Variant report

Variant	nsv517921
Chromosome Location	chr4:82315470-82346835
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:82326725..82327501-chr4:82840095..82841287,3	MCF-7	breast:
2	chr4:82317438..82320291-chr4:82320653..82322618,2	K562	blood:
3	chr4:82337897..82339898-chr4:82380969..82382702,2	K562	blood:
4	chr4:82326953..82327888-chr4:82765613..82766496,6	MCF-7	breast:
5	chr4:82342729..82344646-chr4:82349482..82351498,2	K562	blood:
6	chr4:82342860..82344646-chr4:82347755..82350982,3	K562	blood:
7	chr4:82327008..82327570-chr4:82765988..82766495,2	K562	blood:
8	chr4:82345669..82347516-chr4:82348800..82350865,2	K562	blood:
9	chr4:82328359..82330272-chr4:82331686..82335008,3	K562	blood:
10	chr4:82327000..82327810-chr4:82341931..82342605,2	K562	blood:
11	chr4:82340135..82342826-chr4:82350602..82352367,3	K562	blood:
12	chr4:82338718..82341149-chr4:82343228..82345190,2	K562	blood:
13	chr4:82327129..82328804-chr4:82341208..82343737,2	K562	blood:
14	chr4:82326802..82327531-chr4:83189460..83190762,4	MCF-7	breast:
15	chr4:82326927..82327852-chr4:82345884..82346881,4	K562	blood:
16	chr4:82342653..82344315-chr4:82756584..82758105,2	K562	blood:
17	chr4:82326836..82327578-chr4:82476960..82477646,2	K562	blood:
18	chr4:82328359..82330272-chr4:82331686..82335008,3	K562	blood:
19	chr4:82326952..82327640-chr4:83139246..83140172,3	MCF-7	breast:
20	chr4:82327052..82327580-chr4:83189067..83189954,2	K562	blood:
21	chr4:82327015..82327603-chr4:83122849..83123538,2	MCF-7	breast:
22	chr4:82341314..82344179-chr4:82360678..82363894,3	K562	blood:
23	chr4:82338718..82341149-chr4:82343228..82345190,2	K562	blood:
24	chr4:82326881..82327563-chr4:82770505..82771402,2	MCF-7	breast:
25	chr4:82341740..82344236-chr4:82345813..82347931,2	MCF-7	breast:
26	chr4:82332819..82334854-chr4:82340131..82342446,3	K562	blood:
27	chr4:82341740..82344236-chr4:82345813..82347931,2	MCF-7	breast:
28	chr4:82326946..82327647-chr4:83122824..83123511,5	K562	blood:
29	chr4:82327000..82327810-chr4:82341931..82342605,2	K562	blood:
30	chr4:82326902..82327525-chr4:82765379..82766275,4	MCF-7	breast:
31	chr4:82327020..82327704-chr4:83189488..83190807,3	MCF-7	breast:
32	chr4:82330902..82334984-chr4:82339313..82344776,5	K562	blood:
33	chr4:82330902..82334984-chr4:82339313..82344776,5	K562	blood:
34	chr4:82326927..82327852-chr4:82345884..82346881,4	K562	blood:
35	chr4:82317438..82320291-chr4:82320653..82322618,2	K562	blood:
36	chr4:82332819..82334854-chr4:82340131..82342446,3	K562	blood:
37	chr4:82343748..82345292-chr4:82377281..82379980,2	K562	blood:
38	chr4:82326919..82327448-chr4:83206445..83206978,2	MCF-7	breast:
39	chr4:82327129..82328804-chr4:82341208..82343737,2	K562	blood:
40	chr4:82327037..82327640-chr4:83122910..83123879,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138670	chromatin interactions

Extended variants
information (count: 1128 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569165928	chr4:82316203-82316204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141489606	chr4:82316222-82316223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548766020	chr4:82316226-82316227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17499996	chr4:82316242-82316243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533880015	chr4:82316308-82316309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553946646	chr4:82316327-82316328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573474799	chr4:82316329-82316330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545648338	chr4:82316337-82316338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200264936	chr4:82316371-82316372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78691742	chr4:82316372-82316373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201226185	chr4:82316373-82316374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558973452	chr4:82316423-82316424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575912184	chr4:82316455-82316456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150430087	chr4:82316529-82316530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184238688	chr4:82316582-82316583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189110710	chr4:82316660-82316661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540320796	chr4:82316677-82316678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116090082	chr4:82316694-82316695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193068767	chr4:82316713-82316714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184595423	chr4:82316714-82316715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138187261	chr4:82316725-82316726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145266546	chr4:82316758-82316759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373394168	chr4:82316795-82316796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72663846	chr4:82316842-82316843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6854417	chr4:82316862-82316863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568037627	chr4:82316882-82316883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533815999	chr4:82316949-82316950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115410719	chr4:82316962-82316963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371480405	