Variant report

Variant	nsv878698
Chromosome Location	chr4:10536544-10632404
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10583805..10584321-chr4:11425347..11425919,2	K562	blood:
2	chr4:10629100..10630665-chr4:10632298..10634083,2	K562	blood:
3	chr4:10624055..10624663-chr4:10717565..10718180,2	MCF-7	breast:
4	chr4:10447047..10450143-chr4:10544780..10547664,3	K562	blood:
5	chr4:10166357..10167092-chr4:10539527..10540141,2	K562	blood:
6	chr4:10565843..10567619-chr4:10571881..10573661,2	K562	blood:
7	chr4:10115768..10118587-chr4:10607814..10610283,2	K562	blood:
8	chr4:10589594..10591701-chr4:10595325..10597729,2	K562	blood:
9	chr4:10558802..10560908-chr4:10562885..10565234,3	K562	blood:
10	chr4:10161679..10162563-chr4:10550963..10551528,2	K562	blood:
11	chr4:10583964..10584566-chr4:10891149..10891659,2	K562	blood:
12	chr4:10331376..10333243-chr4:10539358..10541936,2	MCF-7	breast:
13	chr4:10565843..10567619-chr4:10571881..10573661,2	K562	blood:
14	chr4:10133192..10134746-chr4:10556529..10559334,2	K562	blood:
15	chr4:10117390..10120335-chr4:10557571..10560347,2	K562	blood:
16	chr4:10157043..10158718-chr4:10551029..10552565,2	K562	blood:
17	chr4:10589594..10591701-chr4:10595325..10597729,2	K562	blood:
18	chr4:10606286..10608482-chr4:10610172..10612555,2	K562	blood:
19	chr4:10584329..10586994-chr4:10592921..10595277,2	K562	blood:
20	chr4:10583499..10584322-chr4:10891222..10891822,2	MCF-7	breast:
21	chr4:10119738..10123155-chr4:10543992..10547634,3	K562	blood:
22	chr4:10119977..10122163-chr4:10535349..10537578,2	K562	blood:
23	chr4:10583868..10584631-chr4:11955436..11956378,3	MCF-7	breast:
24	chr4:10166490..10167101-chr4:10539409..10540077,2	MCF-7	breast:
25	chr4:10629100..10630665-chr4:10632298..10634083,2	K562	blood:
26	chr4:10627751..10630600-chr4:10632298..10634357,3	K562	blood:
27	chr4:10166411..10167001-chr4:10551169..10551934,2	MCF-7	breast:
28	chr4:10161152..10162147-chr4:10556178..10556908,2	K562	blood:
29	chr4:10120712..10122224-chr4:10551588..10553224,2	K562	blood:
30	chr4:10119630..10121541-chr4:10538034..10541032,2	K562	blood:
31	chr4:10159444..10160410-chr4:10539265..10539788,2	K562	blood:
32	chr4:10159145..10160030-chr4:10550948..10551977,4	MCF-7	breast:
33	chr4:10584329..10586994-chr4:10592921..10595277,2	K562	blood:
34	chr4:10583399..10584446-chr4:11625045..11625924,3	MCF-7	breast:
35	chr4:10166189..10167113-chr4:10551000..10552086,3	MCF-7	breast:
36	chr4:10534187..10535776-chr4:10538246..10540113,2	K562	blood:
37	chr4:10558802..10560908-chr4:10562885..10565234,3	K562	blood:
38	chr4:10583546..10584400-chr4:11425558..11426293,2	MCF-7	breast:
39	chr4:10627751..10630600-chr4:10632298..10634357,3	K562	blood:
40	chr4:10606286..10608482-chr4:10610172..10612555,2	K562	blood:
41	chr4:10583505..10584177-chr4:12634424..12635327,2	MCF-7	breast:
42	chr4:10161449..10162536-chr4:10550736..10551916,8	MCF-7	breast:
43	chr4:10121065..10123200-chr4:10609575..10612227,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223086	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 4212 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:4212 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10488948	chr4:10536544-10536545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563131432	chr4:10536567-10536568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530688637	chr4:10536575-10536576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74602122	chr4:10536595-10536596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545685983	chr4:10536632-10536633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564381427	chr4:10536635-10536636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528393423	chr4:10536692-10536693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528668038	chr4:10536698-10536699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568092740	chr4:10536722-10536723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546842901	chr4:10536743-10536744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568657550	chr4:10536747-10536748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116617092	chr4:10536773-10536774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374888300	chr4:10536819-10536820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369539070	chr4:10536823-10536824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373008904	chr4:10536835-10536836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370404309	chr4:10536836-10536837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201606226	chr4:10536838-10536839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568975558	chr4:10536850-10536851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377442520	chr4:10536852-10536853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537622578	chr4:10536855-10536856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71651336	chr4:10536857-10536858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558901017	chr4:10536859-10536860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10461099	chr4:10536863-10536864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs57053319	chr4:10536890-10536891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375520093	chr4:10536891-10536892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376394967	chr4:10536894-10536895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535033728	chr4:10536910-10536911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552943370	