Variant report

Variant	esv3500340
Chromosome Location	chr7:129299408-129302495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129301627..129303933-chr7:129464656..129467241,2	K562	blood:
2	chr7:129298070..129300835-chr7:129464702..129466571,2	MCF-7	breast:
3	chr7:129300901..129303855-chr7:129648023..129650206,2	K562	blood:

Variant related genes	Relation type
ENSG00000244036	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79497918	chr7:129299459-129299460	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571765559	chr7:129299483-129299484	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542735693	chr7:129299495-129299496	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539237938	chr7:129299523-129299524	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554298925	chr7:129299525-129299526	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193199343	chr7:129299532-129299533	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566256872	chr7:129299564-129299565	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138234914	chr7:129299570-129299571	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554941182	chr7:129299571-129299572	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6953077	chr7:129299662-129299663	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116170192	chr7:129299678-129299679	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558279464	chr7:129299705-129299706	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576485727	chr7:129299814-129299815	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6957596	chr7:129299890-129299891	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559465315	chr7:129299932-129299933	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548925470	chr7:129299942-129299943	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529966853	chr7:129299994-129299995	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140471688	chr7:129300073-129300074	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563563164	chr7:129300078-129300079	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145687208	chr7:129300095-129300096	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138358003	chr7:129300142-129300143	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183818469	chr7:129300148-129300149	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571775755	chr7:129300172-129300173	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142540058	chr7:129300183-129300184	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189088533	chr7:129300274-129300275	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191234366	chr7:129300327-129300328	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536430582	chr7:129300330-129300331	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6958375	chr7:129300359-129300360	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138598105	chr7:129300423-129300424	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115204236	chr7:129300504-129300505	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6978476	chr7:129300522-129300523	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576546755	chr7:129300558-129300559	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148512317	chr7:129300594-129300595	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200472472	chr7:129300610-129300611	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149313743	chr7:129300622-129300623	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552772238	chr7:129300634-129300635	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201396133	chr7:129300643-129300644	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574614299	chr7:129300691-129300692	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183873367	chr7:129300713-129300714	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563577265	chr7:129300715-129300716	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530785651	chr7:129300774-129300775	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543851014	chr7:129300868-129300869	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376297641	chr7:129300873-129300874	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566597215	chr7:129300875-129300876	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532378267	chr7:129300942-129300943	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538634887	chr7:129300959-129300960	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9656382	chr7:129301007-129301008	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187039843	chr7:129301053-129301054	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530367916	chr7:129301068-129301069	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550328864	chr7:129301122-129301123	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129283800-129331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:129286600-129301600	Weak transcription	HSMMtube	muscle
3	chr7:129286800-129304400	Weak transcription	NHLF	lung
4	chr7:129287200-129301600	Weak transcription	Psoas Muscle	Psoas
5	chr7:129287800-129299600	Weak transcription	NH-A	brain
6	chr7:129289200-129314000	Weak transcription	Fetal Brain Male	brain
7	chr7:129290000-129299600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:129290000-129325800	Weak transcription	Stomach Mucosa	stomach
9	chr7:129290400-129304600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:129293600-129301600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:129293800-129311200	Weak transcription	Brain Anterior Caudate	brain
12	chr7:129293800-129311400	Weak transcription	Brain Angular Gyrus	brain
13	chr7:129294000-129300400	Weak transcription	Fetal Brain Female	brain
14	chr7:129296600-129299600	Strong transcription	Fetal Thymus	thymus
15	chr7:129296600-129301600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:129296800-129300600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:129296800-129300600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:129296800-129301400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:129297000-129299600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:129297000-129299600	Strong transcription	K562	blood
21	chr7:129297000-129300200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:129297000-129300200	Strong transcription	Primary T cells from cord blood	blood
23	chr7:129297000-129300200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:129297000-129300400	Strong transcription	Primary B cells from cord blood	blood
25	chr7:129297000-129300400	Strong transcription	Fetal Intestine Large	intestine
26	chr7:129297000-129300400	Strong transcription	Placenta	Placenta
27	chr7:129297000-129300600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:129297000-129300800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr7:129297000-129301000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr7:129297000-129301000	Strong transcription	Osteobl	bone
31	chr7:129297000-129301600	Strong transcription	Fetal Lung	lung
32	chr7:129297000-129301600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:129297000-129302200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:129297000-129302200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:129297000-129302200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:129297200-129299800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr7:129297200-129299800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:129297200-129299800	Strong transcription	Colon Smooth Muscle	Colon
39	chr7:129297200-129299800	Strong transcription	Fetal Intestine Small	intestine
40	chr7:129297200-129300000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:129297200-129300000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr7:129297200-129300000	Strong transcription	Hela-S3	cervix
43	chr7:129297200-129300400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:129297200-129300400	Strong transcription	Fetal Stomach	stomach
45	chr7:129297200-129300600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:129297200-129300600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:129297200-129300800	Strong transcription	Liver	Liver
48	chr7:129297200-129300800	Strong transcription	HepG2	liver
49	chr7:129297200-129301000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:129297200-129301400	Strong transcription	Ovary	ovary

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