Variant report

Variant	esv2762293
Chromosome Location	chr2:171732267-171734722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171729910..171732029-chr2:171733045..171735260,2	MCF-7	breast:
2	chr2:171721677..171726010-chr2:171731476..171734906,5	K562	blood:
3	chr2:171733620..171736604-chr2:171737963..171739920,3	K562	blood:
4	chr2:171723075..171726010-chr2:171732396..171733970,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7602737	chr2:171732267-171732268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558590981	chr2:171732275-171732276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191686851	chr2:171732321-171732322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200143859	chr2:171732336-171732337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10631908	chr2:171732337-171732338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398071434	chr2:171732338-171732339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377286204	chr2:171732339-171732340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543960576	chr2:171732375-171732376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148561769	chr2:171732389-171732390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7603048	chr2:171732414-171732415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541706004	chr2:171732451-171732452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7576508	chr2:171732497-171732498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145503868	chr2:171732516-171732517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183826437	chr2:171732568-171732569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564566363	chr2:171732605-171732606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531835164	chr2:171732638-171732639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550446628	chr2:171732704-171732705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375382284	chr2:171732714-171732715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553126115	chr2:171732727-171732728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367888478	chr2:171732783-171732784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560351944	chr2:171732784-171732785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529645782	chr2:171732797-171732798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80107730	chr2:171732806-171732807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188224477	chr2:171732817-171732818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192218957	chr2:171732829-171732830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11439736	chr2:171732921-171732922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77250543	chr2:171732922-171732923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67904611	chr2:171732941-171732942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78871012	chr2:171732943-171732944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4668337	chr2:171732989-171732990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185809703	chr2:171732991-171732992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555975158	chr2:171733126-171733127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190333555	chr2:171733141-171733142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535383928	chr2:171733160-171733161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12620730	chr2:171733219-171733220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4668338	chr2:171733225-171733226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
37	rs546221916	chr2:171733282-171733283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147718580	chr2:171733300-171733301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570117889	chr2:171733306-171733307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531723134	chr2:171733330-171733331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72890932	chr2:171733349-171733350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7580088	chr2:171733350-171733351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs529480584	chr2:171733389-171733390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7606814	chr2:171733478-171733479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142664115	chr2:171733495-171733496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533446811	chr2:171733512-171733513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182155630	chr2:171733538-171733539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10930444	chr2:171733546-171733547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs570091951	chr2:171733577-171733578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144910417	chr2:171733615-171733616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171730000-171734600	Weak transcription	NH-A	brain
2	chr2:171730200-171732600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:171730200-171734200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:171730200-171734400	Weak transcription	Pancreas	Pancrea
5	chr2:171730200-171734600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:171730200-171734600	Weak transcription	Hela-S3	cervix
7	chr2:171730200-171735000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:171730400-171734600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:171730400-171734600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:171730400-171734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:171730400-171734600	Weak transcription	Dnd41	blood
12	chr2:171730400-171734800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:171730600-171734600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:171731200-171740400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:171732600-171732800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:171734000-171735200	Enhancers	HMEC	breast
17	chr2:171734200-171735200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:171734200-171735400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:171734400-171734600	Enhancers	Pancreas	Pancrea
20	chr2:171734400-171735400	Enhancers	NHEK	skin
21	chr2:171734600-171734800	Enhancers	Primary B cells from cord blood	blood
22	chr2:171734600-171734800	Enhancers	Dnd41	blood
23	chr2:171734600-171735000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:171734600-171735000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:171734600-171735000	Enhancers	Stomach Mucosa	stomach
26	chr2:171734600-171735000	Enhancers	Hela-S3	cervix
27	chr2:171734600-171735200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:171734600-171735200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr2:171734600-171735200	Enhancers	NH-A	brain
30	chr2:171734600-171735400	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:171734600-171735400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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