Variant report

Variant	esv3386957
Chromosome Location	chr11:71694375-71694745
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	POLR2A	chr11:71694265-71694378	GM12878	blood:	n/a	n/a
2	ZKSCAN1	chr11:71694579-71694848	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71692780..71694437-chr11:71700884..71703038,2	MCF-7	breast:
2	chr11:71637727..71640735-chr11:71691994..71694781,3	MCF-7	breast:
3	chr11:71638884..71640864-chr11:71694581..71697460,2	K562	blood:

Variant related genes	Relation type
RNF121	TF binding region
ENSG00000137522	chromatin interactions
ENSG00000254469	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572703243	chr11:71694431-71694432	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184725578	chr11:71694454-71694455	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373205293	chr11:71694456-71694457	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371649136	chr11:71694462-71694463	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558442848	chr11:71694492-71694493	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576755477	chr11:71694516-71694517	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544480589	chr11:71694528-71694529	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562386065	chr11:71694569-71694570	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555606564	chr11:71694582-71694583	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs41328045	chr11:71694644-71694645	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
11	rs4945392	chr11:71694645-71694646	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541565077	chr11:71694688-71694689	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs560154321	chr11:71694720-71694721	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Lung cancer	18438408	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
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	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
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660400-71701200	Weak transcription	Gastric	stomach
2	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
3	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
4	chr11:71663000-71698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:71668800-71699000	Weak transcription	Right Ventricle	heart
6	chr11:71669800-71694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:71670600-71701000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:71672200-71698800	Weak transcription	NHEK	skin
9	chr11:71672200-71701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
11	chr11:71672400-71701000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:71672600-71694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:71672600-71694400	Weak transcription	Aorta	Aorta
15	chr11:71672600-71694600	Weak transcription	Esophagus	oesophagus
16	chr11:71672600-71698400	Weak transcription	Spleen	Spleen
17	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:71672800-71694600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:71673000-71697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:71673000-71698800	Weak transcription	Ovary	ovary
21	chr11:71673000-71701200	Weak transcription	Pancreas	Pancrea
22	chr11:71673200-71694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:71673600-71694400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:71673600-71698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:71673800-71698000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:71673800-71698400	Weak transcription	NHLF	lung
28	chr11:71673800-71701200	Weak transcription	Colonic Mucosa	Colon
29	chr11:71673800-71701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
31	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
32	chr11:71674200-71697400	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:71675000-71701200	Weak transcription	Fetal Brain Female	brain
34	chr11:71677000-71709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:71678000-71710600	Weak transcription	HMEC	breast
37	chr11:71681000-71698000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:71681200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:71681600-71694800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:71681600-71698600	Weak transcription	Placenta	Placenta
41	chr11:71681600-71698800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:71681800-71694600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:71682000-71696200	Weak transcription	Fetal Kidney	kidney
44	chr11:71684000-71695000	Weak transcription	Psoas Muscle	Psoas
45	chr11:71684000-71697800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:71684200-71709000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:71685800-71698600	Strong transcription	K562	blood
48	chr11:71686800-71694400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:71687000-71694600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:71687000-71698400	Weak transcription	NHDF-Ad	bronchial

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