Variant report

Variant	nsv878750
Chromosome Location	chr4:21492445-21520250
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:21510988..21512730-chr4:21514428..21516962,2	K562	blood:
2	chr4:21513660..21514733-chr4:21769803..21771071,4	MCF-7	breast:
3	chr4:21513432..21514751-chr4:21767040..21768803,10	MCF-7	breast:
4	chr4:21513582..21515656-chr4:21764630..21766290,2	MCF-7	breast:
5	chr4:21508722..21509309-chr4:21767490..21768052,2	MCF-7	breast:
6	chr4:21497861..21500462-chr4:21501332..21503199,2	K562	blood:
7	chr4:21513547..21514492-chr4:21769669..21770605,6	MCF-7	breast:
8	chr4:21510988..21512730-chr4:21514428..21516962,2	K562	blood:
9	chr4:21497861..21500462-chr4:21501332..21503199,2	K562	blood:

No data

Extended variants
information (count: 1208 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6830109	chr4:21492445-21492446	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs16871198	chr4:21492522-21492523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373578242	chr4:21492530-21492531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550876087	chr4:21492535-21492536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569245840	chr4:21492593-21492594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75525090	chr4:21492601-21492602	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560846112	chr4:21492613-21492614	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554192075	chr4:21492635-21492636	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566335096	chr4:21492669-21492670	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552208164	chr4:21492670-21492671	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544476941	chr4:21492671-21492672	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533899140	chr4:21492752-21492753	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73107940	chr4:21492760-21492761	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576992076	chr4:21492824-21492825	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544389138	chr4:21492833-21492834	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187837806	chr4:21492845-21492846	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545667580	chr4:21492852-21492853	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542134021	chr4:21492881-21492882	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35705890	chr4:21492894-21492895	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192461678	chr4:21492904-21492905	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573108372	chr4:21492908-21492909	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183187622	chr4:21492939-21492940	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565198827	chr4:21492945-21492946	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532453641	chr4:21492977-21492978	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550791942	chr4:21492985-21492986	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562741562	chr4:21492997-21492998	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530367355	chr4:21493036-21493037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548559822	chr4:21493046-21493047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141315169	chr4:21493066-21493067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10002399	chr4:21493084-21493085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187064224	chr4:21493092-21493093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570479805	chr4:21493143-21493144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537935256	chr4:21493164-21493165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556434616	chr4:21493187-21493188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574642397	chr4:21493188-21493189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191837122	chr4:21493249-21493250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371574137	chr4:21493309-21493310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553754803	chr4:21493319-21493320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573203674	chr4:21493328-21493329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150239526	chr4:21493388-21493389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62301288	chr4:21493391-21493392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138069418	chr4:21493431-21493432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10025003	chr4:21493467-21493468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184375746	chr4:21493468-21493469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562752213	chr4:21493487-21493488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530188821	chr4:21493498-21493499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189082793	chr4:21493561-21493562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10014758	chr4:21493575-21493576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527972543	chr4:21493639-21493640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551930171	chr4:21493662-21493663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	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
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21487600-21492600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21492000-21492600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:21492200-21492800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:21492400-21493000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:21492600-21493000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:21493000-21494400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:21494400-21495800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:21495800-21496600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:21496600-21497000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:21497000-21514200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:21500200-21500600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:21502400-21503000	Enhancers	Fetal Heart	heart
13	chr4:21513200-21514200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:21514000-21514200	Bivalent Enhancer	HUVEC	blood vessel
15	chr4:21514200-21514600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:21514200-21515800	Enhancers	Fetal Heart	heart
17	chr4:21514600-21516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:21515800-21519000	Weak transcription	Fetal Heart	heart
19	chr4:21516800-21518600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:21518600-21521600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:21519000-21519800	Enhancers	Fetal Heart	heart
22	chr4:21519800-21520200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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