Variant report

Variant	esv3357519
Chromosome Location	chr2:171873040-171873595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171869112..171873256-chr2:171875582..171877821,4	K562	blood:
2	chr2:171869068..171870901-chr2:171872063..171874094,2	K562	blood:
3	chr2:171865165..171868164-chr2:171873511..171876613,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551276049	chr2:171873045-171873046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115877960	chr2:171873070-171873071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534643415	chr2:171873089-171873090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188801975	chr2:171873099-171873100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528275816	chr2:171873165-171873166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2723248	chr2:171873251-171873252	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533103291	chr2:171873280-171873281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571208350	chr2:171873298-171873299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532378416	chr2:171873301-171873302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192061015	chr2:171873312-171873313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569354888	chr2:171873353-171873354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536373536	chr2:171873389-171873390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555031135	chr2:171873401-171873402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113015315	chr2:171873432-171873433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369733965	chr2:171873436-171873437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111657391	chr2:171873437-171873438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184607920	chr2:171873454-171873455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189320930	chr2:171873539-171873540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
9	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
13	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
14	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
16	chr2:171850400-171892000	Weak transcription	Brain Anterior Caudate	brain
17	chr2:171851800-171881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
19	chr2:171854000-171877400	Weak transcription	NHLF	lung
20	chr2:171858000-171891800	Weak transcription	Fetal Brain Female	brain
21	chr2:171858000-171892000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:171859400-171892000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:171859600-171876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:171859600-171897000	Weak transcription	Esophagus	oesophagus
25	chr2:171860000-171876400	Weak transcription	Fetal Stomach	stomach
26	chr2:171861600-171877400	Weak transcription	A549	lung
27	chr2:171862200-171874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:171862200-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:171862200-171890600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:171862800-171878600	Weak transcription	HSMMtube	muscle
32	chr2:171862800-171879400	Weak transcription	Thymus	Thymus
33	chr2:171862800-171885400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:171862800-171885800	Weak transcription	Ovary	ovary
35	chr2:171862800-171899000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:171863200-171877400	Weak transcription	NHDF-Ad	bronchial
38	chr2:171863200-171877800	Weak transcription	HUVEC	blood vessel
39	chr2:171863200-171886200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:171863200-171896200	Weak transcription	Hela-S3	cervix
41	chr2:171864200-171878600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:171864600-171876200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:171865800-171905000	Weak transcription	Fetal Heart	heart
44	chr2:171867800-171878800	Weak transcription	Fetal Lung	lung
45	chr2:171867800-171898600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:171867800-171898800	Weak transcription	Colonic Mucosa	Colon
47	chr2:171867800-171916200	Weak transcription	Gastric	stomach
48	chr2:171868000-171890800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:171868200-171875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:171868200-171879000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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