Variant report

Variant	nsv883204
Chromosome Location	chr5:177684682-177744380
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:68)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:177723976..177725542-chr5:178052631..178055035,2	K562	blood:
2	chr5:177710796..177711682-chr5:178266072..178266614,2	K562	blood:
3	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
4	chr5:177706663..177708953-chr5:178261165..178263624,2	MCF-7	breast:
5	chr5:177706688..177707297-chr5:177977028..177977867,2	MCF-7	breast:
6	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
7	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
8	chr5:177736569..177737099-chr5:177978277..177978783,2	MCF-7	breast:
9	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
10	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
11	chr5:177706637..177707790-chr5:178017212..178018303,12	K562	blood:
12	chr5:177700241..177704563-chr5:177705321..177708218,5	MCF-7	breast:
13	chr5:177711262..177713126-chr5:177716170..177718163,3	K562	blood:
14	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
15	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
16	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:
17	chr5:177695402..177698313-chr5:177774135..177775779,2	K562	blood:
18	chr5:177663359..177666352-chr5:177692543..177695366,2	K562	blood:
19	chr5:177711262..177713126-chr5:177716170..177718163,3	K562	blood:
20	chr5:177662161..177662775-chr5:177732667..177733658,2	MCF-7	breast:
21	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
22	chr5:177682641..177685103-chr5:177687845..177689639,2	K562	blood:
23	chr5:177714990..177717211-chr5:177717437..177719265,2	MCF-7	breast:
24	chr5:177722533..177724102-chr5:177775070..177777242,2	K562	blood:
25	chr5:177631158..177632989-chr5:177704368..177706626,2	MCF-7	breast:
26	chr5:177687306..177690029-chr5:177710452..177712944,2	MCF-7	breast:
27	chr5:177705531..177707369-chr5:177709194..177711179,2	K562	blood:
28	chr5:177666154..177668382-chr5:177684774..177687012,2	MCF-7	breast:
29	chr5:177711262..177713782-chr5:177716663..177718349,2	K562	blood:
30	chr5:177706726..177707270-chr5:178157310..178157911,2	MCF-7	breast:
31	chr5:177705017..177707369-chr5:177709194..177712378,3	K562	blood:
32	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
33	chr5:177698904..177700407-chr5:177706155..177707702,2	K562	blood:
34	chr5:177675640..177677996-chr5:177730945..177733479,2	K562	blood:
35	chr5:177712048..177714602-chr5:177804410..177806425,2	MCF-7	breast:
36	chr5:177710809..177711655-chr5:177978098..177978611,2	MCF-7	breast:
37	chr5:177623727..177624647-chr5:177706685..177707211,2	K562	blood:
38	chr5:177714990..177717211-chr5:177717437..177719265,2	MCF-7	breast:
39	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
40	chr5:177682641..177685103-chr5:177687845..177689639,2	K562	blood:
41	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
42	chr5:177711262..177713782-chr5:177716663..177718349,2	K562	blood:
43	chr5:177674781..177677713-chr5:177688724..177690382,2	MCF-7	breast:
44	chr5:177706712..177707519-chr5:178016864..178017694,3	MCF-7	breast:
45	chr5:177732771..177735579-chr5:177738101..177740737,3	K562	blood:
46	chr5:177707050..177707576-chr5:177733039..177733583,2	MCF-7	breast:
47	chr5:177731199..177733626-chr5:177734789..177737506,2	MCF-7	breast:
48	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
49	chr5:177712144..177714829-chr5:177719190..177721304,2	MCF-7	breast:
50	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175309	chromatin interactions
ENSG00000169131	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000242341	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000113240	chromatin interactions
ENSG00000050767	chromatin interactions

Extended variants
information (count: 2806 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2806 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2913847	chr5:177684682-177684683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533453681	chr5:177684683-177684684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77831884	chr5:177684685-177684686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550457611	chr5:177684730-177684731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554190079	chr5:177684732-177684733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187160680	chr5:177684744-177684745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549662099	chr5:177684776-177684777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567968874	chr5:177684781-177684782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535033619	chr5:177684817-177684818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547154099	chr5:177684939-177684940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571787660	chr5:177684940-177684941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13176381	chr5:177685005-177685006	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535622202	chr5:177685019-177685020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574854000	chr5:177685041-177685042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535861715	chr5:177685076-177685077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71585685	chr5:177685094-177685095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531745757	chr5:177685153-177685154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554415163	chr5:177685180-177685181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554257696	chr5:177685223-177685224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375482710	chr5:177685238-177685239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556571413	chr5:177685239-177685240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371097344	chr5:177685247-177685248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199949549	chr5:177685249-177685250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs70994992	chr5:177685255-177685256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116466709	chr5:177685260-177685261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191259858	chr5:177685261-177685262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112891585	chr5:177685263-177685264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540194556	chr5:177685289-177685290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13166129	chr5:177685293-177685294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565082905	chr5:177685294-177685295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13161482	chr5:177685295-177685296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560019770	chr5:177685396-177685397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201880361	chr5:177685408-177685409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59750946	chr5:177685412-177685413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373851731	chr5:177685436-177685437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386695430	chr5:177685437-177685438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560134845	chr5:177685444-177685445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545474383	chr5:177685458-177685459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182286340	chr5:177685497-177685498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530896494	chr5:177685545-177685546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549373098	chr5:177685546-177685547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561157244	chr5:177685558-177685559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35229440	chr5:177685559-177685560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528772849	chr5:177685586-177685587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547024981	chr5:177685597-177685598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187698318	chr5:177685611-177685612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148659840	chr5:177685617-177685618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550227546	chr5:177685618-177685619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568634647	chr5:177685631-177685632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535970871	chr5:177685632-177685633	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177669800-177699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:177674400-177689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:177677400-177688200	Weak transcription	Right Atrium	heart
4	chr5:177677600-177688600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:177679800-177684800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:177679800-177688800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:177682800-177688800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:177683000-177697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:177684400-177685000	Enhancers	Pancreas	Pancrea
10	chr5:177684600-177684800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:177684800-177685200	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:177684800-177688800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:177685000-177686400	Weak transcription	Pancreas	Pancrea
14	chr5:177686400-177687400	Enhancers	Pancreas	Pancrea
15	chr5:177686600-177688000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:177686800-177687600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr5:177687000-177687400	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:177687400-177688600	Weak transcription	Pancreas	Pancrea
19	chr5:177688600-177689400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:177688800-177689600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:177688800-177689600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:177688800-177689800	Enhancers	Placenta	Placenta
23	chr5:177688800-177690000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:177689000-177689200	Enhancers	Pancreas	Pancrea
25	chr5:177689400-177689600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:177689400-177698000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:177689600-177691400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:177691400-177691600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:177691600-177692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:177692200-177693000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:177693000-177694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:177693400-177695000	Enhancers	Fetal Heart	heart
33	chr5:177693600-177695400	Enhancers	Right Ventricle	heart
34	chr5:177693800-177694000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr5:177694000-177694400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr5:177694000-177695000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:177694000-177695200	Enhancers	Left Ventricle	heart
38	chr5:177694000-177696800	Weak transcription	Fetal Stomach	stomach
39	chr5:177694400-177694800	Enhancers	Fetal Muscle Leg	muscle
40	chr5:177694400-177694800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr5:177694400-177695000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr5:177694800-177695200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:177694800-177695200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:177695200-177698600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:177695400-177699200	Weak transcription	Right Ventricle	heart
46	chr5:177696600-177699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:177696800-177697200	ZNF genes & repeats	Fetal Stomach	stomach
48	chr5:177697200-177698400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:177697400-177698400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:177697800-177698200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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