Variant report

Variant	nsv1008691
Chromosome Location	chr4:28051516-28193042
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28142885..28145704-chr4:28154407..28156731,2	K562	blood:
2	chr4:28172886..28174929-chr4:28176207..28178293,2	MCF-7	breast:
3	chr4:28145656..28148352-chr4:28155077..28157282,2	MCF-7	breast:
4	chr4:28185120..28186993-chr4:28190743..28192783,2	MCF-7	breast:
5	chr4:28172886..28174929-chr4:28176207..28178293,2	MCF-7	breast:
6	chr4:28145656..28148352-chr4:28155077..28157282,2	MCF-7	breast:
7	chr4:28150102..28150780-chr6:144163979..144164654,2	MCF-7	breast:
8	chr4:28052922..28055818-chr4:28058833..28061575,2	MCF-7	breast:
9	chr4:28185120..28186993-chr4:28190743..28192783,2	MCF-7	breast:
10	chr4:28099687..28101856-chr4:28105919..28107595,3	MCF-7	breast:
11	chr4:28168107..28169683-chr4:28286032..28288156,2	MCF-7	breast:
12	chr4:28052922..28055818-chr4:28058833..28061575,2	MCF-7	breast:
13	chr4:28169150..28171197-chr4:28172039..28175865,3	MCF-7	breast:
14	chr4:28066283..28068093-chr4:28071007..28073660,2	K562	blood:
15	chr4:28169471..28172277-chr4:28176161..28178635,3	MCF-7	breast:
16	chr3:37302178..37303068-chr4:28151485..28152160,2	MCF-7	breast:
17	chr4:28169471..28172277-chr4:28176161..28178635,3	MCF-7	breast:
18	chr4:28168268..28171137-chr4:28175534..28179626,3	MCF-7	breast:
19	chr4:28169150..28171197-chr4:28172039..28175865,3	MCF-7	breast:
20	chr4:28168268..28171137-chr4:28175534..28179626,3	MCF-7	breast:
21	chr4:28066283..28068093-chr4:28071007..28073660,2	K562	blood:
22	chr4:28099687..28101856-chr4:28105919..28107595,3	MCF-7	breast:
23	chr4:28035719..28037819-chr4:28054257..28056821,2	K562	blood:
24	chr4:28142885..28145704-chr4:28154407..28156731,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135521	chromatin interactions

Extended variants
information (count: 1083 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149274685	chr4:28069025-28069026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536814702	chr4:28069045-28069046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553418548	chr4:28069064-28069065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573467251	chr4:28069091-28069092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538296356	chr4:28069092-28069093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186008466	chr4:28076925-28076926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149977084	chr4:28076956-28076957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192111642	chr4:28076990-28076991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547298422	chr4:28077001-28077002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6850690	chr4:28077002-28077003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538287721	chr4:28077006-28077007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558126120	chr4:28077094-28077095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568464952	chr4:28077098-28077099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566902743	chr4:28077146-28077147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75312618	chr4:28077159-28077160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554330946	chr4:28077254-28077255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184008871	chr4:28077290-28077291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149216639	chr4:28077322-28077323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371246654	chr4:28077338-28077339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554078327	chr4:28077361-28077362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577209647	chr4:28077397-28077398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372211499	chr4:28077521-28077522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546076427	chr4:28077524-28077525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565289648	chr4:28077592-28077593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367713616	chr4:28084061-28084062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549982703	chr4:28084142-28084143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545114731	chr4:28084155-28084156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147567640	chr4:28084156-28084157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74359972	chr4:28084197-28084198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553953615	chr4:28084201-28084202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141985538	chr4:28084214-28084215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145748930	chr4:28084272-28084273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370160746	chr4:28084288-28084289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111381694	chr4:28084289-28084290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7441199	chr4:28084334-28084335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs193050321	chr4:28084386-28084387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372541897	chr4:28084392-28084393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149591731	chr4:28084406-28084407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541806818	chr4:28084418-28084419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561622094	chr4:28084428-28084429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184832194	chr4:28084437-28084438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542651949	chr4:28084459-28084460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111641246	chr4:28084461-28084462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551747543	chr4:28084466-28084467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547482009	chr4:28084489-28084490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564298620	chr4:28084492-28084493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376244588	chr4:28084500-28084501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533126142	chr4:28084506-28084507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189977571	chr4:28084517-28084518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77082111	chr4:28084547-28084548	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28069000-28069200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:28076800-28077600	Enhancers	Colon Smooth Muscle	Colon
3	chr4:28084000-28084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:28084000-28085000	Enhancers	HMEC	breast
5	chr4:28084400-28085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:28089400-28089800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:28092200-28092600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:28092800-28093200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:28094000-28095000	Enhancers	Hela-S3	cervix
10	chr4:28094400-28094800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:28106200-28108800	Enhancers	HepG2	liver
12	chr4:28114600-28114800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:28114800-28118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:28117800-28118200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:28118600-28119400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:28118600-28119400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr4:28118600-28119400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:28118600-28119600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:28118600-28119600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr4:28118800-28119400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:28118800-28119400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:28118800-28119400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr4:28119400-28119600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:28119400-28119600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:28120600-28121200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:28141200-28141600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:28161000-28161200	Enhancers	A549	lung
28	chr4:28168000-28170200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:28168600-28170200	Enhancers	HMEC	breast
30	chr4:28168600-28170400	Enhancers	Hela-S3	cervix
31	chr4:28168800-28169800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:28168800-28169800	Enhancers	A549	lung
33	chr4:28168800-28169800	Enhancers	NHEK	skin
34	chr4:28168800-28170200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:28169000-28169400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:28169200-28169800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:28169800-28176800	Weak transcription	A549	lung
38	chr4:28176800-28177000	Enhancers	A549	lung
39	chr4:28177000-28177800	Weak transcription	A549	lung
40	chr4:28177800-28178600	Enhancers	A549	lung
41	chr4:28178400-28179800	Enhancers	Hela-S3	cervix
42	chr4:28178600-28179600	Flanking Active TSS	A549	lung
43	chr4:28178800-28179400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:28178800-28179800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:28180800-28181400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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