Variant report

Variant	nsv822468
Chromosome Location	chr4:7764413-7764868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7763518..7765099-chr4:7771981..7774242,3	K562	blood:
2	chr4:7762573..7764644-chr4:7765812..7768936,3	K562	blood:
3	chr4:7762684..7766410-chr4:7766886..7769453,3	MCF-7	breast:
4	chr4:7764728..7766346-chr4:7767900..7769988,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372433619	chr4:7764417-7764418	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534570345	chr4:7764450-7764451	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546883317	chr4:7764465-7764466	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567880391	chr4:7764488-7764489	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556336689	chr4:7764494-7764495	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10050114	chr4:7764501-7764502	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2158274	chr4:7764516-7764517	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575374017	chr4:7764517-7764518	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149295418	chr4:7764528-7764529	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374751951	chr4:7764572-7764573	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554543999	chr4:7764573-7764574	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576073476	chr4:7764590-7764591	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16841093	chr4:7764591-7764592	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs573199272	chr4:7764619-7764620	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540533383	chr4:7764643-7764644	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562423964	chr4:7764650-7764651	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373470830	chr4:7764679-7764680	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544852515	chr4:7764680-7764681	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563366043	chr4:7764687-7764688	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530672780	chr4:7764706-7764707	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543748210	chr4:7764725-7764726	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112292724	chr4:7764749-7764750	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552255839	chr4:7764791-7764792	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16841096	chr4:7764806-7764807	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113764777	chr4:7764812-7764813	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2107182	chr4:7764821-7764822	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs376170873	chr4:7764823-7764824	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113932998	chr4:7764832-7764833	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550407219	chr4:7764852-7764853	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7740200-7765000	Weak transcription	Aorta	Aorta
2	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7749400-7765600	Weak transcription	Fetal Brain Male	brain
4	chr4:7749400-7767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:7752800-7767400	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:7754200-7765400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:7756000-7766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:7756400-7767800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:7756600-7768000	Weak transcription	Brain Angular Gyrus	brain
11	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
12	chr4:7757600-7765400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:7757600-7765400	Strong transcription	Osteobl	bone
14	chr4:7757600-7770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:7757800-7768200	Weak transcription	Fetal Heart	heart
17	chr4:7757800-7768600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:7757800-7772000	Strong transcription	Fetal Intestine Small	intestine
19	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:7758200-7764600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
23	chr4:7758600-7780600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
25	chr4:7759800-7771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:7759800-7773800	Weak transcription	Fetal Kidney	kidney
27	chr4:7760000-7770000	Strong transcription	Fetal Stomach	stomach
28	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
29	chr4:7760000-7783200	Strong transcription	HSMM	muscle
30	chr4:7760200-7768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:7760200-7774200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:7760200-7779400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:7760400-7765000	Weak transcription	Spleen	Spleen
34	chr4:7760400-7767200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:7760400-7768400	Weak transcription	Left Ventricle	heart
36	chr4:7760400-7780400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:7760600-7765400	Strong transcription	HUVEC	blood vessel
38	chr4:7760600-7780000	Weak transcription	Right Atrium	heart
39	chr4:7761000-7764600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:7761000-7767800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr4:7761000-7780400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:7761200-7766000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:7761200-7769800	Weak transcription	Small Intestine	intestine
44	chr4:7761200-7770600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:7761200-7772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:7761200-7781000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:7761400-7765600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:7761400-7773400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:7761600-7767800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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