Variant report

Variant	esv3452568
Chromosome Location	chr1:168572126-168574379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:168572944..168574727-chr1:169074415..169077052,3	MCF-7	breast:
2	chr1:168408971..168409658-chr1:168572873..168573377,2	MCF-7	breast:
3	chr1:168572452..168573406-chr1:169319144..169320245,3	MCF-7	breast:
4	chr1:168572459..168573424-chr1:169317442..169318283,3	MCF-7	breast:
5	chr1:168572454..168573380-chr1:169317397..169317940,2	K562	blood:
6	chr1:168572527..168573028-chr1:168758579..168759392,2	MCF-7	breast:
7	chr1:168572840..168573443-chr1:169680986..169681557,2	MCF-7	breast:
8	chr1:168572596..168573422-chr1:169103197..169103848,3	MCF-7	breast:
9	chr1:168572487..168573340-chr1:169680905..169681683,2	K562	blood:
10	chr1:168572929..168574536-chr1:169075342..169076920,2	MCF-7	breast:
11	chr1:168572846..168573369-chr1:168606389..168607281,2	MCF-7	breast:
12	chr1:168572434..168572967-chr1:169515424..169516289,2	MCF-7	breast:
13	chr1:168572446..168573392-chr1:169317346..169318310,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143153	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190310183	chr1:168572196-168572197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558129063	chr1:168572240-168572241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566873314	chr1:168572241-168572242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534243021	chr1:168572244-168572245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555910337	chr1:168572261-168572262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12041293	chr1:168572297-168572298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183041562	chr1:168572313-168572314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144499328	chr1:168572334-168572335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146624835	chr1:168572354-168572355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545784241	chr1:168572367-168572368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141218591	chr1:168572388-168572389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567900090	chr1:168572402-168572403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115799774	chr1:168572427-168572428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187733545	chr1:168572443-168572444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192648963	chr1:168572445-168572446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528990097	chr1:168572457-168572458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551144562	chr1:168572458-168572459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562987027	chr1:168572480-168572481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78041120	chr1:168572503-168572504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551795744	chr1:168572520-168572521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571913713	chr1:168572523-168572524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541131453	chr1:168572604-168572605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115144747	chr1:168572613-168572614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534205359	chr1:168572639-168572640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369856410	chr1:168572659-168572660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72705895	chr1:168572720-168572721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12138982	chr1:168572760-168572761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538003788	chr1:168572764-168572765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557074392	chr1:168572785-168572786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182758560	chr1:168572792-168572793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539686192	chr1:168572799-168572800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557653225	chr1:168572804-168572805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187510966	chr1:168572818-168572819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs988723	chr1:168572859-168572860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114375819	chr1:168572861-168572862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373814423	chr1:168572906-168572907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573398521	chr1:168572926-168572927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536836536	chr1:168572952-168572953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs988724	chr1:168573041-168573042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs76305105	chr1:168573042-168573043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192748145	chr1:168573092-168573093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552020573	chr1:168573102-168573103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560743779	chr1:168573135-168573136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553559345	chr1:168573149-168573150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528022588	chr1:168573162-168573163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12042962	chr1:168573174-168573175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs988725	chr1:168573193-168573194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538298976	chr1:168573195-168573196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550024090	chr1:168573207-168573208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144956042	chr1:168573221-168573222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168568600-168578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:168569200-168582600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:168569600-168578600	Weak transcription	Left Ventricle	heart
4	chr1:168569600-168582400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:168569800-168578400	Weak transcription	Fetal Heart	heart
6	chr1:168570800-168578400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:168571200-168572600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:168571200-168573000	Weak transcription	Hela-S3	cervix
9	chr1:168571600-168573000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:168571800-168572800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:168572600-168572800	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:168572600-168573200	Enhancers	Brain Hippocampus Middle	brain
13	chr1:168572600-168573200	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:168572600-168573200	Enhancers	A549	lung
15	chr1:168572800-168573200	Enhancers	Ovary	ovary
16	chr1:168572800-168573200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:168572800-168573400	Enhancers	Colon Smooth Muscle	Colon
18	chr1:168572800-168574200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:168573000-168573200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:168573000-168573200	Enhancers	Psoas Muscle	Psoas
21	chr1:168573000-168573200	Enhancers	Right Atrium	heart
22	chr1:168573000-168573200	Enhancers	Small Intestine	intestine
23	chr1:168573000-168573200	Enhancers	Hela-S3	cervix
24	chr1:168573000-168573400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:168573000-168573400	Enhancers	Right Ventricle	heart
26	chr1:168573000-168573400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:168573000-168573600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:168573200-168573800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:168573200-168574600	Weak transcription	Small Intestine	intestine
30	chr1:168573200-168576000	Weak transcription	Psoas Muscle	Psoas
31	chr1:168573200-168578000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:168573200-168582200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:168573400-168576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:168573400-168578000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:168573400-168578800	Weak transcription	Right Ventricle	heart
36	chr1:168573600-168576000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:168573800-168574800	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:168574200-168574800	Enhancers	Stomach Smooth Muscle	stomach

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