Variant report

Variant	esv3422097
Chromosome Location	chr11:66639801-66642349
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66459650..66462162-chr11:66637854..66640560,2	K562	blood:
2	chr11:66639577..66641778-chr11:66647865..66649467,2	K562	blood:
3	chr11:66632881..66640228-chr11:66642679..66650860,16	MCF-7	breast:
4	chr11:66634682..66638253-chr11:66640416..66642598,5	MCF-7	breast:
5	chr11:66640579..66644175-chr11:66648917..66652443,5	MCF-7	breast:
6	chr11:66636341..66639567-chr11:66640880..66645266,6	K562	blood:
7	chr11:66637880..66639721-chr11:66640429..66643042,2	K562	blood:
8	chr11:66639054..66642378-chr11:66723949..66728673,4	K562	blood:
9	chr11:66639545..66642347-chr11:66725160..66728073,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173599	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535082815	chr11:66639851-66639852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142296495	chr11:66639867-66639868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116480910	chr11:66639875-66639876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189175455	chr11:66639894-66639895	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34046318	chr11:66640003-66640004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11823149	chr11:66640024-66640025	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11823180	chr11:66640027-66640028	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376023536	chr11:66640057-66640058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79519395	chr11:66640058-66640059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574981923	chr11:66640063-66640064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564857184	chr11:66640135-66640136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527277102	chr11:66640150-66640151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191456353	chr11:66640174-66640175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183601622	chr11:66640178-66640179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2380756	chr11:66640184-66640185	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573012031	chr11:66640200-66640201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549187271	chr11:66640217-66640218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189469580	chr11:66640235-66640236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537962833	chr11:66640239-66640240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374326244	chr11:66640335-66640336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558222861	chr11:66640365-66640366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577993066	chr11:66640380-66640381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2380757	chr11:66640412-66640413	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553814108	chr11:66640472-66640473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573998037	chr11:66640490-66640491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75667010	chr11:66640506-66640507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76014830	chr11:66640508-66640509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74397710	chr11:66640512-66640513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562685380	chr11:66640517-66640518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576297142	chr11:66640547-66640548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544824406	chr11:66640618-66640619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2380758	chr11:66640656-66640657	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141351988	chr11:66640820-66640821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181820247	chr11:66640827-66640828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186865018	chr11:66640835-66640836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7926633	chr11:66640880-66640881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561298740	chr11:66640890-66640891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528483583	chr11:66640898-66640899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369170753	chr11:66640992-66640993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs386374039	chr11:66640993-66640994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10676576	chr11:66640995-66640996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529544674	chr11:66641063-66641064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549224443	chr11:66641073-66641074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150372680	chr11:66641115-66641116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76869049	chr11:66641179-66641180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546753507	chr11:66641184-66641185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138103239	chr11:66641247-66641248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs149457102	chr11:66641301-66641302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145310361	chr11:66641311-66641312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574044559	chr11:66641348-66641349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66624200-66645000	Weak transcription	Fetal Kidney	kidney
2	chr11:66624400-66640200	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:66625000-66648800	Weak transcription	Right Atrium	heart
4	chr11:66625400-66642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:66625400-66642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:66625400-66645400	Weak transcription	Fetal Lung	lung
7	chr11:66625400-66645800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:66625400-66648000	Weak transcription	Left Ventricle	heart
9	chr11:66625400-66650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:66625800-66650800	Weak transcription	Osteobl	bone
11	chr11:66627000-66643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:66627400-66642400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66627800-66650000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:66629800-66645600	Weak transcription	Pancreas	Pancrea
15	chr11:66630200-66645600	Weak transcription	NHLF	lung
16	chr11:66633600-66648000	Weak transcription	Psoas Muscle	Psoas
17	chr11:66635200-66640000	Strong transcription	Brain Hippocampus Middle	brain
18	chr11:66636400-66641800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:66636600-66648000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:66636800-66642400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:66636800-66642400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:66636800-66644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:66636800-66645600	Weak transcription	Fetal Thymus	thymus
24	chr11:66636800-66646400	Weak transcription	Stomach Mucosa	stomach
25	chr11:66636800-66647800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:66636800-66647800	Weak transcription	Thymus	Thymus
27	chr11:66636800-66648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:66636800-66650800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:66637000-66643600	Weak transcription	K562	blood
30	chr11:66637200-66640000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:66637200-66642400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:66637200-66644000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:66638000-66650000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:66638600-66650200	Weak transcription	Fetal Intestine Large	intestine
35	chr11:66639000-66646600	Weak transcription	Brain Germinal Matrix	brain
36	chr11:66639000-66648000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:66639000-66657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:66639200-66645200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:66639200-66646000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:66639200-66646200	Weak transcription	Brain Substantia Nigra	brain
41	chr11:66639200-66646400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:66639200-66646600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:66639200-66647800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:66639200-66649600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:66639200-66649800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:66639200-66657400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:66639400-66641800	Weak transcription	A549	lung
48	chr11:66639400-66642000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:66639400-66642000	Weak transcription	Adipose Nuclei	Adipose
50	chr11:66639400-66642000	Weak transcription	Hela-S3	cervix

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