Variant report

Variant	esv3428657
Chromosome Location	chr13:61596551-61598749
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	chr12:122239018..122239524-chr13:61597692..61598542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149406992	chr13:61596570-61596571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532055037	chr13:61596598-61596599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56062844	chr13:61596656-61596657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71199052	chr13:61596668-61596669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71985234	chr13:61596669-61596670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369132642	chr13:61596775-61596776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143788616	chr13:61596788-61596789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148110604	chr13:61596949-61596950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76266084	chr13:61596983-61596984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547612535	chr13:61597009-61597010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532906334	chr13:61597010-61597011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143930185	chr13:61597105-61597106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371382990	chr13:61597123-61597124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7991741	chr13:61597211-61597212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140735321	chr13:61597230-61597231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570365184	chr13:61597239-61597240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74238761	chr13:61597273-61597274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398023034	chr13:61597274-61597275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537771176	chr13:61597285-61597286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549911851	chr13:61597313-61597314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568193826	chr13:61597322-61597323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191477143	chr13:61597344-61597345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182959784	chr13:61597354-61597355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372631431	chr13:61597356-61597357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376853916	chr13:61597388-61597389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572059560	chr13:61597389-61597390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539399079	chr13:61597404-61597405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558052409	chr13:61597433-61597434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557791601	chr13:61597435-61597436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567740167	chr13:61597445-61597446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7996472	chr13:61597544-61597545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71415677	chr13:61597551-61597552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9528280	chr13:61597552-61597553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10544743	chr13:61597555-61597556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67758213	chr13:61597564-61597565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371926843	chr13:61597578-61597579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7996351	chr13:61597598-61597599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553860974	chr13:61597600-61597601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187637113	chr13:61597603-61597604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114889439	chr13:61597625-61597626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192492226	chr13:61597633-61597634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531615228	chr13:61597639-61597640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549832098	chr13:61597690-61597691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568242236	chr13:61597758-61597759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530692338	chr13:61597774-61597775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183555818	chr13:61597791-61597792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377042703	chr13:61597823-61597824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547621464	chr13:61597877-61597878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576305143	chr13:61597898-61597899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4886294	chr13:61597899-61597900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61584800-61602400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:61596400-61599400	Weak transcription	Fetal Heart	heart
3	chr13:61597800-61598200	Enhancers	Brain Anterior Caudate	brain
4	chr13:61597800-61598200	Enhancers	Brain Substantia Nigra	brain
5	chr13:61597800-61598600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:61597800-61598800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:61597800-61599400	Enhancers	Brain Hippocampus Middle	brain
8	chr13:61598000-61598800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr13:61598200-61598600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:61598200-61602800	Weak transcription	Brain Anterior Caudate	brain
11	chr13:61598200-61603000	Weak transcription	Brain Substantia Nigra	brain
12	chr13:61598600-61599000	Enhancers	Brain Cingulate Gyrus	brain

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