Variant report

Variant	esv3340739
Chromosome Location	chr7:127602566-127607614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127599793..127602265-chr7:127606628..127609403,2	K562	blood:
2	chr7:127602148..127604261-chr7:127608585..127610354,2	K562	blood:
3	chr7:127599109..127601690-chr7:127601773..127604580,2	K562	blood:
4	chr7:127597262..127598889-chr7:127600616..127602859,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10487503	chr7:127602669-127602670	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574038885	chr7:127602713-127602714	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538136151	chr7:127602778-127602779	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556166921	chr7:127602797-127602798	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142409830	chr7:127602801-127602802	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191992210	chr7:127602828-127602829	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146838405	chr7:127602878-127602879	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572497928	chr7:127602947-127602948	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185013420	chr7:127602949-127602950	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563616296	chr7:127602963-127602964	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561849427	chr7:127602984-127602985	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140303699	chr7:127603025-127603026	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550913069	chr7:127603069-127603070	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75054414	chr7:127603084-127603085	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189641283	chr7:127603092-127603093	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548603428	chr7:127603134-127603135	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374156208	chr7:127603147-127603148	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551311429	chr7:127603166-127603167	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566496660	chr7:127603172-127603173	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377501263	chr7:127603275-127603276	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549203617	chr7:127603289-127603290	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567498365	chr7:127603290-127603291	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs56243600	chr7:127603306-127603307	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs398006198	chr7:127603318-127603319	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562031563	chr7:127603329-127603330	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144033659	chr7:127603339-127603340	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs59028558	chr7:127603353-127603354	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368412286	chr7:127603413-127603414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556596251	chr7:127603455-127603456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181170275	chr7:127603456-127603457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58549858	chr7:127603463-127603464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533080869	chr7:127603519-127603520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370073482	chr7:127603527-127603528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554125499	chr7:127603570-127603571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369218833	chr7:127603642-127603643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572481516	chr7:127603659-127603660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543121147	chr7:127603704-127603705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561336327	chr7:127603708-127603709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573894672	chr7:127603839-127603840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373357422	chr7:127603920-127603921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201012278	chr7:127604134-127604135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201991088	chr7:127604158-127604159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370603929	chr7:127604304-127604305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375420364	chr7:127604384-127604385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113308856	chr7:127604443-127604444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368358352	chr7:127604454-127604455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62481452	chr7:127604530-127604531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1193330	chr7:127604784-127604785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111980119	chr7:127604861-127604862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113606566	chr7:127604865-127604866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Myxofibrosarcoma	20639860	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127569800-127615600	Weak transcription	Colonic Mucosa	Colon
2	chr7:127570600-127615600	Weak transcription	Small Intestine	intestine
3	chr7:127570600-127615800	Weak transcription	Esophagus	oesophagus
4	chr7:127570600-127616400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:127571000-127615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:127571000-127615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:127571800-127602800	Weak transcription	Aorta	Aorta
11	chr7:127576400-127607000	Weak transcription	Spleen	Spleen
12	chr7:127576400-127615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:127578200-127616200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:127581200-127615400	Weak transcription	Gastric	stomach
15	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:127584200-127607000	Weak transcription	Right Ventricle	heart
17	chr7:127584600-127607000	Weak transcription	Left Ventricle	heart
18	chr7:127584600-127607000	Weak transcription	Lung	lung
19	chr7:127584600-127609000	Weak transcription	Pancreas	Pancrea
20	chr7:127584600-127612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
22	chr7:127585000-127607000	Weak transcription	HSMMtube	muscle
23	chr7:127585200-127607200	Weak transcription	Psoas Muscle	Psoas
24	chr7:127585200-127616400	Weak transcription	Thymus	Thymus
25	chr7:127585200-127616600	Weak transcription	A549	lung
26	chr7:127587200-127603200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:127587400-127618000	Weak transcription	NHLF	lung
28	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
29	chr7:127590200-127604800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:127590800-127607400	Weak transcription	Ovary	ovary
31	chr7:127591600-127613600	Weak transcription	Fetal Brain Male	brain
32	chr7:127592400-127603400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:127593600-127603000	Strong transcription	Liver	Liver
34	chr7:127593800-127603000	Strong transcription	Primary T cells from cord blood	blood
35	chr7:127594000-127615600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:127594200-127608000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:127594400-127602800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:127594400-127616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:127594400-127618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:127594600-127602600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:127594600-127608600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:127594600-127608800	Weak transcription	Fetal Kidney	kidney
44	chr7:127594600-127608800	Weak transcription	NH-A	brain
45	chr7:127594600-127618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:127594800-127609800	Weak transcription	HUVEC	blood vessel
47	chr7:127595000-127613200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:127595200-127602600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:127595200-127607000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:127595200-127607200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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