Variant report

Variant	esv3351155
Chromosome Location	chr11:66320995-66321401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66320797..66323676-chr11:66324409..66326374,2	MCF-7	breast:
2	chr11:66311873..66314750-chr11:66320969..66327300,6	K562	blood:
3	chr11:66315799..66318401-chr11:66320037..66321608,2	K562	blood:

Variant related genes	Relation type
ENSG00000174165	chromatin interactions
ENSG00000248746	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374293113	chr11:66321043-66321044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554624756	chr11:66321069-66321070	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574768994	chr11:66321084-66321085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34177967	chr11:66321096-66321097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567936747	chr11:66321142-66321143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376550230	chr11:66321197-66321198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556469662	chr11:66321201-66321202	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576621000	chr11:66321220-66321221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2509559	chr11:66321234-66321235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2509558	chr11:66321265-66321266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545272360	chr11:66321281-66321282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12222434	chr11:66321282-66321283	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572226277	chr11:66321291-66321292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs35794957	chr11:66321303-66321304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2511217	chr11:66321304-66321305	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs80019849	chr11:66321322-66321323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs35121692	chr11:66321324-66321325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576993823	chr11:66321325-66321326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138694339	chr11:66321337-66321338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs180836022	chr11:66321339-66321340	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11448724	chr11:66321342-66321343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs376277697	chr11:66321343-66321344	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373374755	chr11:66321357-66321358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35598096	chr11:66321382-66321383	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111458945	chr11:66321387-66321388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66314200-66321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:66314400-66327000	Weak transcription	Right Atrium	heart
3	chr11:66314800-66326600	Weak transcription	Psoas Muscle	Psoas
4	chr11:66315400-66323600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:66316200-66323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:66316400-66325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:66316600-66321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:66316600-66322200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:66316800-66321800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:66316800-66325800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:66317000-66321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:66317000-66324800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:66319200-66321400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:66320000-66321800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:66320000-66322600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:66320200-66321400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:66321400-66321600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:66321400-66322600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:66321400-66323000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:66321400-66330400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:66321400-66331600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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