Variant report

Variant	nsv984567
Chromosome Location	chr4:27887719-27919643
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	chr4:27902408..27905217-chr4:27907110..27909637,2	K562	blood:
2	chr4:27902408..27905217-chr4:27907110..27909637,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STIM2-3	chr4:27904189-27904228	NONHSAT095904
2	lnc-STIM2-3	chr4:27904190-27904228	XLOC_003486
3	lnc-STIM2-3	chr4:27904205-27904228	XLOC_003486

Extended variants
information (count: 241 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534744468	chr4:27888050-27888051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368225637	chr4:27888073-27888074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145526436	chr4:27888074-27888075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539341309	chr4:27888119-27888120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558953768	chr4:27888141-27888142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147802625	chr4:27888182-27888183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61793038	chr4:27888224-27888225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188548240	chr4:27888297-27888298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193154374	chr4:27888320-27888321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60279172	chr4:27888327-27888328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574572886	chr4:27888328-27888329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540462693	chr4:27888337-27888338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560307647	chr4:27888380-27888381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184896763	chr4:27888386-27888387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577514574	chr4:27888389-27888390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546134445	chr4:27888394-27888395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371744600	chr4:27888401-27888402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61793039	chr4:27888407-27888408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs57571138	chr4:27888520-27888521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553120241	chr4:27888548-27888549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56375312	chr4:27888563-27888564	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547650406	chr4:27888566-27888567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113878705	chr4:27888577-27888578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577787966	chr4:27888612-27888613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57563760	chr4:27888617-27888618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191360158	chr4:27888626-27888627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148860085	chr4:27888653-27888654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143494676	chr4:27888658-27888659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147991273	chr4:27888681-27888682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571355268	chr4:27888686-27888687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534025234	chr4:27888705-27888706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553949318	chr4:27888728-27888729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577327379	chr4:27888779-27888780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61179454	chr4:27888790-27888791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs13145714	chr4:27888838-27888839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183455555	chr4:27888839-27888840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373520347	chr4:27888856-27888857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs16879937	chr4:27888866-27888867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs189352057	chr4:27888898-27888899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140661734	chr4:27888938-27888939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536510882	chr4:27888967-27888968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192644239	chr4:27892213-27892214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78285930	chr4:27892228-27892229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185684471	chr4:27892291-27892292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565482191	chr4:27892298-27892299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373386945	chr4:27892315-27892316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377565222	chr4:27892318-27892319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190495209	chr4:27892325-27892326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192948357	chr4:27892333-27892334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571586230	chr4:27892335-27892336	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
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27888000-27889000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:27892200-27892800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:27898400-27899400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:27912000-27912400	Enhancers	Brain Substantia Nigra	brain
5	chr4:27917000-27923600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:27917200-27919800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:27917400-27918600	Enhancers	Brain Hippocampus Middle	brain
8	chr4:27918000-27918600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:27918000-27919200	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:27918000-27919200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:27918000-27919600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:27918000-27919600	Enhancers	Brain Angular Gyrus	brain
13	chr4:27918000-27919800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:27918000-27920400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:27918000-27921400	Enhancers	Brain Substantia Nigra	brain
16	chr4:27918200-27918600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:27918200-27918600	Enhancers	Brain Anterior Caudate	brain
18	chr4:27918200-27918800	Enhancers	Fetal Heart	heart
19	chr4:27918200-27919400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:27918200-27921000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:27918400-27918800	Enhancers	Fetal Lung	lung
22	chr4:27918600-27918800	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr4:27918600-27918800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr4:27918600-27919600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:27918600-27922800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:27918800-27919000	Enhancers	Brain Hippocampus Middle	brain
27	chr4:27918800-27919200	Enhancers	Brain Anterior Caudate	brain
28	chr4:27918800-27919400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:27918800-27922600	Weak transcription	Fetal Lung	lung
30	chr4:27919000-27919200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr4:27919200-27919400	Active TSS	Brain Anterior Caudate	brain
32	chr4:27919200-27919600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr4:27919200-27919600	Enhancers	Brain Hippocampus Middle	brain
34	chr4:27919200-27919600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:27919400-27919600	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr4:27919600-27919800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:27919600-27920400	Enhancers	Brain Anterior Caudate	brain
38	chr4:27919600-27920400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr4:27919600-27922200	Weak transcription	Brain Hippocampus Middle	brain

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