Variant report

Variant	nsv4282
Chromosome Location	chr4:27914655-27959474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29572893..29574500-chr4:27935942..27938395,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STIM2-3	chr4:27932802-27933056	NONHSAT095904
2	lnc-STIM2-3	chr4:27932803-27932960	XLOC_003486
3	lnc-STIM2-3	chr4:27932803-27933056	XLOC_003486

Extended variants
information (count: 840 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:840 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192784365	chr4:27917012-27917013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575365436	chr4:27917021-27917022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs957956	chr4:27917029-27917030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs200386364	chr4:27917065-27917066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184873698	chr4:27917070-27917071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574700484	chr4:27917071-27917072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369174528	chr4:27917108-27917109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4575982	chr4:27917129-27917130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189286397	chr4:27917138-27917139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572946700	chr4:27917162-27917163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544951520	chr4:27917164-27917165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565046738	chr4:27917170-27917171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113128096	chr4:27917234-27917235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143565583	chr4:27917285-27917286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148029938	chr4:27917286-27917287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530298581	chr4:27917304-27917305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141912472	chr4:27917314-27917315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567151505	chr4:27917348-27917349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180785651	chr4:27917381-27917382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550383650	chr4:27917431-27917432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368296595	chr4:27917485-27917486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146541840	chr4:27917487-27917488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184764326	chr4:27917512-27917513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554630218	chr4:27917564-27917565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139035657	chr4:27917725-27917726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533985205	chr4:27917749-27917750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562976636	chr4:27917751-27917752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs66743351	chr4:27917772-27917773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376565517	chr4:27917790-27917791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545014736	chr4:27917796-27917797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558499532	chr4:27917798-27917799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142954864	chr4:27917840-27917841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368164979	chr4:27917871-27917872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561424287	chr4:27917884-27917885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147539537	chr4:27917940-27917941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530332134	chr4:27918084-27918085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560778423	chr4:27918086-27918087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532821290	chr4:27918105-27918106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570525111	chr4:27918111-27918112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139394621	chr4:27918114-27918115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189224407	chr4:27918125-27918126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369650519	chr4:27918149-27918150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149637012	chr4:27918168-27918169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548023012	chr4:27918172-27918173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568098527	chr4:27918174-27918175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373265244	chr4:27918187-27918188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533754663	chr4:27918188-27918189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13138763	chr4:27918196-27918197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77598915	chr4:27918217-27918218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144360417	chr4:27918305-27918306	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27917000-27923600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:27917200-27919800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:27917400-27918600	Enhancers	Brain Hippocampus Middle	brain
4	chr4:27918000-27918600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:27918000-27919200	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:27918000-27919200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr4:27918000-27919600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:27918000-27919600	Enhancers	Brain Angular Gyrus	brain
9	chr4:27918000-27919800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:27918000-27920400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:27918000-27921400	Enhancers	Brain Substantia Nigra	brain
12	chr4:27918200-27918600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:27918200-27918600	Enhancers	Brain Anterior Caudate	brain
14	chr4:27918200-27918800	Enhancers	Fetal Heart	heart
15	chr4:27918200-27919400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:27918200-27921000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:27918400-27918800	Enhancers	Fetal Lung	lung
18	chr4:27918600-27918800	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr4:27918600-27918800	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr4:27918600-27919600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:27918600-27922800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:27918800-27919000	Enhancers	Brain Hippocampus Middle	brain
23	chr4:27918800-27919200	Enhancers	Brain Anterior Caudate	brain
24	chr4:27918800-27919400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:27918800-27922600	Weak transcription	Fetal Lung	lung
26	chr4:27919000-27919200	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr4:27919200-27919400	Active TSS	Brain Anterior Caudate	brain
28	chr4:27919200-27919600	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr4:27919200-27919600	Enhancers	Brain Hippocampus Middle	brain
30	chr4:27919200-27919600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:27919400-27919600	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr4:27919600-27919800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:27919600-27920400	Enhancers	Brain Anterior Caudate	brain
34	chr4:27919600-27920400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:27919600-27922200	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:27919800-27922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:27920400-27922000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:27920400-27922200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:27921000-27926000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:27921400-27929600	Weak transcription	Brain Substantia Nigra	brain
41	chr4:27922200-27922400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:27922200-27922400	Enhancers	Brain Hippocampus Middle	brain
43	chr4:27922200-27922400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:27922400-27923000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:27922600-27923000	Enhancers	HMEC	breast
46	chr4:27922600-27923200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:27922600-27923800	Enhancers	Fetal Lung	lung
48	chr4:27922800-27923000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:27922800-27923000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:27922800-27923200	Enhancers	Muscle Satellite Cultured Cells	--

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