Variant report

Variant	esv3415767
Chromosome Location	chr2:168368306-168370204
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	chr2:168342324..168343828-chr2:168369519..168372114,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535891354	chr2:168368306-168368307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377272322	chr2:168368333-168368334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527288469	chr2:168368363-168368364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188745334	chr2:168368431-168368432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575767675	chr2:168368439-168368440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545066996	chr2:168368486-168368487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564947610	chr2:168368493-168368494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572165896	chr2:168368535-168368536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181689459	chr2:168368540-168368541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561280351	chr2:168368611-168368612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78929844	chr2:168368615-168368616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549430844	chr2:168368636-168368637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562845722	chr2:168368645-168368646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531866247	chr2:168368655-168368656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61195978	chr2:168368682-168368683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551819720	chr2:168368761-168368762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571760791	chr2:168368766-168368767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73024058	chr2:168368773-168368774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547672244	chr2:168368774-168368775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75644299	chr2:168368798-168368799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373281023	chr2:168368817-168368818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536533756	chr2:168368821-168368822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555768911	chr2:168368850-168368851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575597086	chr2:168368854-168368855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538363835	chr2:168368994-168368995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191558493	chr2:168369021-168369022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565429651	chr2:168369033-168369034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67927245	chr2:168369047-168369048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201554463	chr2:168369056-168369057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs68096314	chr2:168369057-168369058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201685598	chr2:168369066-168369067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200275833	chr2:168369068-168369069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58191137	chr2:168369070-168369071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145418656	chr2:168369076-168369077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374423893	chr2:168369077-168369078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72076744	chr2:168369078-168369079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs66968215	chr2:168369079-168369080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199518665	chr2:168369089-168369090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572042511	chr2:168369091-168369092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375036584	chr2:168369101-168369102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61380991	chr2:168369102-168369103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56166323	chr2:168369103-168369104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368513086	chr2:168369105-168369106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185966823	chr2:168369106-168369107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74171207	chr2:168369115-168369116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60242658	chr2:168369116-168369117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190838223	chr2:168369117-168369118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563065865	chr2:168369118-168369119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200504901	chr2:168369129-168369130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541258735	chr2:168369130-168369131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168366600-168384800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:168366800-168374200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:168367000-168385200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:168367200-168371200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:168367200-168371200	Weak transcription	Muscle Satellite Cultured Cells	--

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