Variant report

Variant	nsv878804
Chromosome Location	chr4:30162762-30412195
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:30190158..30192190-chr4:30196821..30199577,2	MCF-7	breast:
2	chr4:29972062..29972801-chr4:30382123..30382658,2	MCF-7	breast:
3	chr4:30381873..30382689-chr4:30715704..30716654,2	MCF-7	breast:
4	chr4:30218713..30221733-chr5:137804285..137806893,7	K562	blood:
5	chr4:30248606..30251603-chr4:30254431..30256493,2	K562	blood:
6	chr4:30172346..30174154-chr4:30175506..30177091,2	MCF-7	breast:
7	chr15:65596724..65597359-chr4:30184267..30184768,2	Hela-S3	cervix:
8	chr4:30248606..30251603-chr4:30254431..30256493,2	K562	blood:
9	chr4:30172346..30174154-chr4:30175506..30177091,2	MCF-7	breast:
10	chr4:30190158..30192190-chr4:30196821..30199577,2	MCF-7	breast:
11	chr13:31770079..31770851-chr4:30205505..30206321,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200156	chromatin interactions

Extended variants
information (count: 3224 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:3224 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189629835	chr4:30169627-30169628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546365562	chr4:30169629-30169630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79168153	chr4:30169643-30169644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76316540	chr4:30169670-30169671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377375256	chr4:30169679-30169680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558583438	chr4:30169680-30169681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386673000	chr4:30169681-30169682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7671613	chr4:30169683-30169684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555343144	chr4:30169685-30169686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531651900	chr4:30169713-30169714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150614410	chr4:30169740-30169741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2613166	chr4:30169754-30169755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556105530	chr4:30169761-30169762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569637665	chr4:30169806-30169807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182353104	chr4:30169807-30169808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571854581	chr4:30169811-30169812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555357868	chr4:30169827-30169828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572244773	chr4:30169828-30169829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149794833	chr4:30169836-30169837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369604569	chr4:30169848-30169849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577327507	chr4:30169853-30169854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527850158	chr4:30169872-30169873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7696642	chr4:30169897-30169898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7672215	chr4:30169911-30169912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs117146608	chr4:30169932-30169933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71591544	chr4:30169933-30169934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573654416	chr4:30169953-30169954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535514008	chr4:30169955-30169956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542587926	chr4:30169957-30169958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77296350	chr4:30169961-30169962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527891541	chr4:30169991-30169992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547637476	chr4:30170013-30170014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564621601	chr4:30170028-30170029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533225633	chr4:30170056-30170057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143381702	chr4:30170060-30170061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186971562	chr4:30170068-30170069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535447648	chr4:30170100-30170101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16882984	chr4:30170140-30170141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565787872	chr4:30170156-30170157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190138418	chr4:30170187-30170188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146737282	chr4:30170210-30170211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183235529	chr4:30170223-30170224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537169096	chr4:30170237-30170238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188740039	chr4:30170242-30170243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34935472	chr4:30170278-30170279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398092264	chr4:30170280-30170281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140398840	chr4:30170346-30170347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10011674	chr4:30170349-30170350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142718200	chr4:30170353-30170354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576677113	chr4:30170397-30170398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30169600-30172000	Weak transcription	Fetal Lung	lung
2	chr4:30171800-30173400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:30172200-30172400	Enhancers	Fetal Lung	lung
4	chr4:30173600-30175000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:30173800-30174400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:30187600-30187800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:30191000-30191800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:30191800-30193200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:30193200-30193800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:30193800-30196800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:30196600-30197000	Enhancers	HUVEC	blood vessel
12	chr4:30196800-30197200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:30197800-30198400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:30198000-30198400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:30209600-30209800	Enhancers	A549	lung
16	chr4:30209600-30211200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:30209600-30211400	Enhancers	Hela-S3	cervix
18	chr4:30209800-30210000	Enhancers	Aorta	Aorta
19	chr4:30209800-30210200	Flanking Active TSS	A549	lung
20	chr4:30209800-30210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:30210000-30210800	Enhancers	HMEC	breast
22	chr4:30210000-30211200	Enhancers	NH-A	brain
23	chr4:30210200-30210800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:30210600-30210800	Enhancers	Aorta	Aorta
25	chr4:30211000-30212000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:30215000-30215600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:30217000-30217200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:30228600-30229000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:30228800-30229200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:30228800-30229200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:30245800-30246000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:30246000-30249400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:30257800-30258200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:30258000-30258400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:30258000-30258400	Enhancers	Fetal Muscle Leg	muscle
36	chr4:30265400-30271400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:30266600-30268200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:30266800-30267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:30267000-30267400	Enhancers	Fetal Lung	lung
40	chr4:30271400-30271600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:30277800-30280400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:30282000-30282800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr4:30282600-30282800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:30282800-30283200	Enhancers	Aorta	Aorta
45	chr4:30282800-30283800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:30283200-30283600	Weak transcription	Aorta	Aorta
47	chr4:30283600-30283800	Enhancers	Aorta	Aorta
48	chr4:30283600-30285000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:30283800-30284400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr4:30283800-30285200	Weak transcription	Aorta	Aorta

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