Variant report

Variant	esv3360286
Chromosome Location	chr1:174044479-174046527
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173939340..173940107-chr1:174043783..174044572,3	MCF-7	breast:
2	chr1:174043944..174046107-chr1:174046263..174049040,3	MCF-7	breast:
3	chr1:173836233..173838520-chr1:174043395..174046203,3	K562	blood:
4	chr1:174043944..174046107-chr1:174046263..174049040,3	MCF-7	breast:
5	chr1:174045340..174046921-chr1:174165534..174168134,2	K562	blood:
6	chr1:173827518..173829337-chr1:174042561..174045221,2	MCF-7	breast:
7	chr1:173990446..173992908-chr1:174043586..174046492,2	MCF-7	breast:
8	chr1:174037460..174040241-chr1:174043210..174045620,2	K562	blood:
9	chr1:173840096..173840820-chr1:174043690..174044494,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185278	chromatin interactions
ENSG00000135870	chromatin interactions
ENSG00000224977	chromatin interactions
ENSG00000234741	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536114072	chr1:174044481-174044482	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs544911516	chr1:174044631-174044632	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs76473937	chr1:174044777-174044778	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs527618863	chr1:174044786-174044787	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs552865686	chr1:174044815-174044816	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs73029104	chr1:174044843-174044844	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568853253	chr1:174044849-174044850	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs560898752	chr1:174044857-174044858	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs572490676	chr1:174044858-174044859	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs550213738	chr1:174044866-174044867	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs537993268	chr1:174044870-174044871	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs538277435	chr1:174044877-174044878	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs570085276	chr1:174044922-174044923	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs1547773	chr1:174044952-174044953	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs575339702	chr1:174044978-174044979	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs566368672	chr1:174044979-174044980	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs56224922	chr1:174044990-174044991	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs557423516	chr1:174045131-174045132	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs187706245	chr1:174045165-174045166	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs377529181	chr1:174045207-174045208	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs536739575	chr1:174045303-174045304	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs535295184	chr1:174045310-174045311	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs555304418	chr1:174045320-174045321	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs567245341	chr1:174045321-174045322	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs370988597	chr1:174045351-174045352	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs535887660	chr1:174045354-174045355	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs556210200	chr1:174045437-174045438	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs576086165	chr1:174045490-174045491	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs563861482	chr1:174045496-174045497	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs545176779	chr1:174045537-174045538	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs558287457	chr1:174045562-174045563	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs571910539	chr1:174045590-174045591	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs527739279	chr1:174045593-174045594	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs574297156	chr1:174045623-174045624	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs374307654	chr1:174045641-174045642	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs368191576	chr1:174045668-174045669	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs543479948	chr1:174045676-174045677	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs563799847	chr1:174045711-174045712	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs532540513	chr1:174045727-174045728	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs57613139	chr1:174045737-174045738	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs193282471	chr1:174045747-174045748	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs59311495	chr1:174045760-174045761	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528718393	chr1:174045765-174045766	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs548868664	chr1:174045793-174045794	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs568807338	chr1:174045862-174045863	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs185647310	chr1:174045892-174045893	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs555935120	chr1:174045903-174045904	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs569641281	chr1:174045914-174045915	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs111423717	chr1:174045988-174045989	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs78117171	chr1:174045989-174045990	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174042200-174046400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:174042600-174044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:174043000-174046800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:174044200-174044600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:174044200-174044600	Enhancers	HSMMtube	muscle
6	chr1:174044200-174044800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:174044200-174044800	Enhancers	K562	blood
8	chr1:174044200-174045000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:174044400-174044800	Enhancers	Fetal Lung	lung
10	chr1:174044400-174044800	Enhancers	Hela-S3	cervix
11	chr1:174044600-174046800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:174044800-174046400	Weak transcription	K562	blood
13	chr1:174044800-174046800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:174044800-174046800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:174045000-174046600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:174046400-174046800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:174046400-174046800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:174046400-174046800	Enhancers	K562	blood
19	chr1:174046400-174047000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:174046400-174047200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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