak transcription	Fetal Brain Female	brain
44	chr11:18586200-18596000	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:18586400-18596000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:18586400-18609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:18586800-18595400	Strong transcription	Left Ventricle	heart
48	chr11:18587200-18598800	Weak transcription	GM12878-XiMat	blood
49	chr11:18587800-18598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:18588200-18608800	Weak transcription	Fetal Kidney	kidney

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