Variant report

Variant	esv3429730
Chromosome Location	chr2:168161506-168165004
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	chr2:168158037..168159768-chr2:168162619..168165474,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117865681	chr2:168161515-168161516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115226282	chr2:168161528-168161529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117336865	chr2:168161565-168161566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541158948	chr2:168161583-168161584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554790242	chr2:168161608-168161609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75223163	chr2:168161628-168161629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151088685	chr2:168161688-168161689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563961130	chr2:168161693-168161694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577515639	chr2:168161728-168161729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147589213	chr2:168161751-168161752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545805893	chr2:168161762-168161763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199861582	chr2:168161765-168161766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370468281	chr2:168161769-168161770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182107861	chr2:168161786-168161787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374515193	chr2:168161836-168161837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187782666	chr2:168161937-168161938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373660621	chr2:168161956-168161957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548272507	chr2:168161969-168161970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113925383	chr2:168162036-168162037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192262499	chr2:168162039-168162040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184040385	chr2:168162097-168162098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550547154	chr2:168162142-168162143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570713962	chr2:168162147-168162148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78861268	chr2:168162151-168162152	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs552133094	chr2:168162172-168162173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565711361	chr2:168162220-168162221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs118112873	chr2:168162233-168162234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78356572	chr2:168162273-168162274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574841128	chr2:168162284-168162285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563663099	chr2:168162297-168162298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532384187	chr2:168162361-168162362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149695166	chr2:168162371-168162372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80227580	chr2:168162391-168162392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577597117	chr2:168162480-168162481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188578288	chr2:168162490-168162491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560105287	chr2:168162526-168162527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576658100	chr2:168162540-168162541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572834167	chr2:168162544-168162545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559587338	chr2:168162570-168162571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113483412	chr2:168162572-168162573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140244771	chr2:168162578-168162579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530559382	chr2:168162606-168162607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550733139	chr2:168162618-168162619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1357599	chr2:168162630-168162631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547147329	chr2:168162667-168162668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532983935	chr2:168162734-168162735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546457892	chr2:168162779-168162780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79042802	chr2:168162851-168162852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534655209	chr2:168162889-168162890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567226274	chr2:168162945-168162946	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
Schizophrenia	21346763	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168151400-168163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168152000-168174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168152600-168167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:168154400-168173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:168154800-168165800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:168157200-168163000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:168160200-168164800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:168160400-168165000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:168163000-168163400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:168163400-168165600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:168164800-168167400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:168165000-168167600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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