Variant report

Variant	esv3434296
Chromosome Location	chr1:174556344-174594264
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	chr1:174566765..174568988-chr1:174739021..174740535,2	K562	blood:
2	chr1:174585484..174588132-chr1:174595447..174597220,2	K562	blood:

Extended variants
information (count: 1727 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1727 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539086217	chr1:174556348-174556349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12132404	chr1:174556362-174556363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374316292	chr1:174556382-174556383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35730233	chr1:174556389-174556390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186797364	chr1:174556479-174556480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541938009	chr1:174556521-174556522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55659406	chr1:174556523-174556524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7548573	chr1:174556524-174556525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377084269	chr1:174556531-174556532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530646334	chr1:174556588-174556589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552704784	chr1:174556593-174556594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398053546	chr1:174556613-174556614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202022029	chr1:174556646-174556647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376970037	chr1:174556782-174556783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142410559	chr1:174556812-174556813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564245138	chr1:174556816-174556817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56357087	chr1:174556839-174556840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191580105	chr1:174556862-174556863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183150755	chr1:174556871-174556872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531587150	chr1:174556903-174556904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140883254	chr1:174556921-174556922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201546627	chr1:174556994-174556995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187080243	chr1:174557028-174557029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151292139	chr1:174557037-174557038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531829726	chr1:174557040-174557041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551926446	chr1:174557096-174557097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571875031	chr1:174557099-174557100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551746957	chr1:174557126-174557127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534491300	chr1:174557127-174557128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546660432	chr1:174557147-174557148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116402691	chr1:174557149-174557150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535398218	chr1:174557157-174557158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555516640	chr1:174557192-174557193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575270848	chr1:174557201-174557202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140510498	chr1:174557203-174557204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115803149	chr1:174557204-174557205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577897128	chr1:174557242-174557243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146558721	chr1:174557255-174557256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141212611	chr1:174557256-174557257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200045772	chr1:174557259-174557260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201055766	chr1:174557263-174557264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567996085	chr1:174557284-174557285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189666442	chr1:174557297-174557298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182297466	chr1:174557301-174557302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200054465	chr1:174557303-174557304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531813335	chr1:174557326-174557327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551722042	chr1:174557328-174557329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144934004	chr1:174557391-174557392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528023445	chr1:174557399-174557400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138762838	chr1:174557403-174557404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174546000-174573000	Weak transcription	Left Ventricle	heart
2	chr1:174546200-174556800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:174553600-174570200	Weak transcription	Gastric	stomach
4	chr1:174555000-174558600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:174555000-174558600	Weak transcription	GM12878-XiMat	blood
6	chr1:174555000-174574000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:174555000-174575000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:174565400-174565800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:174565400-174566000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:174565400-174566000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:174566400-174570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:174566800-174569800	Weak transcription	Primary T cells from cord blood	blood
13	chr1:174566800-174586600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:174568200-174572800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:174568400-174572400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:174568400-174572400	Weak transcription	Thymus	Thymus
17	chr1:174568400-174588800	Weak transcription	Esophagus	oesophagus
18	chr1:174568600-174574200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:174569000-174571600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:174569200-174572000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:174569800-174570000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:174569800-174570000	Weak transcription	Ovary	ovary
23	chr1:174569800-174570000	ZNF genes & repeats	Pancreas	Pancrea
24	chr1:174569800-174570200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:174569800-174570200	ZNF genes & repeats	Lung	lung
26	chr1:174569800-174570400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr1:174569800-174571200	Weak transcription	Adipose Nuclei	Adipose
28	chr1:174569800-174571400	Strong transcription	Primary T cells from cord blood	blood
29	chr1:174569800-174573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:174570000-174570200	ZNF genes & repeats	Ovary	ovary
31	chr1:174570000-174570400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:174570000-174572400	Weak transcription	Pancreas	Pancrea
33	chr1:174570200-174570400	ZNF genes & repeats	Gastric	stomach
34	chr1:174570200-174572400	Weak transcription	Ovary	ovary
35	chr1:174570200-174572600	Weak transcription	Lung	lung
36	chr1:174570400-174572400	Weak transcription	Fetal Stomach	stomach
37	chr1:174570400-174572400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:174570400-174575800	Weak transcription	Gastric	stomach
39	chr1:174570800-174572200	Weak transcription	Primary B cells from cord blood	blood
40	chr1:174570800-174572400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:174570800-174572400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:174570800-174572600	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:174570800-174572800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:174570800-174573000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:174571400-174571800	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr1:174571400-174571800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr1:174571400-174572600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr1:174571600-174572400	Weak transcription	Spleen	Spleen
49	chr1:174571600-174573200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:174571600-174574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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