Variant report

Variant	esv3357793
Chromosome Location	chr1:161937743-161939406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161934463..161936874-chr1:161938543..161943088,4	K562	blood:
2	chr1:161919306..161921320-chr1:161939267..161942009,2	MCF-7	breast:
3	chr1:161930299..161933579-chr1:161936760..161939444,3	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72709913	chr1:161937773-161937774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71639910	chr1:161937774-161937775	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs137955939	chr1:161937822-161937823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142421523	chr1:161937868-161937869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3002626	chr1:161937892-161937893	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs538623433	chr1:161937903-161937904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563094291	chr1:161937908-161937909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370300191	chr1:161937990-161937991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187862772	chr1:161937996-161937997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146119028	chr1:161938007-161938008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373840272	chr1:161938013-161938014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72709914	chr1:161938017-161938018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111383858	chr1:161938033-161938034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545506565	chr1:161938047-161938048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569201375	chr1:161938063-161938064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538325829	chr1:161938069-161938070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74800980	chr1:161938077-161938078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10429885	chr1:161938079-161938080	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536470203	chr1:161938085-161938086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553267198	chr1:161938104-161938105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386636139	chr1:161938116-161938117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2490435	chr1:161938117-161938118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112435612	chr1:161938130-161938131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368062169	chr1:161938143-161938144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190841461	chr1:161938156-161938157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182329923	chr1:161938160-161938161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560681264	chr1:161938164-161938165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530204835	chr1:161938172-161938173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567922611	chr1:161938189-161938190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546806640	chr1:161938217-161938218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531071481	chr1:161938221-161938222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532845119	chr1:161938237-161938238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544365120	chr1:161938246-161938247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569218418	chr1:161938261-161938262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550956337	chr1:161938291-161938292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2499842	chr1:161938311-161938312	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs72709916	chr1:161938318-161938319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548673030	chr1:161938341-161938342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115737810	chr1:161938380-161938381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10800175	chr1:161938416-161938417	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560942290	chr1:161938424-161938425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566594343	chr1:161938456-161938457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149518846	chr1:161938467-161938468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12757314	chr1:161938468-161938469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558615378	chr1:161938470-161938471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575157187	chr1:161938475-161938476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2490434	chr1:161938508-161938509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554210473	chr1:161938534-161938535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574205536	chr1:161938544-161938545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187736186	chr1:161938573-161938574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161897800-161940000	Weak transcription	Brain Germinal Matrix	brain
2	chr1:161902800-161943400	Weak transcription	Esophagus	oesophagus
3	chr1:161904800-161956600	Weak transcription	Fetal Brain Male	brain
4	chr1:161911600-161939400	Weak transcription	HepG2	liver
5	chr1:161912600-161941600	Weak transcription	Fetal Kidney	kidney
6	chr1:161926200-161939400	Weak transcription	Fetal Heart	heart
7	chr1:161926200-161942200	Weak transcription	Right Ventricle	heart
8	chr1:161927000-161944000	Weak transcription	Colonic Mucosa	Colon
9	chr1:161928200-161938000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:161928200-161938800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:161928400-161941800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:161928600-161939000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:161929000-161943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:161929200-161944000	Weak transcription	Ovary	ovary
15	chr1:161931000-161938400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:161931000-161939600	Weak transcription	Fetal Brain Female	brain
17	chr1:161931000-161943200	Weak transcription	Placenta	Placenta
18	chr1:161931200-161940400	Weak transcription	Fetal Thymus	thymus
19	chr1:161931200-161940600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:161931200-161942400	Weak transcription	Spleen	Spleen
21	chr1:161931200-161943400	Weak transcription	Psoas Muscle	Psoas
22	chr1:161931400-161943400	Weak transcription	K562	blood
23	chr1:161931800-161942800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:161932200-161939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:161932400-161939200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:161932400-161939400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:161932400-161942200	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:161932400-161955400	Weak transcription	Brain Substantia Nigra	brain
29	chr1:161932600-161938000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:161932600-161938200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:161932600-161939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:161932600-161940200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:161932600-161940400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:161932600-161940400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:161932600-161940400	Weak transcription	Brain Anterior Caudate	brain
36	chr1:161932600-161943200	Weak transcription	Adipose Nuclei	Adipose
37	chr1:161932600-161943200	Weak transcription	Right Atrium	heart
38	chr1:161932600-161943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:161932800-161938200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:161932800-161940200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:161932800-161943200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:161932800-161944000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:161933000-161938000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:161933000-161938600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:161933000-161939000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:161933200-161939000	Weak transcription	NHEK	skin
47	chr1:161933200-161939400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:161933200-161940400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:161933400-161940400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:161933400-161941800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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