Variant report

Variant	esv3431374
Chromosome Location	chr11:64209731-64212252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:64209866-64210078	GM12891	blood:	n/a	n/a
2	USF1	chr11:64212223-64212801	ECC-1	luminal epithelium:	n/a	chr11:64212470-64212481
3	USF1	chr11:64212237-64212804	H1-hESC	embryonic stem cell:	n/a	chr11:64212470-64212481
4	USF1	chr11:64212124-64212886	HCT-116	colon:	n/a	chr11:64212470-64212481
5	USF1	chr11:64212174-64212836	ECC-1	luminal epithelium:	n/a	chr11:64212470-64212481

No.	Distal block	Cell Line	Cell type
1	chr11:64206984..64209864-chr11:64258873..64261595,2	K562	blood:
2	chr11:64209647..64212416-chr11:64219605..64222599,2	K562	blood:
3	chr11:64207176..64212453-chr11:64214728..64217084,4	MCF-7	breast:
4	chr11:64211094..64213251-chr11:64225273..64227691,2	K562	blood:
5	chr11:64204056..64205892-chr11:64210023..64212941,2	K562	blood:

Variant related genes	Relation type
ENSG00000181908	TF binding region
ENSG00000181908	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539554317	chr11:64209732-64209733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182574531	chr11:64209779-64209780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77332535	chr11:64209856-64209857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58013272	chr11:64209874-64209875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs56941849	chr11:64209891-64209892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145527363	chr11:64209898-64209899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572149928	chr11:64209932-64209933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187235176	chr11:64209944-64209945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112551779	chr11:64209949-64209950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558015164	chr11:64209969-64209970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114456308	chr11:64209975-64209976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546297939	chr11:64209997-64209998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372227050	chr11:64210048-64210049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559451999	chr11:64210146-64210147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112059314	chr11:64210152-64210153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560150936	chr11:64210161-64210162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542073729	chr11:64210163-64210164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562043333	chr11:64210191-64210192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531152387	chr11:64210194-64210195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145940414	chr11:64210255-64210256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12294863	chr11:64210307-64210308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532860657	chr11:64210308-64210309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546682282	chr11:64210311-64210312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566296403	chr11:64210324-64210325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535440056	chr11:64210326-64210327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12362958	chr11:64210335-64210336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7114050	chr11:64210343-64210344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34967198	chr11:64210350-64210351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144510992	chr11:64210385-64210386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557954999	chr11:64210400-64210401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374974873	chr11:64210510-64210511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577781654	chr11:64210533-64210534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75883448	chr11:64210579-64210580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs596308	chr11:64210652-64210653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs573306517	chr11:64210836-64210837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541814422	chr11:64210973-64210974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561780291	chr11:64210980-64210981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541556988	chr11:64211006-64211007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575511266	chr11:64211015-64211016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562315799	chr11:64211028-64211029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191889950	chr11:64211052-64211053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183704808	chr11:64211101-64211102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11231791	chr11:64211109-64211110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188048044	chr11:64211125-64211126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142931821	chr11:64211132-64211133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375372390	chr11:64211199-64211200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113031433	chr11:64211243-64211244	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568889355	chr11:64211255-64211256	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117954622	chr11:64211272-64211273	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75555566	chr11:64211280-64211281	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	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	21785460	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
Melanoma	20877625	CNVD
Autism	22209245	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64204800-64210000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:64207800-64210000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:64208000-64212400	Weak transcription	Spleen	Spleen
4	chr11:64208400-64211600	Enhancers	Fetal Brain Male	brain
5	chr11:64208400-64212400	Weak transcription	Placenta	Placenta
6	chr11:64208400-64215800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:64209000-64209800	Enhancers	Brain Hippocampus Middle	brain
8	chr11:64209000-64210000	Enhancers	GM12878-XiMat	blood
9	chr11:64209000-64210800	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:64209200-64210200	Enhancers	Primary B cells from cord blood	blood
11	chr11:64209400-64210400	Weak transcription	Fetal Brain Female	brain
12	chr11:64209600-64209800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:64209600-64209800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:64209800-64212000	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:64209800-64212400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:64209800-64215400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:64209800-64215800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:64210000-64211800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:64210000-64212400	Weak transcription	GM12878-XiMat	blood
20	chr11:64210000-64213000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:64210200-64215000	Weak transcription	Primary B cells from cord blood	blood
22	chr11:64210400-64211400	Enhancers	Fetal Brain Female	brain
23	chr11:64210600-64216200	Weak transcription	Right Atrium	heart
24	chr11:64210800-64211000	Enhancers	Brain Substantia Nigra	brain
25	chr11:64210800-64215200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:64211000-64212600	Weak transcription	Brain Substantia Nigra	brain
27	chr11:64211200-64211400	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr11:64211400-64215000	Weak transcription	Fetal Brain Female	brain
29	chr11:64211600-64215200	Weak transcription	Fetal Brain Male	brain
30	chr11:64211800-64215200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:64212000-64212200	Enhancers	Psoas Muscle	Psoas
32	chr11:64212000-64212600	Enhancers	Fetal Muscle Leg	muscle
33	chr11:64212000-64213000	Enhancers	Brain Hippocampus Middle	brain
34	chr11:64212200-64212600	Enhancers	Skeletal Muscle Male	skeletal muscle

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