Variant report

Variant	nsv1027532
Chromosome Location	chr7:67261526-67387398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:67337282..67339045-chr7:67340609..67342473,2	K562	blood:
2	chr7:67256752..67259174-chr7:67261560..67263097,2	K562	blood:
3	chr7:67337282..67339045-chr7:67340609..67342473,2	K562	blood:
4	chr1:53253415..53254229-chr7:67357747..67358247,2	K562	blood:

Extended variants
information (count: 2133 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2133 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10279927	chr7:67261526-67261527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543708662	chr7:67261543-67261544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563680802	chr7:67261547-67261548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183567145	chr7:67261577-67261578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146760439	chr7:67262607-67262608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544288403	chr7:67262645-67262646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140325068	chr7:67262675-67262676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150350510	chr7:67262699-67262700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540530440	chr7:67262734-67262735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182038139	chr7:67262756-67262757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1564596	chr7:67262760-67262761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149481360	chr7:67262782-67262783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552122409	chr7:67262787-67262788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559062756	chr7:67262812-67262813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530935690	chr7:67262816-67262817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550616115	chr7:67262823-67262824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79499728	chr7:67262846-67262847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143103716	chr7:67262890-67262891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573714061	chr7:67262905-67262906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187067029	chr7:67262916-67262917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190547132	chr7:67262999-67263000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182029128	chr7:67263016-67263017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113615707	chr7:67263025-67263026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544325586	chr7:67263059-67263060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115955560	chr7:67263084-67263085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142717028	chr7:67263142-67263143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113201237	chr7:67263145-67263146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185265909	chr7:67263181-67263182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369922375	chr7:67263187-67263188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4313042	chr7:67263216-67263217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190021262	chr7:67263232-67263233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4516996	chr7:67263239-67263240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531364037	chr7:67263284-67263285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547974943	chr7:67263308-67263309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561096148	chr7:67263360-67263361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530185856	chr7:67263411-67263412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147527691	chr7:67263435-67263436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544641274	chr7:67263521-67263522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181080899	chr7:67263528-67263529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186583278	chr7:67263531-67263532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564520423	chr7:67263532-67263533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79416723	chr7:67263535-67263536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569481979	chr7:67263536-67263537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140215795	chr7:67263547-67263548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571852986	chr7:67263566-67263567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75155478	chr7:67263579-67263580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4718622	chr7:67263593-67263594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs4236216	chr7:67263620-67263621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576727891	chr7:67263626-67263627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150670023	chr7:67263643-67263644	Enhancers	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
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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:67258600-67261600	Enhancers	Stomach Smooth Muscle	stomach
2	chr7:67262600-67265000	Enhancers	Adipose Nuclei	Adipose
3	chr7:67267000-67267200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:67268000-67268200	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr7:67270800-67271000	Enhancers	Ovary	ovary
6	chr7:67270800-67272200	Enhancers	HepG2	liver
7	chr7:67272000-67273600	Enhancers	Adipose Nuclei	Adipose
8	chr7:67272400-67272800	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:67272600-67273000	Enhancers	Fetal Muscle Leg	muscle
10	chr7:67272600-67273000	Enhancers	Ovary	ovary
11	chr7:67273200-67273600	Enhancers	Ovary	ovary
12	chr7:67274600-67274800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:67278600-67278800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:67280400-67281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:67281000-67281400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:67281200-67281400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:67285800-67287000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:67285800-67287200	Enhancers	NHEK	skin
19	chr7:67285800-67289000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:67286000-67286200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:67286000-67287200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:67286000-67287600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:67286000-67289000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:67286400-67287600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:67287000-67288200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:67287200-67288000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:67287200-67288000	Weak transcription	NHEK	skin
28	chr7:67287600-67288000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:67287600-67288800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:67288000-67289000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:67288000-67289000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:67288000-67289000	Enhancers	NHEK	skin
33	chr7:67288200-67289000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:67288400-67288800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:67288400-67289000	Enhancers	Fetal Lung	lung
36	chr7:67288600-67289000	Enhancers	Fetal Brain Male	brain
37	chr7:67289000-67290400	Weak transcription	Fetal Brain Male	brain
38	chr7:67290400-67291000	Enhancers	Fetal Brain Male	brain
39	chr7:67290600-67291800	Enhancers	Fetal Brain Female	brain
40	chr7:67291600-67292000	Enhancers	Liver	Liver
41	chr7:67307600-67308800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:67307800-67308400	Active TSS	Stomach Smooth Muscle	stomach
43	chr7:67307800-67309200	Enhancers	Fetal Brain Male	brain
44	chr7:67308000-67308800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:67308000-67309000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:67308400-67308600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr7:67308600-67309000	Enhancers	Stomach Smooth Muscle	stomach
48	chr7:67308800-67309000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:67309000-67312200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:67311200-67313200	Enhancers	Brain Germinal Matrix	brain

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