Variant report

Variant	esv3395311
Chromosome Location	chr8:121680996-121683019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121676047..121678791-chr8:121679807..121682137,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540410334	chr8:121681006-121681007	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs374430477	chr8:121681060-121681061	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs34510632	chr8:121681147-121681148	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138854778	chr8:121681163-121681164	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561566010	chr8:121681169-121681170	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565747608	chr8:121681250-121681251	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189108405	chr8:121681300-121681301	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567241079	chr8:121681309-121681310	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4871092	chr8:121681314-121681315	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557669059	chr8:121681330-121681331	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547294207	chr8:121681334-121681335	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs142087484	chr8:121681372-121681373	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145702926	chr8:121681376-121681377	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs34477376	chr8:121681386-121681387	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573365433	chr8:121681463-121681464	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs148074460	chr8:121681533-121681534	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562069977	chr8:121681536-121681537	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs4871093	chr8:121681577-121681578	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117954277	chr8:121681666-121681667	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201321178	chr8:121681686-121681687	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199955630	chr8:121681687-121681688	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111777108	chr8:121681700-121681701	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551441188	chr8:121681707-121681708	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569660074	chr8:121681766-121681767	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200881463	chr8:121681796-121681797	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537177341	chr8:121681841-121681842	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562439881	chr8:121681849-121681850	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533001994	chr8:121681859-121681860	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371897612	chr8:121681860-121681861	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60106564	chr8:121681894-121681895	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549074720	chr8:121681928-121681929	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533015156	chr8:121681943-121681944	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200159145	chr8:121681951-121681952	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192417370	chr8:121681978-121681979	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183778174	chr8:121681984-121681985	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527518382	chr8:121681988-121681989	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549038782	chr8:121681989-121681990	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567401980	chr8:121681990-121681991	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531320839	chr8:121681991-121681992	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549847018	chr8:121682028-121682029	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116562434	chr8:121682066-121682067	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368150724	chr8:121682087-121682088	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188136944	chr8:121682095-121682096	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567025540	chr8:121682101-121682102	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76847677	chr8:121682157-121682158	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370137236	chr8:121682266-121682267	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373771151	chr8:121682287-121682288	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534163925	chr8:121682303-121682304	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113650627	chr8:121682384-121682385	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150684187	chr8:121682420-121682421	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121663000-121681200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:121663600-121685000	Weak transcription	Aorta	Aorta
3	chr8:121667400-121681000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:121667400-121690200	Weak transcription	Fetal Stomach	stomach
5	chr8:121672600-121690400	Weak transcription	Fetal Kidney	kidney
6	chr8:121672600-121699600	Weak transcription	HSMM	muscle
7	chr8:121673200-121684800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:121674200-121681000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:121678000-121681400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:121678000-121685400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:121678400-121683000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr8:121679000-121684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:121679000-121685800	Weak transcription	Psoas Muscle	Psoas
14	chr8:121679200-121685000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:121679200-121685000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:121679200-121686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:121679400-121681400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:121679600-121684800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:121679600-121685000	Weak transcription	Lung	lung
20	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
21	chr8:121680000-121681200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:121680000-121681600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:121680000-121682400	Strong transcription	Liver	Liver
24	chr8:121680000-121683200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:121680000-121684000	Strong transcription	Primary T cells from cord blood	blood
26	chr8:121680200-121681200	Enhancers	NHLF	lung
27	chr8:121680200-121682200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:121680200-121682600	Enhancers	NHDF-Ad	bronchial
29	chr8:121680400-121681600	Enhancers	HSMMtube	muscle
30	chr8:121680400-121681600	Enhancers	Osteobl	bone
31	chr8:121680600-121681600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:121680600-121682400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:121680600-121683000	Strong transcription	HepG2	liver
34	chr8:121680600-121685200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:121680600-121697600	Weak transcription	Gastric	stomach
36	chr8:121680600-121704600	Weak transcription	Fetal Intestine Large	intestine
37	chr8:121680800-121681200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:121680800-121681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:121680800-121681600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr8:121680800-121701000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:121681000-121681400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:121681000-121681400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:121681000-121682200	Weak transcription	Primary B cells from cord blood	blood
44	chr8:121681000-121682200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:121681200-121681400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:121681200-121681400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:121681200-121681400	Enhancers	Fetal Muscle Leg	muscle
48	chr8:121681200-121681600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:121681200-121681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:121681200-121681600	Weak transcription	NHLF	lung

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