Variant report

Variant	nsv999506
Chromosome Location	chr2:34644109-34723191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57969237..57970939-chr2:34675539..34678526,2	MCF-7	breast:
2	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
3	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
4	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
5	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033

Variant related genes	Relation type
ENSG00000108423	chromatin interactions
ENSG00000108443	chromatin interactions

Extended variants
information (count: 2022 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2022 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562961831	chr2:34644412-34644413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540392218	chr2:34644451-34644452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532063061	chr2:34644452-34644453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561883879	chr2:34644471-34644472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551879890	chr2:34644502-34644503	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149949569	chr2:34644538-34644539	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571807521	chr2:34644544-34644545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534167688	chr2:34644616-34644617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547978525	chr2:34644618-34644619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567814339	chr2:34644632-34644633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs180882185	chr2:34644638-34644639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556561205	chr2:34644680-34644681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs147222540	chr2:34644711-34644712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376780680	chr2:34644728-34644729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140461385	chr2:34644788-34644789	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs72868032	chr2:34644808-34644809	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572514336	chr2:34644843-34644844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540821535	chr2:34644852-34644853	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs529162593	chr2:34644880-34644881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144412332	chr2:34644902-34644903	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183623554	chr2:34644914-34644915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188828318	chr2:34644999-34645000	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557029848	chr2:34646613-34646614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143424184	chr2:34646678-34646679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530897050	chr2:34646720-34646721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs190297881	chr2:34646724-34646725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370512286	chr2:34646725-34646726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77117019	chr2:34646726-34646727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575621958	chr2:34646729-34646730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533110037	chr2:34646748-34646749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546481389	chr2:34646749-34646750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183203164	chr2:34646766-34646767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs535400785	chr2:34646785-34646786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531765227	chr2:34646802-34646803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs80094062	chr2:34646822-34646823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187843001	chr2:34646847-34646848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557927321	chr2:34646852-34646853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577672966	chr2:34646877-34646878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs546328638	chr2:34646907-34646908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144198102	chr2:34646934-34646935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553309838	chr2:34646995-34646996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs147205995	chr2:34647042-34647043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs35496628	chr2:34647046-34647047	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561724846	chr2:34647082-34647083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs207461632	chr2:34647124-34647125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs539433542	chr2:34647134-34647135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142935549	chr2:34647143-34647144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs566111871	chr2:34647162-34647163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564558449	chr2:34647172-34647173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76767463	chr2:34647238-34647239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34644400-34645000	Active TSS	Aorta	Aorta
2	chr2:34646600-34650000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:34648200-34648400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr2:34648200-34648400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:34649400-34650200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr2:34650800-34651200	Active TSS	Hela-S3	cervix
7	chr2:34652400-34654400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:34659600-34660200	Enhancers	Gastric	stomach
9	chr2:34665800-34666400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:34666400-34667800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:34667400-34671200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:34667800-34668200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:34667800-34668200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:34668200-34670400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:34668800-34669000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:34668800-34669000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:34669000-34670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:34670400-34673800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:34670600-34673800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:34670800-34671400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:34670800-34671800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:34670800-34672000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:34671200-34673000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:34671200-34673200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:34671400-34672400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:34671400-34673600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:34671400-34673600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:34671800-34672200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:34672000-34673600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:34672200-34672400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:34672400-34672800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:34672400-34673200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:34672400-34673200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:34672400-34673200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:34672600-34673200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:34673200-34673800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:34673600-34673800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:34677000-34683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:34681600-34684200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr2:34682800-34685400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:34683600-34684400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:34683800-34684800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr2:34683800-34685600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:34684200-34684400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr2:34689000-34689800	Enhancers	Fetal Lung	lung
46	chr2:34691400-34691600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:34691800-34692400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:34699800-34700600	Enhancers	Fetal Kidney	kidney
49	chr2:34700600-34711800	Weak transcription	Fetal Kidney	kidney
50	chr2:34702600-34703400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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