Variant report

Variant	nsv873844
Chromosome Location	chr2:35515088-35626585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
2	chr2:35534253..35536153-chr2:35536523..35538995,2	MCF-7	breast:
3	chr2:35515834..35519983-chr2:35520328..35526264,11	MCF-7	breast:
4	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
5	chr2:35438569..35439074-chr2:35522272..35523184,2	MCF-7	breast:
6	chr2:35393099..35394069-chr2:35567966..35568823,5	MCF-7	breast:
7	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
8	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
9	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
10	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
11	chr2:35524345..35526725-chr2:35531053..35532688,2	MCF-7	breast:
12	chr2:35392713..35393658-chr2:35567942..35568821,2	MCF-7	breast:
13	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
14	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
15	chr2:35419204..35420824-chr2:35561387..35563219,2	MCF-7	breast:
16	chr2:35534253..35536153-chr2:35536523..35538995,2	MCF-7	breast:
17	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
18	chr2:35555522..35558497-chr2:35583892..35586551,2	MCF-7	breast:
19	chr2:35523124..35525670-chr2:35529266..35531418,2	MCF-7	breast:
20	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
21	chr2:35524345..35526725-chr2:35531053..35532688,2	MCF-7	breast:
22	chr2:35555522..35558497-chr2:35583892..35586551,2	MCF-7	breast:
23	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
24	chr2:35515834..35519983-chr2:35520328..35526264,11	MCF-7	breast:
25	chr2:35523124..35525670-chr2:35529266..35531418,2	MCF-7	breast:
26	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:

No data

Extended variants
information (count: 1345 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555882268	chr2:35517242-35517243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575896445	chr2:35517245-35517246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534893242	chr2:35517276-35517277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374202690	chr2:35517298-35517299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564362817	chr2:35517318-35517319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34076201	chr2:35517359-35517360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187426163	chr2:35517364-35517365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540412902	chr2:35517377-35517378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560254353	chr2:35517393-35517394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76249461	chr2:35517420-35517421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149891869	chr2:35517462-35517463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569119864	chr2:35517463-35517464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571348337	chr2:35517489-35517490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551671187	chr2:35517493-35517494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538751107	chr2:35517531-35517532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7419474	chr2:35517553-35517554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144951549	chr2:35517583-35517584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553997450	chr2:35517707-35517708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567416219	chr2:35517757-35517758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528159469	chr2:35517758-35517759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2371748	chr2:35517792-35517793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191562270	chr2:35517807-35517808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541603625	chr2:35517810-35517811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557091455	chr2:35517891-35517892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183991531	chr2:35517906-35517907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544969135	chr2:35517909-35517910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558064838	chr2:35517956-35517957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574501210	chr2:35517985-35517986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60672522	chr2:35517999-35518000	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540474915	chr2:35518030-35518031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560268687	chr2:35518043-35518044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375544468	chr2:35518063-35518064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187988006	chr2:35518078-35518079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74367424	chr2:35518101-35518102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148602429	chr2:35518123-35518124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531634238	chr2:35518132-35518133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553858500	chr2:35518149-35518150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551781765	chr2:35518155-35518156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571606050	chr2:35518177-35518178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527581211	chr2:35518207-35518208	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs180853741	chr2:35518225-35518226	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs567307069	chr2:35518277-35518278	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184466413	chr2:35518299-35518300	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs6710170	chr2:35518346-35518347	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572094648	chr2:35518347-35518348	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs564636602	chr2:35518388-35518389	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569718390	chr2:35518397-35518398	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538288032	chr2:35518414-35518415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142072598	chr2:35518518-35518519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577922647	chr2:35518521-35518522	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35517200-35518200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35517400-35517800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:35517800-35518000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:35517800-35518200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:35517800-35518600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:35517800-35518600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:35517800-35518600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:35518000-35518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:35518000-35518400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:35518000-35518800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:35518200-35518400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:35518200-35518800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:35518200-35519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:35518200-35519400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:35518200-35519800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:35518400-35520000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:35519400-35520000	Enhancers	A549	lung
18	chr2:35520000-35525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35522800-35524000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:35523200-35524000	Enhancers	HUVEC	blood vessel
21	chr2:35523200-35524200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:35523400-35523800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:35523400-35524200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:35523600-35523800	Enhancers	Fetal Brain Male	brain
25	chr2:35523600-35524000	Enhancers	Fetal Lung	lung
26	chr2:35523800-35526600	Weak transcription	Fetal Brain Male	brain
27	chr2:35525000-35526600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:35526600-35526800	Enhancers	Fetal Brain Male	brain
29	chr2:35526600-35527400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:35526800-35527600	Weak transcription	Fetal Brain Male	brain
31	chr2:35527400-35527600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:35527600-35528600	Enhancers	Fetal Brain Male	brain
33	chr2:35527600-35530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:35530600-35530800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:35538400-35539200	Enhancers	Brain Germinal Matrix	brain
36	chr2:35550600-35553200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:35553200-35553400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:35553400-35553600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:35553600-35554800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:35554200-35555800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:35554800-35555000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:35555000-35555200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:35555200-35555600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:35555600-35556200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:35556200-35557200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:35562000-35562200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:35562800-35564400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:35563800-35564200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:35563800-35564800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:35564000-35564200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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