Variant report

Variant	esv2757452
Chromosome Location	chr11:75198280-75201091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75196940..75199795-chr11:75215143..75217908,2	K562	blood:
2	chr11:75139447..75142443-chr11:75197047..75198712,2	MCF-7	breast:
3	chr11:75191759..75194523-chr11:75195624..75199123,4	K562	blood:

Variant related genes	Relation type
ENSG00000149243	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs954446	chr11:75198280-75198281	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs954447	chr11:75198354-75198355	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564330172	chr11:75198384-75198385	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35638573	chr11:75198466-75198467	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533492291	chr11:75198496-75198497	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556912124	chr11:75198522-75198523	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563543491	chr11:75198551-75198552	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61897413	chr11:75198631-75198632	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368914239	chr11:75198634-75198635	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142494350	chr11:75198664-75198665	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374001927	chr11:75198674-75198675	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538282351	chr11:75198702-75198703	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556149889	chr11:75198730-75198731	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577590246	chr11:75198748-75198749	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544633299	chr11:75198759-75198760	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75713567	chr11:75198815-75198816	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556913938	chr11:75198839-75198840	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188552550	chr11:75198848-75198849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556380530	chr11:75198884-75198885	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553913612	chr11:75198937-75198938	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569574627	chr11:75199109-75199110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7125082	chr11:75199138-75199139	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs589724	chr11:75199181-75199182	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs150509587	chr11:75199238-75199239	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191376338	chr11:75199267-75199268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557933802	chr11:75199349-75199350	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577776481	chr11:75199350-75199351	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543720827	chr11:75199451-75199452	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541119257	chr11:75199463-75199464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35357959	chr11:75199479-75199480	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563979329	chr11:75199529-75199530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574229424	chr11:75199580-75199581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372395037	chr11:75199593-75199594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543042617	chr11:75199636-75199637	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368832398	chr11:75199714-75199715	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559476325	chr11:75199738-75199739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528642009	chr11:75199779-75199780	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139493418	chr11:75199787-75199788	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183132921	chr11:75199840-75199841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56152186	chr11:75199846-75199847	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149689630	chr11:75199920-75199921	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186577123	chr11:75199938-75199939	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569971238	chr11:75199959-75199960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535378419	chr11:75199968-75199969	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117387469	chr11:75199984-75199985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565290741	chr11:75199993-75199994	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544108138	chr11:75200008-75200009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565408916	chr11:75200037-75200038	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191164903	chr11:75200073-75200074	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183667792	chr11:75200102-75200103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Melanoma	18172304	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
lymphocytic leukemia	21291569	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
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75187000-75201400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:75187200-75201200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:75187200-75203000	Weak transcription	Primary T cells from cord blood	blood
4	chr11:75187400-75202800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:75187400-75202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:75187400-75202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:75187400-75203000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:75187600-75201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:75187600-75202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:75187800-75201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:75188000-75201600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:75188200-75200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:75188400-75201200	Weak transcription	HSMM	muscle
14	chr11:75188400-75201400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:75188400-75201400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:75188400-75201600	Weak transcription	HSMMtube	muscle
17	chr11:75188600-75201600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:75190400-75199000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:75190400-75199200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:75190400-75207400	Weak transcription	Fetal Stomach	stomach
21	chr11:75190800-75201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:75192200-75202800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:75193000-75203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:75193800-75203200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:75194000-75203000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:75194600-75203000	Weak transcription	Lung	lung
27	chr11:75194800-75198600	Weak transcription	Adipose Nuclei	Adipose
28	chr11:75195000-75201200	Weak transcription	Spleen	Spleen
29	chr11:75196400-75202200	Strong transcription	Fetal Intestine Small	intestine
30	chr11:75196800-75199000	Weak transcription	HepG2	liver
31	chr11:75197800-75201400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:75197800-75201600	Enhancers	Brain Germinal Matrix	brain
33	chr11:75198000-75201000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:75198200-75198400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:75198200-75198600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:75198200-75198800	Weak transcription	Placenta	Placenta
37	chr11:75198200-75199000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:75198200-75201400	Strong transcription	Fetal Intestine Large	intestine
39	chr11:75198200-75203000	Weak transcription	Hela-S3	cervix
40	chr11:75198400-75201200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:75198400-75201200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:75198600-75198800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr11:75198600-75199400	Enhancers	Adipose Nuclei	Adipose
44	chr11:75198600-75203600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:75198800-75199000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr11:75198800-75199000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:75198800-75200400	Strong transcription	Placenta	Placenta
48	chr11:75199000-75200000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:75199000-75201200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:75199000-75201200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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