chr4:82316963-82316964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77753774	chr4:82316976-82316977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559130942	chr4:82316985-82316986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537370739	chr4:82317021-82317022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557187130	chr4:82317039-82317040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575801808	chr4:82317080-82317081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147238389	chr4:82317086-82317087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12646233	chr4:82317113-82317114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138222564	chr4:82317128-82317129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574470109	chr4:82317157-82317158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540263943	chr4:82317200-82317201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560178778	chr4:82317208-82317209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189164802	chr4:82317280-82317281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545630848	chr4:82317359-82317360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562710366	chr4:82317461-82317462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116759566	chr4:82317519-82317520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548459488	chr4:82317527-82317528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146062045	chr4:82317533-82317534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574186351	chr4:82317542-82317543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79355765	chr4:82317546-82317547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567094871	chr4:82317632-82317633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372330942	chr4:82317634-82317635	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82316200-82316800	Enhancers	Left Ventricle	heart
2	chr4:82316200-82317200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:82316600-82321000	Enhancers	Fetal Intestine Large	intestine
4	chr4:82317000-82320800	Enhancers	Fetal Intestine Small	intestine
5	chr4:82319600-82320400	Enhancers	Fetal Muscle Trunk	muscle
6	chr4:82319600-82321800	Enhancers	Fetal Muscle Leg	muscle
7	chr4:82320400-82321000	Enhancers	Right Atrium	heart
8	chr4:82320800-82325600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:82321000-82325600	Weak transcription	Fetal Intestine Large	intestine
10	chr4:82321000-82335800	Weak transcription	Right Atrium	heart
11	chr4:82321200-82321400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:82325600-82326800	Enhancers	Fetal Intestine Large	intestine
13	chr4:82325600-82327600	Enhancers	Fetal Intestine Small	intestine
14	chr4:82326000-82326200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:82326400-82326600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr4:82326800-82327000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:82326800-82327000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:82326800-82327000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:82326800-82327000	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr4:82326800-82327000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:82326800-82327000	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:82326800-82327000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr4:82326800-82327000	Flanking Active TSS	NHDF-Ad	bronchial
24	chr4:82326800-82327200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr4:82326800-82327200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:82326800-82327200	Enhancers	Dnd41	blood
27	chr4:82326800-82327400	Enhancers	Primary T cells from cord blood	blood
28	chr4:82326800-82327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:82326800-82327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr4:82326800-82327400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:82326800-82327400	Enhancers	Fetal Kidney	kidney
32	chr4:82326800-82327400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr4:82326800-82327600	Enhancers	Adipose Nuclei	Adipose
34	chr4:82326800-82327600	Enhancers	Liver	Liver
35	chr4:82326800-82327600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr4:82326800-82327600	Enhancers	NHEK	skin
37	chr4:82326800-82327800	Enhancers	Brain Hippocampus Middle	brain
38	chr4:82327000-82327200	Active TSS	NHDF-Ad	bronchial
39	chr4:82327000-82327400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr4:82327000-82327400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr4:82327000-82327400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:82327000-82327400	Active TSS	Brain Anterior Caudate	brain
43	chr4:82327000-82327400	Active TSS	Fetal Intestine Large	intestine
44	chr4:82327000-82327400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr4:82327000-82327400	Active TSS	Stomach Smooth Muscle	stomach
46	chr4:82327000-82327600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr4:82327000-82327600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:82327200-82327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr4:82327200-82327400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:82327200-82327600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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