Variant report

Variant	nsv888115
Chromosome Location	chr7:61196668-61736882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:61552820..61553340-chr9:66795352..66795871,2	MCF-7	breast:
2	chr7:61552820..61553340-chr7:62284727..62285248,3	MCF-7	breast:
3	chr7:61552820..61553340-chr8:46850618..46851139,4	MCF-7	breast:
4	chr7:61552820..61553340-chr9:66822994..66823521,2	MCF-7	breast:

Extended variants
information (count: 4564 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4564 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78805980	chr7:61198018-61198019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370648955	chr7:61198065-61198066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs199699176	chr7:61198093-61198094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs367914764	chr7:61198107-61198108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77586590	chr7:61198114-61198115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs372137377	chr7:61198119-61198120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs62451300	chr7:61198130-61198131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs375741056	chr7:61198139-61198140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs373669481	chr7:61198180-61198181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190175646	chr7:61211441-61211442	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs180747457	chr7:61211468-61211469	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185097980	chr7:61211471-61211472	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201322114	chr7:61211501-61211502	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs201934551	chr7:61211505-61211506	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62451851	chr7:61211530-61211531	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200544795	chr7:61211533-61211534	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201620453	chr7:61211536-61211537	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs199740448	chr7:61211537-61211538	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200689133	chr7:61211549-61211550	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201052664	chr7:61211573-61211574	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190727736	chr7:61211584-61211585	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183818613	chr7:61211589-61211590	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189534070	chr7:61211612-61211613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs374713249	chr7:61211619-61211620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111823895	chr7:61211620-61211621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200610330	chr7:61211642-61211643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201404652	chr7:61211652-61211653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368884945	chr7:61211660-61211661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs199990352	chr7:61211709-61211710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371857982	chr7:61211754-61211755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147329067	chr7:61211770-61211771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs541276556	chr7:61240806-61240807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113277467	chr7:61240810-61240811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs28834985	chr7:61240817-61240818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs28846427	chr7:61240818-61240819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200670540	chr7:61240838-61240839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs71250406	chr7:61240869-61240870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs9801116	chr7:61240880-61240881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs4557641	chr7:61240881-61240882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs28784052	chr7:61240885-61240886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs199729714	chr7:61240900-61240901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs578204920	chr7:61240901-61240902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs9801270	chr7:61240906-61240907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4870594	chr7:61240912-61240913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201847480	chr7:61240914-61240915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199949537	chr7:61240928-61240929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs9801347	chr7:61240934-61240935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200751777	chr7:61240940-61240941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201683524	chr7:61240948-61240949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs28869232	chr7:61240952-61240953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Glioblastoma	21080181	CNVD
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61198000-61198200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:61198000-61198200	ZNF genes & repeats	Brain Angular Gyrus	brain
3	chr7:61198000-61198200	ZNF genes & repeats	Brain Anterior Caudate	brain
4	chr7:61198000-61198200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
5	chr7:61198000-61198200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
6	chr7:61198000-61198200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:61198000-61198200	ZNF genes & repeats	Brain Substantia Nigra	brain
8	chr7:61211400-61211600	Enhancers	HSMMtube	muscle
9	chr7:61211400-61211800	ZNF genes & repeats	NH-A	brain
10	chr7:61240800-61241200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr7:61241600-61242400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr7:61242200-61244000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:61242200-61244000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr7:61242800-61244000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr7:61243000-61243200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:61243400-61244000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr7:61243800-61244000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr7:61243800-61244000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:61243800-61244000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
20	chr7:61243800-61244000	ZNF genes & repeats	Fetal Brain Male	brain
21	chr7:61243800-61244000	Enhancers	Fetal Kidney	kidney
22	chr7:61244000-61246000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:61246000-61246200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
24	chr7:61382400-61382600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr7:61510400-61510800	ZNF genes & repeats	Psoas Muscle	Psoas
26	chr7:61510400-61515200	ZNF genes & repeats	Liver	Liver
27	chr7:61510600-61515000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:61510800-61516800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr7:61511000-61514600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr7:61511800-61515200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr7:61513200-61514400	ZNF genes & repeats	Fetal Heart	heart
32	chr7:61515000-61515400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:61515000-61515400	ZNF genes & repeats	HUVEC	blood vessel
34	chr7:61515400-61519200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:61517000-61524800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:61519200-61519600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:61519200-61519600	ZNF genes & repeats	HUVEC	blood vessel
38	chr7:61519200-61519600	Bivalent Enhancer	K562	blood
39	chr7:61522600-61525200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr7:61528000-61529600	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr7:61528400-61531600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr7:61528400-61531600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr7:61528600-61529000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr7:61528600-61529000	Active TSS	Aorta	Aorta
45	chr7:61528600-61529000	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr7:61528600-61531400	ZNF genes & repeats	Liver	Liver
47	chr7:61528800-61531600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:61534600-61560200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr7:61534800-61535200	Active TSS	Fetal Heart	heart
50	chr7:61534800-61535400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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