Variant report

Variant	nsv998112
Chromosome Location	chr4:30101521-30303928
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:30108481..30110842-chr4:30143021..30145744,2	K562	blood:
2	chr4:30172346..30174154-chr4:30175506..30177091,2	MCF-7	breast:
3	chr4:30108481..30110842-chr4:30143021..30145744,2	K562	blood:
4	chr4:30248606..30251603-chr4:30254431..30256493,2	K562	blood:
5	chr4:30218713..30221733-chr5:137804285..137806893,7	K562	blood:
6	chr4:30248606..30251603-chr4:30254431..30256493,2	K562	blood:
7	chr4:30190158..30192190-chr4:30196821..30199577,2	MCF-7	breast:
8	chr15:65596724..65597359-chr4:30184267..30184768,2	Hela-S3	cervix:
9	chr4:30128238..30130674-chr4:30130839..30133717,2	MCF-7	breast:
10	chr13:46714477..46715323-chr4:30113851..30114490,2	MCF-7	breast:
11	chr4:30128238..30130674-chr4:30130839..30133717,2	MCF-7	breast:
12	chr13:31770079..31770851-chr4:30205505..30206321,2	MCF-7	breast:
13	chr4:30172346..30174154-chr4:30175506..30177091,2	MCF-7	breast:
14	chr4:30190158..30192190-chr4:30196821..30199577,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200156	chromatin interactions

Extended variants
information (count: 3417 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3417 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563869608	chr4:30104013-30104014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113454518	chr4:30104025-30104026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371676964	chr4:30104026-30104027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564978639	chr4:30104055-30104056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74475853	chr4:30104066-30104067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186860647	chr4:30104100-30104101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150912704	chr4:30104133-30104134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575693953	chr4:30104148-30104149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139234517	chr4:30104199-30104200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368867788	chr4:30104200-30104201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566369440	chr4:30104256-30104257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535045117	chr4:30104294-30104295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558427737	chr4:30104297-30104298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188953774	chr4:30104446-30104447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373956643	chr4:30104457-30104458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149988818	chr4:30104458-30104459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574154553	chr4:30104460-30104461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376884921	chr4:30104470-30104471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73217428	chr4:30104508-30104509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145222335	chr4:30104542-30104543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565170675	chr4:30104547-30104548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530631698	chr4:30104570-30104571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543972809	chr4:30104591-30104592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181753758	chr4:30104592-30104593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111758291	chr4:30104635-30104636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529697899	chr4:30104682-30104683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546277789	chr4:30104692-30104693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35428463	chr4:30104747-30104748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566394809	chr4:30104785-30104786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79030393	chr4:30104790-30104791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576346434	chr4:30104798-30104799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369838169	chr4:30104801-30104802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545222626	chr4:30104807-30104808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571878243	chr4:30104914-30104915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374238957	chr4:30104918-30104919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543171615	chr4:30104923-30104924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186221341	chr4:30105011-30105012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567771346	chr4:30105013-30105014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370800076	chr4:30105022-30105023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77641748	chr4:30105048-30105049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553409012	chr4:30105066-30105067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573190746	chr4:30105110-30105111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143736767	chr4:30105119-30105120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558599195	chr4:30105148-30105149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373837458	chr4:30105174-30105175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567603945	chr4:30105217-30105218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79123082	chr4:30105231-30105232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377004106	chr4:30105265-30105266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141037451	chr4:30105275-30105276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144864534	chr4:30105284-30105285	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
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

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30104000-30106000	Enhancers	HUVEC	blood vessel
2	chr4:30104400-30106000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:30104800-30106000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:30105200-30105600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:30105600-30117200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:30107000-30107400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr4:30107400-30107600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:30107600-30108000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:30117200-30118800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:30117400-30117800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:30117400-30118400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:30117600-30117800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:30118000-30118400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:30122800-30123000	Enhancers	Fetal Lung	lung
15	chr4:30123200-30124200	Weak transcription	Fetal Lung	lung
16	chr4:30124200-30125600	Enhancers	Fetal Lung	lung
17	chr4:30124800-30126400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:30125600-30126800	Weak transcription	Fetal Lung	lung
19	chr4:30126800-30127800	Enhancers	Fetal Lung	lung
20	chr4:30127800-30128200	Weak transcription	Fetal Lung	lung
21	chr4:30128200-30128800	Enhancers	Fetal Lung	lung
22	chr4:30145200-30146000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:30145200-30146200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:30146000-30147000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:30146200-30150000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:30147000-30147200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr4:30149000-30153000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:30149200-30152200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:30149600-30149800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:30149800-30150800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:30150000-30150800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:30150000-30151600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:30150000-30152800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:30150200-30151200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:30150200-30153000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:30150800-30151600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:30150800-30151600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:30150800-30152200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:30151000-30152200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:30151200-30152800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:30151600-30151800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:30151600-30152000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr4:30151600-30152000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:30151600-30152200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:30151600-30152200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:30152000-30152800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:30152000-30153000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:30152000-30155000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:30152200-30154800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:30152800-30153000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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