Variant report

Variant	esv1004067
Chromosome Location	chr7:61091869-61244970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2392 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2392 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373074334	chr7:61091873-61091874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562569797	chr7:61091874-61091875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145250356	chr7:61091887-61091888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192363354	chr7:61091892-61091893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376164102	chr7:61091897-61091898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574660029	chr7:61091898-61091899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372510844	chr7:61091899-61091900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541738636	chr7:61091915-61091916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111514982	chr7:61091920-61091921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4424205	chr7:61091931-61091932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527298882	chr7:61091938-61091939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180763440	chr7:61091945-61091946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201117170	chr7:61091950-61091951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551794729	chr7:61091951-61091952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564205258	chr7:61091969-61091970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372720521	chr7:61091974-61091975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4623353	chr7:61091981-61091982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575487429	chr7:61091987-61091988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544513531	chr7:61092000-61092001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557718935	chr7:61092001-61092002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536921534	chr7:61092004-61092005	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201926437	chr7:61092010-61092011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548900734	chr7:61092019-61092020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566834313	chr7:61092056-61092057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534176548	chr7:61092057-61092058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559042676	chr7:61092062-61092063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570905469	chr7:61092065-61092066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185329338	chr7:61092076-61092077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199891841	chr7:61092088-61092089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190087084	chr7:61092091-61092092	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537989414	chr7:61092102-61092103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374276491	chr7:61092104-61092105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184135712	chr7:61092109-61092110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148196776	chr7:61092130-61092131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541675937	chr7:61092157-61092158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553640773	chr7:61092163-61092164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112126381	chr7:61092171-61092172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554514554	chr7:61092184-61092185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188857065	chr7:61092190-61092191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139645191	chr7:61092196-61092197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531399061	chr7:61092197-61092198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62462112	chr7:61092228-61092229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62462113	chr7:61092234-61092235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191331431	chr7:61092237-61092238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182643713	chr7:61092242-61092243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563049869	chr7:61092250-61092251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530329557	chr7:61092274-61092275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150639745	chr7:61092279-61092280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376621902	chr7:61092291-61092292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62462114	chr7:61092305-61092306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61085400-61093200	Weak transcription	K562	blood
2	chr7:61087600-61098000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:61087800-61098000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:61088000-61092400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:61091400-61098000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr7:61091600-61092000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
7	chr7:61091800-61092000	ZNF genes & repeats	Colon Smooth Muscle	Colon
8	chr7:61091800-61092000	ZNF genes & repeats	HUVEC	blood vessel
9	chr7:61092200-61099600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:61093800-61097200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:61095400-61095600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
12	chr7:61095400-61095600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
13	chr7:61095400-61095600	ZNF genes & repeats	Fetal Lung	lung
14	chr7:61095400-61097000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:61096400-61097000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:61096600-61098000	ZNF genes & repeats	Liver	Liver
17	chr7:61097000-61099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:61097200-61097800	ZNF genes & repeats	Psoas Muscle	Psoas
19	chr7:61097400-61098000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr7:61097600-61098000	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr7:61097600-61098000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr7:61097800-61099200	Weak transcription	Psoas Muscle	Psoas
23	chr7:61098000-61099200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:61098000-61099400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:61098000-61099400	Weak transcription	Liver	Liver
26	chr7:61098000-61099400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:61098200-61099400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:61099200-61100400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:61099200-61100400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr7:61099200-61100400	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr7:61099200-61100400	ZNF genes & repeats	Thymus	Thymus
32	chr7:61099400-61100000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr7:61099400-61100200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr7:61099400-61100200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr7:61099400-61100400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr7:61099400-61100400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:61099400-61100400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:61099400-61100400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr7:61099400-61100400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:61099400-61100400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
41	chr7:61099400-61100400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr7:61099400-61100400	ZNF genes & repeats	Liver	Liver
43	chr7:61099400-61100400	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr7:61099400-61100400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
45	chr7:61099400-61100400	Bivalent/Poised TSS	Right Ventricle	heart
46	chr7:61099400-61100400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr7:61099600-61099800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:61099600-61099800	ZNF genes & repeats	Placenta	Placenta
49	chr7:61099600-61099800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr7:61099600-61099800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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