Variant report

Variant	nsv968862
Chromosome Location	chr5:178597789-178599380
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	chr5:178599047..178601683-chr5:178602682..178604778,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77231735	chr5:178597860-178597861	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs533945315	chr5:178597864-178597865	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs76405800	chr5:178597872-178597873	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs570496505	chr5:178597873-178597874	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs566671066	chr5:178597896-178597897	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs537977528	chr5:178597967-178597968	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs78988206	chr5:178598014-178598015	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs199935107	chr5:178598033-178598034	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs541964179	chr5:178598040-178598041	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs150139426	chr5:178598114-178598115	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs553783544	chr5:178598122-178598123	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572349739	chr5:178598142-178598143	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs375760225	chr5:178598172-178598173	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs370138464	chr5:178598212-178598213	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs151073690	chr5:178598237-178598238	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs531314627	chr5:178598273-178598274	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs115222927	chr5:178598287-178598288	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs554981797	chr5:178598299-178598300	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs532862660	chr5:178598315-178598316	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs561733434	chr5:178598332-178598333	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs530327572	chr5:178598333-178598334	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs548719179	chr5:178598391-178598392	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs566949560	chr5:178598393-178598394	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs528021098	chr5:178598466-178598467	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs190474390	chr5:178598478-178598479	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs570533169	chr5:178598494-178598495	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs147422231	chr5:178598522-178598523	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs537812822	chr5:178598531-178598532	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs556246353	chr5:178598535-178598536	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs568166931	chr5:178598547-178598548	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs181734195	chr5:178598614-178598615	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186052840	chr5:178598617-178598618	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572134013	chr5:178598627-178598628	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560656105	chr5:178598644-178598645	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546108287	chr5:178598645-178598646	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13184510	chr5:178598691-178598692	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576125718	chr5:178598735-178598736	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75917504	chr5:178598743-178598744	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545906756	chr5:178598770-178598771	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4700786	chr5:178598778-178598779	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573727411	chr5:178598824-178598825	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150200370	chr5:178598844-178598845	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10079445	chr5:178598862-178598863	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs527853277	chr5:178598896-178598897	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552849419	chr5:178598916-178598917	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564396268	chr5:178598917-178598918	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373794979	chr5:178598939-178598940	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531597694	chr5:178598943-178598944	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188907159	chr5:178598991-178598992	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530438946	chr5:178598993-178598994	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178594000-178598400	Enhancers	Fetal Brain Male	brain
2	chr5:178594200-178599400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr5:178594600-178603400	Weak transcription	Fetal Lung	lung
4	chr5:178594800-178598800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:178594800-178598800	Weak transcription	NHLF	lung
6	chr5:178594800-178603400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:178594800-178606600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:178594800-178607000	Weak transcription	Ovary	ovary
9	chr5:178594800-178627600	Weak transcription	Right Atrium	heart
10	chr5:178595000-178606600	Weak transcription	NHDF-Ad	bronchial
11	chr5:178595400-178598200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:178596200-178599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:178596400-178599000	Enhancers	Fetal Muscle Leg	muscle
14	chr5:178596400-178601600	Weak transcription	Osteobl	bone
15	chr5:178596800-178598200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:178597000-178598000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:178597000-178598200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:178597000-178604600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:178597200-178598800	Enhancers	HSMMtube	muscle
20	chr5:178597400-178597800	Enhancers	Adipose Nuclei	Adipose
21	chr5:178597400-178597800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr5:178597400-178598000	Enhancers	Fetal Stomach	stomach
23	chr5:178597600-178597800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:178597600-178597800	Active TSS	Spleen	Spleen
25	chr5:178597600-178598000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:178597600-178598400	Enhancers	HSMM	muscle
27	chr5:178597600-178598600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:178597800-178599200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:178597800-178599200	Weak transcription	Spleen	Spleen
30	chr5:178597800-178599400	Weak transcription	Adipose Nuclei	Adipose
31	chr5:178598000-178598800	Weak transcription	Fetal Stomach	stomach
32	chr5:178598000-178602200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:178598000-178603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:178598200-178598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:178598200-178598800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:178598200-178599600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:178598400-178598800	Weak transcription	HSMM	muscle
38	chr5:178598400-178605200	Weak transcription	Fetal Brain Male	brain
39	chr5:178598600-178599200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:178598600-178602800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:178598800-178599000	Enhancers	Fetal Stomach	stomach
42	chr5:178598800-178599000	Enhancers	HSMM	muscle
43	chr5:178598800-178599200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:178598800-178599600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:178598800-178599800	Strong transcription	NHLF	lung
46	chr5:178598800-178603000	Weak transcription	HSMMtube	muscle
47	chr5:178599000-178604800	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:178599000-178606600	Weak transcription	HSMM	muscle
49	chr5:178599200-178599600	Active TSS	Spleen	Spleen
50	chr5:178599200-178599800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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