Variant report

Variant	esv3443456
Chromosome Location	chr1:168440262-168441728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168431347..168434389-chr1:168437766..168440799,3	MCF-7	breast:
2	chr1:168430768..168433415-chr1:168437699..168440443,2	K562	blood:
3	chr1:168421286..168421816-chr1:168440181..168440707,2	K562	blood:
4	chr1:168434236..168435916-chr1:168440122..168441908,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544404615	chr1:168440262-168440263	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs185026614	chr1:168440285-168440286	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189836352	chr1:168440347-168440348	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs180990709	chr1:168440366-168440367	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs74911443	chr1:168440399-168440400	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564303517	chr1:168440427-168440428	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527294535	chr1:168440453-168440454	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542261053	chr1:168440462-168440463	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553263797	chr1:168440464-168440465	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560638403	chr1:168440467-168440468	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372650385	chr1:168440479-168440480	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186218174	chr1:168440485-168440486	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550083303	chr1:168440580-168440581	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571831746	chr1:168440581-168440582	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs56356646	chr1:168440647-168440648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536402125	chr1:168440670-168440671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191463433	chr1:168440679-168440680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566425991	chr1:168440681-168440682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531855531	chr1:168440694-168440695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541481796	chr1:168440695-168440696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536641343	chr1:168440704-168440705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555038316	chr1:168440755-168440756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57139415	chr1:168440756-168440757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570143197	chr1:168440765-168440766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183244598	chr1:168440779-168440780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556051823	chr1:168440783-168440784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577777244	chr1:168440786-168440787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111724318	chr1:168440788-168440789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567521337	chr1:168440807-168440808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201619591	chr1:168440822-168440823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59290575	chr1:168440836-168440837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs858093	chr1:168440851-168440852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572045766	chr1:168440854-168440855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542198076	chr1:168440863-168440864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560576441	chr1:168440867-168440868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369222006	chr1:168440891-168440892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61801292	chr1:168440979-168440980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373740539	chr1:168441188-168441189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529519689	chr1:168441190-168441191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373532298	chr1:168441192-168441193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377423867	chr1:168441194-168441195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376599519	chr1:168441214-168441215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36150167	chr1:168441216-168441217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74521239	chr1:168441221-168441222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78081491	chr1:168441228-168441229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565292073	chr1:168441232-168441233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370799544	chr1:168441242-168441243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370234573	chr1:168441245-168441246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190995574	chr1:168441246-168441247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374187922	chr1:168441256-168441257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	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
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
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168433800-168443400	Weak transcription	Liver	Liver
2	chr1:168434400-168443600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:168434800-168440800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:168435000-168440400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:168435000-168440600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:168435000-168440600	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:168435200-168440400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:168435200-168440400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:168435200-168440400	Enhancers	HSMM	muscle
10	chr1:168435200-168440600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:168435200-168440600	Enhancers	Colon Smooth Muscle	Colon
12	chr1:168435200-168440600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:168435200-168440600	Enhancers	HMEC	breast
14	chr1:168435200-168440600	Enhancers	NHEK	skin
15	chr1:168435200-168440800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:168435400-168440600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:168435800-168451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:168436400-168441400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:168436800-168440600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:168437000-168440600	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:168437000-168440800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:168437200-168440600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:168437200-168440600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:168437200-168440800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:168437400-168440600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:168437400-168440600	Enhancers	HepG2	liver
27	chr1:168437400-168440800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:168437600-168440600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:168437600-168440600	Enhancers	NHLF	lung
30	chr1:168437600-168440800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:168437800-168440400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:168437800-168440600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:168438600-168440600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:168438600-168440600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:168438800-168440400	Weak transcription	Fetal Kidney	kidney
36	chr1:168438800-168440600	Enhancers	Hela-S3	cervix
37	chr1:168438800-168440800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:168439200-168440400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:168439200-168440400	Weak transcription	Aorta	Aorta
40	chr1:168439200-168440400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:168439200-168440600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:168439200-168440600	Enhancers	A549	lung
43	chr1:168439200-168450200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:168439400-168440600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:168439400-168442600	Weak transcription	Fetal Intestine Large	intestine
46	chr1:168439400-168443400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:168439400-168443400	Weak transcription	Spleen	Spleen
48	chr1:168439400-168446200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:168439400-168451400	Weak transcription	Ovary	ovary
50	chr1:168439800-168440400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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