Variant report

Variant	esv1817250
Chromosome Location	chr1:162086785-162114346
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:162100645..162103697-chr1:162104589..162108232,3	K562	blood:
2	chr1:162106772..162109195-chr1:162110116..162111770,2	MCF-7	breast:
3	chr1:162039484..162041090-chr1:162106434..162108575,2	MCF-7	breast:
4	chr1:162104217..162104727-chr1:162135376..162135901,2	MCF-7	breast:
5	chr1:162106772..162109195-chr1:162110116..162111770,2	MCF-7	breast:
6	chr1:162085605..162088332-chr1:162090625..162092771,2	MCF-7	breast:
7	chr1:162039482..162041875-chr1:162096109..162097688,2	MCF-7	breast:
8	chr1:162112246..162113810-chr1:162132806..162135627,2	MCF-7	breast:
9	chr1:162104266..162105075-chr1:162129320..162129831,2	MCF-7	breast:
10	chr1:162104266..162105075-chr1:162129283..162129831,3	MCF-7	breast:
11	chr1:162080600..162082628-chr1:162090836..162093684,2	MCF-7	breast:
12	chr1:162081470..162083932-chr1:162084884..162087550,2	K562	blood:
13	chr1:162112798..162115753-chr1:162116737..162118813,2	MCF-7	breast:
14	chr1:162096979..162099613-chr1:162133861..162136914,3	MCF-7	breast:
15	chr1:162085605..162088332-chr1:162090625..162092771,2	MCF-7	breast:
16	chr1:162075076..162076695-chr1:162086429..162089267,2	MCF-7	breast:
17	chr1:162078405..162079940-chr1:162112856..162114543,2	MCF-7	breast:
18	chr1:162082769..162084434-chr1:162085977..162088712,2	MCF-7	breast:
19	chr1:162084126..162086362-chr1:162088097..162092257,3	K562	blood:
20	chr1:162100645..162103697-chr1:162104589..162108232,3	K562	blood:
21	chr1:162104443..162106838-chr1:162122836..162124478,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198929	chromatin interactions

Extended variants
information (count: 996 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73023273	chr1:162086785-162086786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531240457	chr1:162086854-162086855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191468569	chr1:162086880-162086881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531353826	chr1:162086889-162086890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568210607	chr1:162086970-162086971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151115055	chr1:162087008-162087009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139922010	chr1:162087063-162087064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149813469	chr1:162087070-162087071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556606949	chr1:162087093-162087094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576369706	chr1:162087122-162087123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547912353	chr1:162087141-162087142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541867508	chr1:162087146-162087147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555394969	chr1:162087152-162087153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369141527	chr1:162087186-162087187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145525782	chr1:162087226-162087227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181645915	chr1:162087230-162087231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532232622	chr1:162087243-162087244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534948095	chr1:162087244-162087245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546061058	chr1:162087245-162087246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140271336	chr1:162087251-162087252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147421409	chr1:162087354-162087355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185539333	chr1:162087381-162087382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548213627	chr1:162087406-162087407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190249425	chr1:162087409-162087410	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533690286	chr1:162087456-162087457	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10800312	chr1:162087493-162087494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs80069991	chr1:162087541-162087542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200144605	chr1:162087581-162087582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs571003664	chr1:162087596-162087597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182833449	chr1:162087676-162087677	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570721710	chr1:162087679-162087680	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187558454	chr1:162087705-162087706	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570255256	chr1:162087746-162087747	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113144039	chr1:162087772-162087773	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535416763	chr1:162087797-162087798	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs539599271	chr1:162087798-162087799	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572177504	chr1:162087850-162087851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541103745	chr1:162087882-162087883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558002733	chr1:162087976-162087977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556452456	chr1:162087977-162087978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80349199	chr1:162088034-162088035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562758975	chr1:162088063-162088064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531650896	chr1:162088078-162088079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541815051	chr1:162088106-162088107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561690967	chr1:162088134-162088135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191153899	chr1:162088192-162088193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367980767	chr1:162088203-162088204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs118077420	chr1:162088211-162088212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564066901	chr1:162088215-162088216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536122214	chr1:162088216-162088217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162076600-162089200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:162081200-162089600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:162081600-162086800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:162081800-162086800	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:162081800-162087600	Weak transcription	Aorta	Aorta
6	chr1:162083200-162089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:162084600-162089600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:162084800-162087200	Weak transcription	Left Ventricle	heart
9	chr1:162085400-162087600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:162085400-162087800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:162085800-162098600	Weak transcription	HepG2	liver
12	chr1:162086000-162086800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:162086000-162088800	Enhancers	Brain Substantia Nigra	brain
14	chr1:162086200-162087400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:162086200-162088000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:162086200-162088400	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:162086200-162089400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:162086200-162089800	Enhancers	Brain Hippocampus Middle	brain
19	chr1:162086400-162087000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:162086400-162087800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:162086600-162087800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:162086600-162088200	Enhancers	Brain Angular Gyrus	brain
23	chr1:162086600-162089000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:162086800-162087200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:162086800-162087400	Enhancers	Colon Smooth Muscle	Colon
26	chr1:162086800-162087800	Enhancers	Fetal Lung	lung
27	chr1:162086800-162089000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:162087000-162087600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:162087000-162087600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:162087200-162087400	Enhancers	Brain Anterior Caudate	brain
31	chr1:162087200-162087600	Enhancers	Left Ventricle	heart
32	chr1:162087200-162088000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:162087400-162087600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:162087400-162087600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr1:162087400-162087800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:162087400-162087800	Enhancers	Pancreas	Pancrea
37	chr1:162087600-162087800	ZNF genes & repeats	Aorta	Aorta
38	chr1:162087600-162087800	Active TSS	Brain Anterior Caudate	brain
39	chr1:162087600-162088800	Weak transcription	Left Ventricle	heart
40	chr1:162087600-162089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:162087600-162091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:162087600-162095400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:162087800-162088200	Weak transcription	Aorta	Aorta
44	chr1:162087800-162088400	Enhancers	Brain Anterior Caudate	brain
45	chr1:162088000-162088600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:162088000-162089000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:162088200-162089000	Weak transcription	Brain Angular Gyrus	brain
48	chr1:162088400-162089400	Weak transcription	Brain Anterior Caudate	brain
49	chr1:162088600-162088800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:162088800-162089200	Flanking Active TSS	Brain Substantia Nigra	brain

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