Variant report

Variant	nsv819922
Chromosome Location	chr7:5642878-5647466
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:11)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:139780524..139781304-chr7:5645746..5646589,2	NB4	blood:
2	chr7:5562685..5565302-chr7:5645935..5647635,2	MCF-7	breast:
3	chr7:5602894..5603824-chr7:5647233..5648027,2	K562	blood:
4	chr7:5630892..5633820-chr7:5645998..5647917,2	MCF-7	breast:
5	chr7:5645477..5648196-chr7:5732391..5735372,2	K562	blood:
6	chr7:5644809..5647806-chr7:5648776..5650378,2	MCF-7	breast:
7	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
8	chr7:5640719..5643074-chr7:5645927..5648207,2	MCF-7	breast:

No data

(count:11 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FSCN1	hsa-miR-133a-3p	chr7:5645850-5645856
2	FSCN1	hsa-miR-145-5p	chr7:5645482-5645489
3	FSCN1	hsa-miR-133b	chr7:5645835-5645856
4	FSCN1	hsa-miR-145-5p	chr7:5645221-5645228
5	FSCN1	hsa-miR-145-5p	chr7:5646245-5646252
6	FSCN1	hsa-miR-145-5p	chr7:5645467-5645489
7	FSCN1	hsa-miR-145-5p	chr7:5645834-5645840
8	FSCN1	hsa-miR-145-5p	chr7:5645206-5645228
9	FSCN1	hsa-miR-133b	chr7:5645850-5645856
10	FSCN1	hsa-miR-133a-3p	chr7:5645835-5645856
11	FSCN1	hsa-miR-145-5p	chr7:5646230-5646252

Variant related genes	Relation type
ENSG00000075624	chromatin interactions
ENSG00000249637	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000263900	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139675041	chr7:5642882-5642883	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369636565	chr7:5642885-5642886	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373614334	chr7:5642913-5642914	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113330783	chr7:5642920-5642921	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201645418	chr7:5642923-5642924	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147410388	chr7:5642949-5642950	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373803657	chr7:5642950-5642951	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535034843	chr7:5642953-5642954	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73052796	chr7:5642979-5642980	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111761155	chr7:5642987-5642988	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143738037	chr7:5643002-5643003	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150576558	chr7:5643008-5643009	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11557822	chr7:5643015-5643016	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374500646	chr7:5643033-5643034	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs193001737	chr7:5643051-5643052	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs200736047	chr7:5643056-5643057	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs561836811	chr7:5643059-5643060	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs573612458	chr7:5643069-5643070	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs201909136	chr7:5643071-5643072	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs374138413	chr7:5643072-5643073	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs199969674	chr7:5643073-5643074	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs559133408	chr7:5643099-5643100	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs372102668	chr7:5643100-5643101	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs201921858	chr7:5643109-5643110	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs201344792	chr7:5643115-5643116	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs369111423	chr7:5643118-5643119	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs184652662	chr7:5643124-5643125	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs1640233	chr7:5643145-5643146	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377275041	chr7:5643159-5643160	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs186765948	chr7:5643167-5643168	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs148787065	chr7:5643229-5643230	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs563571642	chr7:5643235-5643236	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs547060063	chr7:5643254-5643255	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs200275119	chr7:5643259-5643260	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs538623964	chr7:5643260-5643261	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs202010035	chr7:5643267-5643268	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs11974907	chr7:5643278-5643279	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs201924774	chr7:5643295-5643296	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs536457091	chr7:5643333-5643334	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs554816825	chr7:5643343-5643344	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs560871028	chr7:5643345-5643346	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs573383277	chr7:5643361-5643362	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs540811058	chr7:5643369-5643370	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs77093946	chr7:5643371-5643372	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs577741871	chr7:5643372-5643373	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs111339357	chr7:5643390-5643391	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs35078148	chr7:5643391-5643392	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs546657700	chr7:5643427-5643428	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs113121892	chr7:5643434-5643435	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs201372353	chr7:5643446-5643447	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5636200-5662000	Weak transcription	Fetal Kidney	kidney
2	chr7:5636600-5643400	Weak transcription	Pancreas	Pancrea
3	chr7:5636600-5661400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:5636800-5643200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:5636800-5661200	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:5638400-5648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:5638400-5659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:5638600-5643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:5638800-5643000	Weak transcription	Fetal Lung	lung
10	chr7:5638800-5643000	Weak transcription	Right Ventricle	heart
11	chr7:5638800-5643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:5638800-5644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:5638800-5661200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
15	chr7:5639000-5643200	Weak transcription	Gastric	stomach
16	chr7:5639000-5643200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr7:5639000-5655200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:5639000-5661200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:5639200-5643000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:5639200-5643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:5639200-5643000	Weak transcription	HSMMtube	muscle
22	chr7:5639200-5647600	Weak transcription	Stomach Mucosa	stomach
23	chr7:5639600-5645400	Strong transcription	Fetal Stomach	stomach
24	chr7:5639600-5648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:5639800-5643400	Weak transcription	Brain Substantia Nigra	brain
26	chr7:5641000-5643800	Strong transcription	K562	blood
27	chr7:5641000-5646000	Weak transcription	Fetal Brain Male	brain
28	chr7:5641200-5646400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:5641200-5648400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:5641400-5643200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:5641400-5646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:5641400-5646600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr7:5641600-5645000	Strong transcription	NHEK	skin
34	chr7:5641600-5645600	Strong transcription	Osteobl	bone
35	chr7:5641600-5659000	Weak transcription	Thymus	Thymus
36	chr7:5641800-5645200	Strong transcription	Brain Hippocampus Middle	brain
37	chr7:5641800-5648400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:5641800-5648600	Strong transcription	Fetal Intestine Small	intestine
39	chr7:5641800-5648600	Strong transcription	NHLF	lung
40	chr7:5642000-5643800	Strong transcription	NH-A	brain
41	chr7:5642000-5644800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:5642000-5645400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:5642000-5646000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:5642000-5646600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:5642000-5647000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:5642000-5648400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:5642000-5648400	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr7:5642000-5648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:5642000-5650600	Genic enhancers	Fetal Muscle Leg	muscle
50	chr7:5642200-5643400	Strong transcription	HSMM	muscle

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