Variant report

Variant	nsv275902
Chromosome Location	chr4:7027894-7027894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7027451..7029450-chr4:7044723..7047083,2	MCF-7	breast:
2	chr4:7021136..7024360-chr4:7026095..7028817,3	K562	blood:
3	chr4:7025982..7029659-chr4:7032116..7035244,4	K562	blood:
4	chr4:7019555..7022636-chr4:7025338..7028522,3	K562	blood:

Variant related genes	Relation type
ENSG00000173011	chromatin interactions
ENSG00000173013	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 53 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397878152	chr4:7027894-7027895	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
2	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
3	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:7000600-7034400	Strong transcription	Dnd41	blood
8	chr4:7001400-7034600	Strong transcription	Primary T cells from cord blood	blood
9	chr4:7001600-7035200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:7001600-7035400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:7001800-7029000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr4:7001800-7035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:7002000-7034400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:7002200-7035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:7002400-7034400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:7003600-7032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:7008200-7034600	Strong transcription	Fetal Brain Female	brain
18	chr4:7008200-7035200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr4:7008400-7035400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:7008400-7035400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:7008800-7035000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:7009800-7035200	Strong transcription	Fetal Intestine Large	intestine
23	chr4:7009800-7035600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:7010000-7034600	Strong transcription	Adipose Nuclei	Adipose
25	chr4:7010200-7032600	Weak transcription	Stomach Mucosa	stomach
26	chr4:7010800-7035000	Strong transcription	Esophagus	oesophagus
27	chr4:7011600-7036600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:7011600-7043600	Weak transcription	Psoas Muscle	Psoas
29	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:7014200-7032800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:7014400-7034400	Strong transcription	Fetal Thymus	thymus
32	chr4:7014600-7028400	Strong transcription	Colonic Mucosa	Colon
33	chr4:7014600-7034600	Strong transcription	Thymus	Thymus
34	chr4:7014800-7029800	Strong transcription	Pancreas	Pancrea
35	chr4:7016000-7031600	Weak transcription	HUVEC	blood vessel
36	chr4:7016600-7029200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:7016600-7030200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:7016600-7034400	Strong transcription	Primary B cells from cord blood	blood
39	chr4:7016800-7032600	Strong transcription	Spleen	Spleen
40	chr4:7017400-7029000	Weak transcription	Fetal Brain Male	brain
41	chr4:7018000-7029000	Weak transcription	Fetal Kidney	kidney
42	chr4:7018400-7043200	Weak transcription	Fetal Heart	heart
43	chr4:7018600-7031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:7018600-7035600	Strong transcription	Fetal Intestine Small	intestine
45	chr4:7018800-7032400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:7019400-7030000	Strong transcription	Liver	Liver
47	chr4:7020000-7032600	Weak transcription	HSMMtube	muscle
48	chr4:7020400-7035400	Strong transcription	Fetal Muscle Leg	muscle
49	chr4:7021400-7030200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:7021400-7036200	Strong transcription	Fetal Muscle Trunk	muscle

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