Variant report

Variant	esv3341977
Chromosome Location	chr13:87442000-87470371
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	chr13:87465454..87468131-chr13:87475693..87478573,2	MCF-7	breast:

Extended variants
information (count: 625 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554175298	chr13:87442029-87442030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4309266	chr13:87442030-87442031	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546172999	chr13:87442062-87442063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558159388	chr13:87442116-87442117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534672225	chr13:87442130-87442131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562103162	chr13:87442141-87442142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183610766	chr13:87442143-87442144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141835623	chr13:87442177-87442178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546496411	chr13:87442214-87442215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529840723	chr13:87442240-87442241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541667839	chr13:87442256-87442257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189646330	chr13:87442280-87442281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193085071	chr13:87442370-87442371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538544511	chr13:87442409-87442410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527615875	chr13:87442417-87442418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552167075	chr13:87442441-87442442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570450234	chr13:87442503-87442504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373387226	chr13:87442517-87442518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556891038	chr13:87442518-87442519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549912478	chr13:87442519-87442520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568117623	chr13:87442532-87442533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546895059	chr13:87442533-87442534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112048803	chr13:87442554-87442555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150201936	chr13:87442584-87442585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138853594	chr13:87442656-87442657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566129065	chr13:87442669-87442670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185827554	chr13:87442692-87442693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558132317	chr13:87442710-87442711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148640664	chr13:87442736-87442737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369446344	chr13:87442751-87442752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189909466	chr13:87442817-87442818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555337930	chr13:87442835-87442836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573836654	chr13:87442854-87442855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541148684	chr13:87442865-87442866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560322736	chr13:87442888-87442889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4564442	chr13:87442910-87442911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546095895	chr13:87442920-87442921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181450898	chr13:87442943-87442944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554669940	chr13:87442967-87442968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35300345	chr13:87442980-87442981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568810490	chr13:87442987-87442988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4628822	chr13:87442999-87443000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371322483	chr13:87443161-87443162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540188711	chr13:87443177-87443178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185939618	chr13:87443190-87443191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573807995	chr13:87443216-87443217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561660844	chr13:87443247-87443248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529035337	chr13:87443307-87443308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375888804	chr13:87443311-87443312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139703040	chr13:87443321-87443322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87439800-87442600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:87441200-87444400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:87441800-87442000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:87443800-87444400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr13:87444000-87444400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr13:87444400-87444600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:87444400-87444600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:87450200-87450600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:87450200-87450600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:87452600-87453200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:87455200-87455600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:87456600-87478400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:87462200-87463400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:87462200-87463400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:87462400-87462800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:87462400-87463200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:87462800-87463000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:87463000-87463200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:87465400-87465800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:87465600-87466000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr13:87465600-87466000	Enhancers	HUES6 Cell Line	embryonic stem cell

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