Variant report

Variant	esv19003
Chromosome Location	chr11:73394993-73398426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73375007..73377512-chr11:73395012..73396634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252732	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148740064	chr11:73395043-73395044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149520024	chr11:73395099-73395100	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554466352	chr11:73395104-73395105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567982649	chr11:73395204-73395205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532757584	chr11:73395210-73395211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs66818546	chr11:73395213-73395214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200615865	chr11:73395215-73395216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79704504	chr11:73395216-73395217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78979436	chr11:73395226-73395227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397711180	chr11:73395227-73395228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79571895	chr11:73395228-73395229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577162337	chr11:73395290-73395291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7927322	chr11:73395317-73395318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540718610	chr11:73395362-73395363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2722712	chr11:73395407-73395408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191576715	chr11:73395460-73395461	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182991561	chr11:73395523-73395524	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35169180	chr11:73395558-73395559	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542413453	chr11:73395598-73395599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562383448	chr11:73395614-73395615	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528026284	chr11:73395647-73395648	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541358431	chr11:73395651-73395652	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560134745	chr11:73395671-73395672	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531973798	chr11:73395712-73395713	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552253933	chr11:73395788-73395789	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147842914	chr11:73395806-73395807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529892372	chr11:73395809-73395810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141207251	chr11:73395827-73395828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531420381	chr11:73395833-73395834	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548018037	chr11:73395851-73395852	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567894707	chr11:73395868-73395869	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534141021	chr11:73395929-73395930	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117631220	chr11:73395943-73395944	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187320848	chr11:73395969-73395970	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371693391	chr11:73396000-73396001	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556715952	chr11:73396032-73396033	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576569989	chr11:73396033-73396034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542327755	chr11:73396039-73396040	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12420357	chr11:73396061-73396062	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs115727471	chr11:73396066-73396067	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563487869	chr11:73396070-73396071	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541720684	chr11:73396073-73396074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146198233	chr11:73396126-73396127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192670835	chr11:73396185-73396186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545449600	chr11:73396241-73396242	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562131223	chr11:73396244-73396245	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531336058	chr11:73396264-73396265	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547875357	chr11:73396265-73396266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567951857	chr11:73396285-73396286	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527453038	chr11:73396294-73396295	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73372400-73395400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:73374400-73427200	Weak transcription	A549	lung
3	chr11:73375200-73404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:73375800-73400000	Weak transcription	Lung	lung
5	chr11:73375800-73416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:73376200-73395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:73376200-73398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:73376600-73399200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:73376600-73400000	Weak transcription	Spleen	Spleen
10	chr11:73377000-73400000	Weak transcription	Psoas Muscle	Psoas
11	chr11:73381800-73400000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:73382200-73399000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
14	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
15	chr11:73382400-73421600	Weak transcription	Gastric	stomach
16	chr11:73382800-73400400	Weak transcription	Pancreas	Pancrea
17	chr11:73383200-73399000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:73383400-73427200	Weak transcription	Fetal Heart	heart
19	chr11:73383800-73395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:73384000-73427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:73384800-73401800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:73385600-73395400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:73385600-73398800	Weak transcription	Aorta	Aorta
25	chr11:73385800-73411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:73386400-73395200	Weak transcription	Thymus	Thymus
27	chr11:73386400-73397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:73386600-73399400	Weak transcription	Esophagus	oesophagus
29	chr11:73386800-73399400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:73387000-73395200	Weak transcription	Ovary	ovary
31	chr11:73387400-73410800	Weak transcription	Colonic Mucosa	Colon
32	chr11:73388000-73396000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:73388200-73395600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:73388200-73396200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:73388200-73396600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:73388400-73395800	Weak transcription	HMEC	breast
37	chr11:73388400-73396200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:73388400-73398000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:73389000-73399400	Weak transcription	Left Ventricle	heart
40	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
41	chr11:73389200-73397200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:73389200-73398800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:73389200-73400200	Weak transcription	Fetal Kidney	kidney
44	chr11:73389200-73400800	Strong transcription	Fetal Intestine Small	intestine
45	chr11:73389200-73404800	Weak transcription	K562	blood
46	chr11:73389200-73410600	Weak transcription	Brain Angular Gyrus	brain
47	chr11:73389200-73416800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:73389200-73427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
50	chr11:73389400-73395000	Weak transcription	NHDF-Ad	bronchial

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