Variant report

Variant	esv3462152
Chromosome Location	chr11:63785928-63786846
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63784023..63786647-chr11:64006820..64008419,2	K562	blood:
2	chr11:63784829..63787587-chr11:63914162..63915972,2	K562	blood:
3	chr11:63785744..63788442-chr11:63789350..63791751,2	MCF-7	breast:
4	chr11:63785215..63787777-chr11:63931755..63933922,2	MCF-7	breast:
5	chr11:63781876..63786325-chr11:63787038..63791246,5	K562	blood:
6	chr11:63779470..63782792-chr11:63782839..63786863,3	K562	blood:
7	chr11:63779234..63782933-chr11:63784307..63787917,5	MCF-7	breast:
8	chr11:63785398..63788201-chr11:63813815..63816275,2	K562	blood:
9	chr11:63785453..63787143-chr11:63789041..63790894,2	MCF-7	breast:
10	chr11:63753737..63755797-chr11:63784584..63787188,3	MCF-7	breast:
11	chr11:63783548..63786701-chr11:63788773..63791378,4	K562	blood:
12	chr11:63786154..63788188-chr11:63951633..63953314,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133315	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000167770	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568930	chr11:63785960-63785961	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369733470	chr11:63785971-63785972	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542478364	chr11:63785995-63785996	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs117927754	chr11:63786013-63786014	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375284240	chr11:63786070-63786071	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531509896	chr11:63786081-63786082	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138056821	chr11:63786124-63786125	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564836382	chr11:63786244-63786245	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs143523617	chr11:63786249-63786250	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs546959071	chr11:63786265-63786266	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566882788	chr11:63786272-63786273	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs73496100	chr11:63786338-63786339	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549327200	chr11:63786352-63786353	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs1843745	chr11:63786365-63786366	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs145594708	chr11:63786378-63786379	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs117411480	chr11:63786380-63786381	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs569433474	chr11:63786393-63786394	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs145821458	chr11:63786409-63786410	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs368080900	chr11:63786441-63786442	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs116473046	chr11:63786514-63786515	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs571953306	chr11:63786537-63786538	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs369344038	chr11:63786567-63786568	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375919239	chr11:63786577-63786578	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553698760	chr11:63786671-63786672	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573668808	chr11:63786681-63786682	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs79586371	chr11:63786689-63786690	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs191893698	chr11:63786695-63786696	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs138667836	chr11:63786756-63786757	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs544796708	chr11:63786800-63786801	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs564872291	chr11:63786805-63786806	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs571990137	chr11:63786813-63786814	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs4980518	chr11:63786821-63786822	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs183636266	chr11:63786822-63786823	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs548240783	chr11:63786826-63786827	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs538859701	chr11:63786831-63786832	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs549411373	chr11:63786841-63786842	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs562967665	chr11:63786842-63786843	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63778800-63786000	Weak transcription	Hela-S3	cervix
2	chr11:63779000-63789000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:63782200-63786400	Enhancers	Fetal Brain Male	brain
4	chr11:63782800-63786400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:63783000-63787200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:63783000-63787800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:63784400-63786000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:63784400-63787800	Enhancers	Brain Germinal Matrix	brain
9	chr11:63784800-63787400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:63784800-63787600	Enhancers	Pancreas	Pancrea
11	chr11:63785000-63786200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:63785000-63786400	Enhancers	Stomach Mucosa	stomach
13	chr11:63785000-63786800	Enhancers	Lung	lung
14	chr11:63785000-63787400	Enhancers	Left Ventricle	heart
15	chr11:63785000-63787400	Enhancers	Right Ventricle	heart
16	chr11:63785200-63786000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:63785200-63787400	Enhancers	Fetal Heart	heart
18	chr11:63785200-63787600	Enhancers	Fetal Muscle Leg	muscle
19	chr11:63785400-63786800	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:63785400-63786800	Enhancers	A549	lung
21	chr11:63785400-63787000	Enhancers	Esophagus	oesophagus
22	chr11:63785400-63787000	Enhancers	Gastric	stomach
23	chr11:63785800-63786400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:63786000-63786200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr11:63786000-63786600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:63786000-63786600	Enhancers	Colonic Mucosa	Colon
27	chr11:63786000-63786600	Bivalent Enhancer	Placenta	Placenta
28	chr11:63786000-63786600	Enhancers	Hela-S3	cervix
29	chr11:63786000-63787600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:63786200-63786400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:63786200-63786400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:63786200-63786400	Enhancers	Fetal Lung	lung
33	chr11:63786200-63786600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:63786200-63786600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:63786200-63786600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:63786200-63786800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:63786200-63787200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr11:63786200-63787600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr11:63786200-63788600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:63786400-63786600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:63786400-63786600	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr11:63786400-63786800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr11:63786400-63786800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:63786400-63786800	Weak transcription	Fetal Brain Male	brain
45	chr11:63786400-63787000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr11:63786400-63787000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:63786400-63787600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:63786400-63792000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:63786400-63794200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:63786600-63787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links