Variant report

Variant	nsv883266
Chromosome Location	chr5:178915784-178936722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178219841..178220793-chr5:178920740..178921735,2	MCF-7	breast:
2	chr5:178219922..178220838-chr5:178920668..178921270,2	MCF-7	breast:
3	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
4	chr5:178923732..178926017-chr5:178977562..178979960,2	MCF-7	breast:
5	chr5:178921207..178921791-chr5:179095335..179095939,2	K562	blood:
6	chr5:178594236..178594749-chr5:178920299..178921066,2	K562	blood:
7	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
8	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
9	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
10	chr5:178593773..178595177-chr5:178920715..178921686,6	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPH1-3	chr5:178930323-178930741	ENSG00000253652

No data

Variant related genes	Relation type
ENSG00000176783	chromatin interactions

Extended variants
information (count: 989 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7735038	chr5:178915784-178915785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554957174	chr5:178915785-178915786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573273472	chr5:178915786-178915787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192236198	chr5:178915791-178915792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370781180	chr5:178915844-178915845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533571859	chr5:178915853-178915854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181597554	chr5:178915858-178915859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577240950	chr5:178915930-178915931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201287925	chr5:178915933-178915934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78688048	chr5:178915934-178915935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573483673	chr5:178915935-178915936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200085277	chr5:178915945-178915946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200684991	chr5:178915946-178915947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544364295	chr5:178915969-178915970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562555058	chr5:178916039-178916040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529752577	chr5:178916055-178916056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541561033	chr5:178916091-178916092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559861679	chr5:178916131-178916132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527280456	chr5:178916139-178916140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551788702	chr5:178916145-178916146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553212873	chr5:178916164-178916165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374189502	chr5:178916165-178916166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551113973	chr5:178916294-178916295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569356141	chr5:178916298-178916299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536900772	chr5:178916354-178916355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185763691	chr5:178916393-178916394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190124028	chr5:178916539-178916540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182396477	chr5:178916551-178916552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188229260	chr5:178916553-178916554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28588909	chr5:178916555-178916556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577030329	chr5:178916556-178916557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537757151	chr5:178916575-178916576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12523446	chr5:178916600-178916601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs2898710	chr5:178916637-178916638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543912945	chr5:178916655-178916656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541662062	chr5:178916674-178916675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559800271	chr5:178916677-178916678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145671874	chr5:178916678-178916679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545359598	chr5:178916686-178916687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554408132	chr5:178916704-178916705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190970134	chr5:178916706-178916707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556434789	chr5:178916731-178916732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550989828	chr5:178916752-178916753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563238456	chr5:178916792-178916793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138158928	chr5:178916811-178916812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540498497	chr5:178916860-178916861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566946172	chr5:178916872-178916873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560822677	chr5:178916880-178916881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534300637	chr5:178916884-178916885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372050911	chr5:178916940-178916941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178902800-178918000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:178911800-178918000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:178913600-178916200	Enhancers	Fetal Brain Male	brain
4	chr5:178913800-178935200	Weak transcription	Right Atrium	heart
5	chr5:178914000-178916400	Enhancers	Fetal Stomach	stomach
6	chr5:178914200-178921800	Weak transcription	Fetal Kidney	kidney
7	chr5:178914600-178918000	Weak transcription	Spleen	Spleen
8	chr5:178915400-178915800	Enhancers	Ovary	ovary
9	chr5:178915400-178916200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:178915400-178916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:178915400-178916400	Enhancers	Fetal Lung	lung
12	chr5:178915400-178916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:178915600-178915800	Enhancers	Fetal Muscle Trunk	muscle
14	chr5:178915600-178916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:178915600-178916400	Enhancers	Fetal Brain Female	brain
16	chr5:178915600-178916400	Enhancers	Fetal Muscle Leg	muscle
17	chr5:178915600-178916600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:178915800-178916200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:178916000-178916400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:178916000-178916400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:178916000-178916400	Enhancers	HUVEC	blood vessel
22	chr5:178916200-178916600	Enhancers	Fetal Muscle Trunk	muscle
23	chr5:178918000-178918200	ZNF genes & repeats	Pancreas	Pancrea
24	chr5:178918000-178918200	ZNF genes & repeats	Spleen	Spleen
25	chr5:178918000-178918400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:178918000-178918600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:178918200-178921800	Weak transcription	Pancreas	Pancrea
28	chr5:178918200-178921800	Weak transcription	Spleen	Spleen
29	chr5:178918400-178925400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:178918600-178921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:178921600-178922200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:178921800-178922000	Bivalent/Poised TSS	Fetal Lung	lung
33	chr5:178921800-178922000	Enhancers	Spleen	Spleen
34	chr5:178921800-178922200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:178921800-178922200	ZNF genes & repeats	Fetal Kidney	kidney
36	chr5:178921800-178922200	ZNF genes & repeats	Pancreas	Pancrea
37	chr5:178922000-178922200	Bivalent Enhancer	Fetal Brain Male	brain
38	chr5:178922000-178922200	Enhancers	Gastric	stomach
39	chr5:178922000-178922400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:178922000-178923000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:178922000-178925200	Weak transcription	Spleen	Spleen
42	chr5:178922200-178931400	Weak transcription	Pancreas	Pancrea
43	chr5:178922600-178922800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:178923000-178923200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:178923000-178923600	Enhancers	Fetal Brain Female	brain
46	chr5:178923600-178923800	Bivalent Enhancer	HepG2	liver
47	chr5:178923600-178924800	Weak transcription	Fetal Brain Female	brain
48	chr5:178924200-178925200	Enhancers	Fetal Brain Male	brain
49	chr5:178924600-178925000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:178924600-178925400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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