Variant report

Variant	nsv1011494
Chromosome Location	chr4:87221480-87257453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87253478..87254333-chr4:87266353..87266878,2	K562	blood:
2	chr4:87256963..87259889-chr4:87277472..87279132,2	K562	blood:
3	chr4:87226178..87227870-chr4:87231793..87233350,2	MCF-7	breast:
4	chr4:87226178..87227870-chr4:87231793..87233350,2	MCF-7	breast:
5	chr4:87252863..87254625-chr4:87263758..87265638,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A6-4	chr4:87221733-87222013	NONHSAT097277

Variant related genes	Relation type
ENSG00000109339	chromatin interactions

Extended variants
information (count: 1262 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6827098	chr4:87221480-87221481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140958569	chr4:87221506-87221507	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6827483	chr4:87221597-87221598	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs70948785	chr4:87221629-87221630	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556489634	chr4:87221668-87221669	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577797246	chr4:87221686-87221687	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538806314	chr4:87221803-87221804	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs17449015	chr4:87221827-87221828	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572125142	chr4:87221849-87221850	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs542277293	chr4:87221850-87221851	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs560555940	chr4:87221871-87221872	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs575631648	chr4:87221876-87221877	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs543739242	chr4:87221939-87221940	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs374692290	chr4:87221978-87221979	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549565395	chr4:87222046-87222047	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565549228	chr4:87222056-87222057	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56200719	chr4:87222058-87222059	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs397994371	chr4:87222060-87222061	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74536247	chr4:87222061-87222062	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547982600	chr4:87222124-87222125	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376543597	chr4:87222129-87222130	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538438478	chr4:87222139-87222140	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61187520	chr4:87222144-87222145	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114107647	chr4:87222176-87222177	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181652720	chr4:87222206-87222207	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62305546	chr4:87222239-87222240	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570104260	chr4:87222255-87222256	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185828423	chr4:87222317-87222318	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188588111	chr4:87222328-87222329	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571539912	chr4:87222355-87222356	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556936646	chr4:87222408-87222409	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538523713	chr4:87222439-87222440	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568348914	chr4:87222444-87222445	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565692435	chr4:87222471-87222472	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116664555	chr4:87222498-87222499	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142412687	chr4:87222542-87222543	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111965801	chr4:87222567-87222568	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114683375	chr4:87222581-87222582	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543033912	chr4:87222628-87222629	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558230487	chr4:87222658-87222659	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17408832	chr4:87222696-87222697	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541315550	chr4:87222708-87222709	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73834268	chr4:87222710-87222711	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530305755	chr4:87222720-87222721	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553818832	chr4:87222726-87222727	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35788198	chr4:87222763-87222764	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73834269	chr4:87222933-87222934	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1460752	chr4:87222942-87222943	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570719039	chr4:87222957-87222958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181059314	chr4:87222977-87222978	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87215000-87222600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:87215200-87222200	Weak transcription	Aorta	Aorta
3	chr4:87215400-87222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:87215600-87223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:87215800-87223400	Weak transcription	HSMMtube	muscle
6	chr4:87216000-87222000	Weak transcription	Brain Germinal Matrix	brain
7	chr4:87216200-87221600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:87216200-87222200	Weak transcription	Fetal Stomach	stomach
9	chr4:87216200-87223800	Weak transcription	Brain Angular Gyrus	brain
10	chr4:87216200-87231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:87216400-87222200	Weak transcription	Brain Anterior Caudate	brain
12	chr4:87216400-87222800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:87217400-87228200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:87219400-87221600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:87219800-87221800	Weak transcription	Ovary	ovary
16	chr4:87219800-87222200	Weak transcription	Brain Substantia Nigra	brain
17	chr4:87221600-87223000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:87221600-87224400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:87221800-87222000	Enhancers	Ovary	ovary
20	chr4:87221800-87222600	Enhancers	Rectal Smooth Muscle	rectum
21	chr4:87221800-87223800	Enhancers	Fetal Muscle Leg	muscle
22	chr4:87221800-87224200	Enhancers	Fetal Lung	lung
23	chr4:87222000-87222600	Enhancers	Adipose Nuclei	Adipose
24	chr4:87222000-87222800	Enhancers	Brain Germinal Matrix	brain
25	chr4:87222200-87222400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:87222200-87222400	Enhancers	Aorta	Aorta
27	chr4:87222200-87222400	Enhancers	Brain Anterior Caudate	brain
28	chr4:87222200-87222400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:87222200-87222600	Enhancers	Colon Smooth Muscle	Colon
30	chr4:87222200-87223400	Enhancers	Brain Hippocampus Middle	brain
31	chr4:87222200-87223800	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:87222200-87224000	Enhancers	Fetal Stomach	stomach
33	chr4:87222200-87224600	Enhancers	Brain Substantia Nigra	brain
34	chr4:87222400-87222800	Weak transcription	Brain Anterior Caudate	brain
35	chr4:87222400-87223200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:87222400-87224400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:87222400-87239000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:87222600-87223000	Weak transcription	Adipose Nuclei	Adipose
39	chr4:87222600-87223200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:87222600-87225400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:87222800-87223200	Enhancers	Colon Smooth Muscle	Colon
42	chr4:87222800-87223600	Enhancers	Brain Anterior Caudate	brain
43	chr4:87222800-87223800	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr4:87222800-87223800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr4:87222800-87224200	Enhancers	Fetal Brain Female	brain
46	chr4:87222800-87224400	Enhancers	Fetal Kidney	kidney
47	chr4:87223000-87223200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:87223000-87223600	Enhancers	Adipose Nuclei	Adipose
49	chr4:87223000-87224200	Enhancers	Fetal Brain Male	brain
50	chr4:87223200-87223400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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