Variant report

Variant	nsv1005072
Chromosome Location	chr2:34659924-34754959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Variant related genes	Relation type
ENSG00000108443	chromatin interactions
ENSG00000108423	chromatin interactions

Extended variants
information (count: 1939 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1939 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148566108	chr2:34659934-34659935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564573648	chr2:34659941-34659942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571786588	chr2:34660012-34660013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs33997953	chr2:34660030-34660031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540766812	chr2:34660045-34660046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113326585	chr2:34660050-34660051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529440921	chr2:34660061-34660062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142546856	chr2:34660071-34660072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1401851	chr2:34660079-34660080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369759368	chr2:34660165-34660166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532076214	chr2:34660173-34660174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551775534	chr2:34660178-34660179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80218984	chr2:34660180-34660181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191630377	chr2:34660190-34660191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13395414	chr2:34660195-34660196	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191263603	chr2:34665807-34665808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77796964	chr2:34665842-34665843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183605334	chr2:34665846-34665847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564826510	chr2:34665876-34665877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187515138	chr2:34665905-34665906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11893960	chr2:34665942-34665943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537135184	chr2:34665958-34665959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369128985	chr2:34665979-34665980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551102698	chr2:34666062-34666063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192614402	chr2:34666065-34666066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200634280	chr2:34666085-34666086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372214902	chr2:34666158-34666159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142409397	chr2:34666176-34666177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112853835	chr2:34666210-34666211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201567414	chr2:34666223-34666224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35469520	chr2:34666237-34666238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77120161	chr2:34666251-34666252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79786548	chr2:34666264-34666265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527838728	chr2:34666318-34666319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111705075	chr2:34666338-34666339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575592730	chr2:34666342-34666343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565376161	chr2:34666345-34666346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78264374	chr2:34666348-34666349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549564836	chr2:34666355-34666356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34560096	chr2:34666389-34666390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146600948	chr2:34666400-34666401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572063141	chr2:34666426-34666427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17260900	chr2:34666433-34666434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560568839	chr2:34666443-34666444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529582280	chr2:34666476-34666477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139000737	chr2:34666575-34666576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563175213	chr2:34666588-34666589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141557764	chr2:34666606-34666607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183322858	chr2:34666629-34666630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147102724	chr2:34666639-34666640	Weak transcription	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34659600-34660200	Enhancers	Gastric	stomach
2	chr2:34665800-34666400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:34666400-34667800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34667400-34671200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:34667800-34668200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:34667800-34668200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:34668200-34670400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:34668800-34669000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:34668800-34669000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:34669000-34670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:34670400-34673800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:34670600-34673800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:34670800-34671400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:34670800-34671800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:34670800-34672000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:34671200-34673000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr2:34671200-34673200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:34671400-34672400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:34671400-34673600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:34671400-34673600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:34671800-34672200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:34672000-34673600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:34672200-34672400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:34672400-34672800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:34672400-34673200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:34672400-34673200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:34672400-34673200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:34672600-34673200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:34673200-34673800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:34673600-34673800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:34677000-34683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:34681600-34684200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr2:34682800-34685400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:34683600-34684400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:34683800-34684800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr2:34683800-34685600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:34684200-34684400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr2:34689000-34689800	Enhancers	Fetal Lung	lung
39	chr2:34691400-34691600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:34691800-34692400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:34699800-34700600	Enhancers	Fetal Kidney	kidney
42	chr2:34700600-34711800	Weak transcription	Fetal Kidney	kidney
43	chr2:34702600-34703400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:34703400-34706000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:34706000-34706200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:34706200-34708000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:34708000-34708600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:34711000-34712800	Enhancers	Fetal Intestine Large	intestine
49	chr2:34711800-34712200	Enhancers	Fetal Kidney	kidney
50	chr2:34712000-34713000	Enhancers	Fetal Lung	lung

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