chr4:10536955-10536956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574531558	chr4:10536966-10536967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529562123	chr4:10536973-10536974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35002203	chr4:10536975-10536976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535463723	chr4:10536994-10536995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77241333	chr4:10536997-10536998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10461100	chr4:10537016-10537017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545949458	chr4:10537023-10537024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183996870	chr4:10537097-10537098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569268701	chr4:10537121-10537122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368340321	chr4:10537123-10537124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189688406	chr4:10537128-10537129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138762115	chr4:10537139-10537140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181066919	chr4:10537146-10537147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10461083	chr4:10537147-10537148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566040124	chr4:10537204-10537205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531791273	chr4:10537214-10537215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532918928	chr4:10537360-10537361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563627354	chr4:10537380-10537381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143514446	chr4:10537420-10537421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552715913	chr4:10537461-10537462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571001190	chr4:10537501-10537502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539891146	chr4:10537570-10537571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10532600-10539400	Weak transcription	Aorta	Aorta
2	chr4:10534800-10538200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:10535200-10537800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:10535400-10537600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:10536000-10537600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:10536200-10537800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:10536200-10538400	Enhancers	GM12878-XiMat	blood
8	chr4:10537400-10538200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:10537600-10537800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:10537600-10538000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:10537600-10538000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:10537600-10538000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:10537600-10538200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:10537800-10538000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr4:10537800-10538000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:10537800-10538200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:10537800-10538600	Enhancers	Brain Germinal Matrix	brain
18	chr4:10538400-10578200	Weak transcription	GM12878-XiMat	blood
19	chr4:10541800-10542400	Enhancers	Fetal Intestine Small	intestine
20	chr4:10544600-10544800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:10544800-10550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:10550400-10551200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:10551200-10566000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:10552800-10553000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:10553000-10553800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:10553800-10556400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:10554000-10554400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:10554000-10554400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:10554000-10554400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:10554000-10555800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:10554200-10554600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:10554200-10554800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
33	chr4:10554200-10554800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:10554200-10555400	Enhancers	Primary hematopoietic stem cells	blood
35	chr4:10554400-10554800	Enhancers	HUVEC	blood vessel
36	chr4:10554400-10555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:10554400-10572200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:10554600-10555000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:10554800-10556200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:10555000-10556400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:10555000-10556400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:10555200-10556800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr4:10555400-10556800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:10555400-10556800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:10556200-10556600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:10556200-10556800	Enhancers	Liver	Liver
47	chr4:10556200-10556800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr4:10556400-10556600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:10556400-10556600	Enhancers	Fetal Lung	lung
50	chr4:10556400-10556800	Enhancers	Primary B cells from peripheral blood	blood

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