Variant report

Variant	nsv607106
Chromosome Location	chr7:57923927-58054092
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	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
2	chr4:94030168..94030688-chr7:58043283..58043804,2	MCF-7	breast:

Extended variants
information (count: 15903 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:15903 , 50 per page) page: 1 2 3 4 5 6 7 ... 319

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567293835	chr7:57925000-57925001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs534675824	chr7:57925006-57925007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200219184	chr7:57925007-57925008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200857900	chr7:57925014-57925015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs34000428	chr7:57925016-57925017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538907226	chr7:57925032-57925033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372021041	chr7:57925056-57925057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145126525	chr7:57925071-57925072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs376954052	chr7:57925075-57925076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528394992	chr7:57925100-57925101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs76137767	chr7:57925127-57925128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200473908	chr7:57925142-57925143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112528635	chr7:57925153-57925154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs199504651	chr7:57925159-57925160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575251840	chr7:57925166-57925167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112826571	chr7:57925185-57925186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111638958	chr7:57925192-57925193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs57666938	chr7:57925193-57925194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372387176	chr7:57925218-57925219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201694557	chr7:57925237-57925238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370623963	chr7:57925243-57925244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183302471	chr7:57925264-57925265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572913661	chr7:57925270-57925271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78381490	chr7:57925297-57925298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540226153	chr7:57925298-57925299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565082340	chr7:57925307-57925308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200530816	chr7:57925340-57925341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532390093	chr7:57925358-57925359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555120338	chr7:57925361-57925362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568515728	chr7:57925383-57925384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544085761	chr7:57925392-57925393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs562669623	chr7:57925395-57925396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183477900	chr7:57925413-57925414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530930778	chr7:57925414-57925415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77307746	chr7:57925431-57925432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79242889	chr7:57925460-57925461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567404673	chr7:57925464-57925465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528506609	chr7:57925489-57925490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374035957	chr7:57925499-57925500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367945217	chr7:57925510-57925511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546584365	chr7:57925521-57925522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200846943	chr7:57925522-57925523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74795260	chr7:57925538-57925539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539276749	chr7:57925539-57925540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557284493	chr7:57925543-57925544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569465424	chr7:57925552-57925553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536828906	chr7:57925561-57925562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375151050	chr7:57925564-57925565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554747628	chr7:57925599-57925600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199920397	chr7:57925607-57925608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57925000-57925400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:57925400-57927000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:57927000-57927200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr7:57927000-57927600	Active TSS	Liver	Liver
5	chr7:57927000-57927800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr7:57927000-57928200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:57927400-57927800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
8	chr7:57927400-57929200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:57927600-57927800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:57927600-57927800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:57927600-57927800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:57927600-57927800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr7:57927600-57927800	Flanking Bivalent TSS/Enh	Liver	Liver
17	chr7:57927600-57927800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
18	chr7:57927600-57927800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:57927600-57927800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr7:57927600-57927800	Bivalent/Poised TSS	Left Ventricle	heart
21	chr7:57927600-57927800	Bivalent/Poised TSS	Right Atrium	heart
22	chr7:57927600-57927800	Bivalent/Poised TSS	Right Ventricle	heart
23	chr7:57927600-57927800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr7:57927600-57928000	Bivalent/Poised TSS	Aorta	Aorta
25	chr7:57927600-57928000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
26	chr7:57927600-57928200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr7:57927600-57928200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:57927600-57928200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr7:57927600-57928200	Flanking Bivalent TSS/Enh	HMEC	breast
30	chr7:57927600-57928400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
31	chr7:57927600-57928400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:57927600-57928400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
33	chr7:57927600-57928400	Flanking Bivalent TSS/Enh	Placenta	Placenta
34	chr7:57927600-57928600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
35	chr7:57927600-57928600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr7:57927600-57928600	ZNF genes & repeats	Spleen	Spleen
37	chr7:57927600-57928800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:57927600-57928800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr7:57927600-57928800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:57927600-57928800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr7:57927600-57928800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
42	chr7:57927600-57928800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:57927600-57928800	Active TSS	Rectal Smooth Muscle	rectum
44	chr7:57927600-57929000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:57927600-57929000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:57927600-57929000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:57927600-57929000	ZNF genes & repeats	Lung	lung
48	chr7:57927600-57929000	Bivalent/Poised TSS	Ovary	ovary
49	chr7:57927600-57929000	Active TSS	Pancreas	Pancrea
50	chr7:57927600-57929000	Active TSS	A549	lung

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