Variant report

Variant	esv3374464
Chromosome Location	chr1:172014139-172023467
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172010806..172014950-chr1:172015227..172019111,5	K562	blood:
2	chr1:172021401..172023221-chr1:172408357..172410732,2	K562	blood:
3	chr1:172015796..172017775-chr1:172021437..172023503,2	K562	blood:
4	chr1:172010806..172014950-chr1:172015227..172019111,5	K562	blood:
5	chr1:172014842..172016444-chr1:172016914..172019213,2	MCF-7	breast:
6	chr1:172009534..172012040-chr1:172017929..172019999,2	MCF-7	breast:
7	chr1:172014842..172016444-chr1:172016914..172019213,2	MCF-7	breast:
8	chr1:172015796..172017775-chr1:172021437..172023503,2	K562	blood:

No data

Extended variants
information (count: 344 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199766715	chr1:172014146-172014147	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs5778717	chr1:172014148-172014149	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200716728	chr1:172014150-172014151	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs3051637	chr1:172014152-172014153	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200454952	chr1:172014153-172014154	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201109761	chr1:172014155-172014156	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199742221	chr1:172014156-172014157	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552946851	chr1:172014171-172014172	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568020884	chr1:172014192-172014193	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73039305	chr1:172014194-172014195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376578886	chr1:172014202-172014203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150855208	chr1:172014210-172014211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77038886	chr1:172014211-172014212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7519236	chr1:172014219-172014220	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557157352	chr1:172014221-172014222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372698435	chr1:172014248-172014249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111975055	chr1:172014254-172014255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191578708	chr1:172014277-172014278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374300592	chr1:172014312-172014313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74783644	chr1:172014320-172014321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144204291	chr1:172014378-172014379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541027774	chr1:172014381-172014382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10797734	chr1:172014458-172014459	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530133995	chr1:172014496-172014497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184449099	chr1:172014515-172014516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563456786	chr1:172014557-172014558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188935553	chr1:172014579-172014580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552422130	chr1:172014580-172014581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115346681	chr1:172014655-172014656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200668514	chr1:172014662-172014663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528394357	chr1:172014674-172014675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546229606	chr1:172014730-172014731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567679160	chr1:172014783-172014784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146561024	chr1:172014795-172014796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535188540	chr1:172014840-172014841	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181622285	chr1:172014906-172014907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568636425	chr1:172014917-172014918	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527521865	chr1:172015003-172015004	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187228481	chr1:172015004-172015005	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs374730370	chr1:172015020-172015021	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs577418548	chr1:172015026-172015027	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140020182	chr1:172015093-172015094	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553082760	chr1:172015112-172015113	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs199982794	chr1:172015118-172015119	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149754796	chr1:172015143-172015144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200925215	chr1:172015159-172015160	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570576128	chr1:172015179-172015180	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2208366	chr1:172015194-172015195	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369692481	chr1:172015197-172015198	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190507113	chr1:172015222-172015223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171994000-172020400	Weak transcription	Left Ventricle	heart
2	chr1:172001400-172019000	Weak transcription	Fetal Brain Male	brain
3	chr1:172005600-172015200	Weak transcription	HSMMtube	muscle
4	chr1:172006400-172025600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:172007600-172014800	Weak transcription	Thymus	Thymus
6	chr1:172009200-172022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:172010000-172022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:172010400-172022000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:172010600-172014800	Weak transcription	Aorta	Aorta
10	chr1:172010600-172022400	Weak transcription	HMEC	breast
11	chr1:172010600-172051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:172010800-172019800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:172010800-172022400	Weak transcription	NHEK	skin
14	chr1:172010800-172037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:172011000-172019600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:172011400-172037800	Weak transcription	Ovary	ovary
17	chr1:172012400-172015000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:172012600-172022600	Weak transcription	Fetal Lung	lung
19	chr1:172012800-172015200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:172013000-172022400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:172013200-172014200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:172013200-172014200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:172013400-172014200	Enhancers	Dnd41	blood
24	chr1:172013400-172014800	Strong transcription	Brain Anterior Caudate	brain
25	chr1:172013400-172015200	Strong transcription	Brain Cingulate Gyrus	brain
26	chr1:172013800-172014200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:172013800-172014200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr1:172013800-172014600	Strong transcription	Brain Germinal Matrix	brain
29	chr1:172013800-172015000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:172013800-172015000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:172013800-172015000	Strong transcription	Fetal Brain Female	brain
32	chr1:172013800-172015200	Strong transcription	Brain Angular Gyrus	brain
33	chr1:172013800-172015200	Strong transcription	Brain Hippocampus Middle	brain
34	chr1:172013800-172015200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr1:172014000-172014200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:172014000-172014200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:172014000-172014200	Strong transcription	Brain Substantia Nigra	brain
38	chr1:172014000-172014200	Enhancers	Fetal Kidney	kidney
39	chr1:172014000-172014200	ZNF genes & repeats	Lung	lung
40	chr1:172014000-172023800	Weak transcription	Primary T cells from cord blood	blood
41	chr1:172014200-172015200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:172014200-172015400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:172014200-172015800	Weak transcription	Brain Substantia Nigra	brain
44	chr1:172014200-172024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:172014600-172024400	Weak transcription	Brain Germinal Matrix	brain
46	chr1:172014800-172015200	ZNF genes & repeats	Aorta	Aorta
47	chr1:172014800-172015200	ZNF genes & repeats	Brain Anterior Caudate	brain
48	chr1:172015000-172019000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:172015000-172024200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:172015000-172033200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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