Variant report

Variant	nsv971176
Chromosome Location	chr7:80256084-80258828
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	chr7:80254055..80256546-chr7:80258500..80261458,2	K562	blood:

Variant related genes	Relation type
ENSG00000135218	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560625366	chr7:80256114-80256115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574289017	chr7:80256120-80256121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115664630	chr7:80256151-80256152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202151165	chr7:80256153-80256154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548719846	chr7:80256165-80256166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189117578	chr7:80256194-80256195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1334514	chr7:80256215-80256216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181458367	chr7:80256229-80256230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186406364	chr7:80256242-80256243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12534733	chr7:80256255-80256256	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533760707	chr7:80256276-80256277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554002766	chr7:80256287-80256288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567462767	chr7:80256288-80256289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574208802	chr7:80256297-80256298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112787258	chr7:80256327-80256328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576333982	chr7:80256340-80256341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189191664	chr7:80256345-80256346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113115387	chr7:80256406-80256407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575754295	chr7:80256432-80256433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142797809	chr7:80256484-80256485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544707999	chr7:80256519-80256520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146611694	chr7:80256579-80256580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543156801	chr7:80256625-80256626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112614010	chr7:80256633-80256634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540492335	chr7:80256641-80256642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549020107	chr7:80256642-80256643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113749074	chr7:80256709-80256710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560804188	chr7:80256720-80256721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574235926	chr7:80256728-80256729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs41364549	chr7:80256738-80256739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79728625	chr7:80256755-80256756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138778417	chr7:80256759-80256760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551024804	chr7:80256778-80256779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74791230	chr7:80256780-80256781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564836662	chr7:80256812-80256813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180945653	chr7:80256834-80256835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527444043	chr7:80256869-80256870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547256647	chr7:80256875-80256876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17154186	chr7:80256889-80256890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78898202	chr7:80256908-80256909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550138463	chr7:80256942-80256943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553672243	chr7:80256943-80256944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569234122	chr7:80256945-80256946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538246364	chr7:80256954-80256955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558256057	chr7:80256984-80256985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578045649	chr7:80257001-80257002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12706916	chr7:80257032-80257033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541128767	chr7:80257038-80257039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566937205	chr7:80257055-80257056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554052239	chr7:80257069-80257070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80251800-80260000	Weak transcription	Right Ventricle	heart
2	chr7:80252000-80260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:80253400-80256200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:80253400-80256200	Weak transcription	NHDF-Ad	bronchial
5	chr7:80253400-80259400	Weak transcription	Fetal Lung	lung
6	chr7:80253600-80256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:80253600-80256200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:80253600-80256200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:80254200-80257000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:80254400-80258000	Weak transcription	Psoas Muscle	Psoas
11	chr7:80254800-80259400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:80254800-80259600	Weak transcription	HepG2	liver
13	chr7:80255400-80259800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:80255400-80260000	Weak transcription	Right Atrium	heart
15	chr7:80255600-80258000	Weak transcription	Left Ventricle	heart
16	chr7:80255600-80258000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:80255600-80260200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:80255800-80256200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:80255800-80261800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:80256000-80256400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:80256000-80256400	Enhancers	Adipose Nuclei	Adipose
22	chr7:80256000-80256600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:80256000-80257000	Enhancers	Fetal Heart	heart
24	chr7:80256200-80256400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:80256200-80256400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:80256200-80256800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:80256200-80256800	Enhancers	NHDF-Ad	bronchial
28	chr7:80256200-80257000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:80256200-80257400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:80256400-80257400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:80256400-80258400	Weak transcription	Adipose Nuclei	Adipose
32	chr7:80256400-80261600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:80256600-80257000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:80256800-80259600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:80256800-80260000	Weak transcription	NHDF-Ad	bronchial
36	chr7:80257000-80258000	Weak transcription	Fetal Heart	heart
37	chr7:80257000-80259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:80257000-80259400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:80257000-80259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:80257400-80258600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:80257400-80259800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:80257800-80259000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:80257800-80260400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:80258000-80258400	Active TSS	Left Ventricle	heart
45	chr7:80258000-80258600	Enhancers	Psoas Muscle	Psoas
46	chr7:80258000-80258800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:80258000-80262800	Enhancers	Fetal Heart	heart
48	chr7:80258400-80258600	Flanking Active TSS	Left Ventricle	heart
49	chr7:80258400-80260000	Enhancers	Adipose Nuclei	Adipose
50	chr7:80258600-80259400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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