Variant report

Variant	esv3437606
Chromosome Location	chr11:64347576-64351774
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64348926..64351563-chr11:64356790..64358580,2	K562	blood:
2	11:64349180-64353532..11:64523887-64530985	Hela-S3	cervix:
3	chr11:64342948..64345482-chr11:64346976..64348714,2	K562	blood:
4	chr11:64350498..64353447-chr11:64359000..64361623,2	MCF-7	breast:
5	chr11:64340830..64342788-chr11:64346939..64348481,2	MCF-7	breast:
6	chr11:64349546..64351131-chr11:64352977..64355520,2	MCF-7	breast:
7	11:64349180-64353532..11:64402707-64415880	Hela-S3	cervix:
8	chr11:64323432..64325391-chr11:64351236..64353955,2	K562	blood:
9	chr11:64338669..64341159-chr11:64348595..64350491,2	K562	blood:
10	11:64349180-64353532..11:64501239-64517861	K562	blood:
11	11:64349180-64353532..11:64415880-64426617	K562	blood:
12	11:64349180-64353532..11:64489786-64499245	K562	blood:
13	chr11:64350444..64353414-chr11:64386038..64388659,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068831	chromatin interactions
ENSG00000110076	chromatin interactions
ENSG00000237410	chromatin interactions
ENSG00000068976	chromatin interactions
ENSG00000197891	chromatin interactions
ENSG00000168065	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538383756	chr11:64347639-64347640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558123703	chr11:64347641-64347642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116774324	chr11:64347665-64347666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551563419	chr11:64347687-64347688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192864566	chr11:64347698-64347699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113719803	chr11:64347720-64347721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144953259	chr11:64347748-64347749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543662159	chr11:64347841-64347842	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1212455	chr11:64347851-64347852	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148758466	chr11:64347961-64347962	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550694882	chr11:64347976-64347977	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545558605	chr11:64348043-64348044	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565086462	chr11:64348044-64348045	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527694537	chr11:64348061-64348062	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547741131	chr11:64348065-64348066	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567972793	chr11:64348072-64348073	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189546357	chr11:64348089-64348090	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs143797145	chr11:64348092-64348093	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567725612	chr11:64348228-64348229	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs538347002	chr11:64348245-64348246	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs533454024	chr11:64348255-64348256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs558230233	chr11:64348268-64348269	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs146860487	chr11:64348330-64348331	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs534624621	chr11:64348344-64348345	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs554537363	chr11:64348351-64348352	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs181395538	chr11:64348389-64348390	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs140708678	chr11:64348420-64348421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557183585	chr11:64348431-64348432	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577155677	chr11:64348441-64348442	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144538979	chr11:64348466-64348467	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs151029366	chr11:64348505-64348506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527658986	chr11:64348529-64348530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541394978	chr11:64348544-64348545	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561161371	chr11:64348545-64348546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs530321864	chr11:64348599-64348600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs150206624	chr11:64348648-64348649	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs138801303	chr11:64348649-64348650	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs556351583	chr11:64348653-64348654	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs532573535	chr11:64348658-64348659	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs113334923	chr11:64348684-64348685	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs183455940	chr11:64348694-64348695	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs79029101	chr11:64348698-64348699	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs554533837	chr11:64348741-64348742	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs148965615	chr11:64348743-64348744	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs536270121	chr11:64348746-64348747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs537340220	chr11:64348751-64348752	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs375917912	chr11:64348788-64348789	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs557302225	chr11:64348802-64348803	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs145926205	chr11:64348803-64348804	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs138854263	chr11:64348822-64348823	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Pituitary adenoma	18645599	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Chronic lymphocytic leukemia	22228453	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64334600-64348000	Weak transcription	Fetal Brain Male	brain
2	chr11:64335000-64347800	Weak transcription	Pancreas	Pancrea
3	chr11:64340400-64350400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:64344200-64348000	Weak transcription	Spleen	Spleen
5	chr11:64346000-64347800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:64347000-64347800	Enhancers	HepG2	liver
7	chr11:64347600-64348200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:64347600-64348400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:64347600-64348400	Enhancers	Brain Angular Gyrus	brain
10	chr11:64347600-64348400	Enhancers	Brain Hippocampus Middle	brain
11	chr11:64347600-64348600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:64347600-64348600	Enhancers	Fetal Muscle Leg	muscle
13	chr11:64347800-64348000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:64347800-64348200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:64347800-64348200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:64347800-64348200	Enhancers	Brain Anterior Caudate	brain
17	chr11:64347800-64348200	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:64347800-64348200	Enhancers	Ovary	ovary
19	chr11:64347800-64348200	Enhancers	Pancreas	Pancrea
20	chr11:64347800-64348400	Enhancers	Aorta	Aorta
21	chr11:64347800-64348400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:64347800-64348400	Bivalent Enhancer	Osteobl	bone
23	chr11:64347800-64348600	Enhancers	Brain Substantia Nigra	brain
24	chr11:64347800-64348600	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:64347800-64348600	Flanking Active TSS	HepG2	liver
26	chr11:64347800-64348800	Enhancers	Brain Germinal Matrix	brain
27	chr11:64348000-64348200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:64348000-64348200	Enhancers	Fetal Brain Male	brain
29	chr11:64348000-64348400	Active TSS	Spleen	Spleen
30	chr11:64348000-64349000	Enhancers	Fetal Intestine Large	intestine
31	chr11:64348200-64349200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:64348400-64350000	Weak transcription	Spleen	Spleen
33	chr11:64348600-64348800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr11:64348600-64349200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr11:64348600-64349400	Enhancers	HepG2	liver
36	chr11:64348600-64349800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:64349200-64350200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:64349800-64351600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:64350000-64350600	Active TSS	Spleen	Spleen
40	chr11:64350200-64350400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr11:64350200-64351400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:64350200-64351600	Enhancers	Adipose Nuclei	Adipose
43	chr11:64350200-64352200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:64350400-64350600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:64350400-64350600	Enhancers	Pancreas	Pancrea
46	chr11:64350400-64351800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:64350600-64351000	Enhancers	NHDF-Ad	bronchial
48	chr11:64350600-64351200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr11:64350600-64351400	Weak transcription	Spleen	Spleen
50	chr11:64350600-64351400	Enhancers	Osteobl	bone

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