Variant report

Variant	esv3325212
Chromosome Location	chr13:94868232-94869044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:94866501..94869045-chr13:94869789..94872639,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150555822	chr13:94868234-94868235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200090068	chr13:94868239-94868240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111258644	chr13:94868243-94868244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35197559	chr13:94868244-94868245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71126442	chr13:94868245-94868246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371599078	chr13:94868247-94868248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181696605	chr13:94868254-94868255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113929809	chr13:94868262-94868263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567849403	chr13:94868315-94868316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536892719	chr13:94868370-94868371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149282333	chr13:94868380-94868381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187251384	chr13:94868383-94868384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538712864	chr13:94868386-94868387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558550511	chr13:94868416-94868417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575262034	chr13:94868453-94868454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537834724	chr13:94868456-94868457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145241343	chr13:94868492-94868493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs137858779	chr13:94868538-94868539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190467692	chr13:94868547-94868548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9516369	chr13:94868584-94868585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs180876206	chr13:94868613-94868614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1886930	chr13:94868681-94868682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564954237	chr13:94868684-94868685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114686868	chr13:94868700-94868701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142364484	chr13:94868842-94868843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115257249	chr13:94868893-94868894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146020705	chr13:94868901-94868902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1409176	chr13:94868904-94868905	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566695513	chr13:94868906-94868907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148278046	chr13:94868965-94868966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540877944	chr13:94869009-94869010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569242534	chr13:94869036-94869037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94863400-94873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:94864000-94879800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:94867000-94868600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:94867000-94870000	Enhancers	Fetal Lung	lung
5	chr13:94867000-94871000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:94867400-94868400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:94867400-94868600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:94867400-94870800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:94867600-94868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:94867600-94868800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:94867600-94868800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:94867800-94888000	Weak transcription	Fetal Intestine Small	intestine
13	chr13:94868400-94868600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:94868400-94871200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:94868400-94871600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:94868600-94869200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:94868600-94869800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:94868600-94869800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:94868800-94869800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:94868800-94869800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:94868800-94870800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr13:94868800-94871200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:94868800-94871800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:94868800-94872400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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