Variant report

Variant	esv3392199
Chromosome Location	chr1:172540479-172541927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172499376..172501724-chr1:172539037..172541418,2	K562	blood:
2	chr1:172499376..172501667-chr1:172538683..172540537,2	K562	blood:
3	chr1:172501115..172503585-chr1:172541113..172543776,2	K562	blood:
4	chr1:172540565..172542685-chr1:172550671..172552538,2	K562	blood:
5	chr1:172536299..172538930-chr1:172539967..172542813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094975	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568033151	chr1:172540490-172540491	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574787145	chr1:172540537-172540538	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368728478	chr1:172540540-172540541	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550558697	chr1:172540544-172540545	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568750927	chr1:172540556-172540557	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187703516	chr1:172540559-172540560	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377469289	chr1:172540567-172540568	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113988327	chr1:172540606-172540607	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572941864	chr1:172540608-172540609	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111349064	chr1:172540611-172540612	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111361392	chr1:172540619-172540620	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113598430	chr1:172540626-172540627	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575223452	chr1:172540647-172540648	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201794132	chr1:172540653-172540654	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182443134	chr1:172540671-172540672	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201851219	chr1:172540731-172540732	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12728896	chr1:172540785-172540786	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111660992	chr1:172540847-172540848	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370061788	chr1:172540886-172540887	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12743647	chr1:172540889-172540890	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12729188	chr1:172540935-172540936	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12743798	chr1:172540936-172540937	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12725218	chr1:172540951-172540952	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12743810	chr1:172540954-172540955	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577198332	chr1:172540963-172540964	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193174949	chr1:172540974-172540975	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184607808	chr1:172540976-172540977	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531496089	chr1:172540979-172540980	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188297144	chr1:172540984-172540985	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12742636	chr1:172540998-172540999	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12743833	chr1:172541001-172541002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12743941	chr1:172541008-172541009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183602762	chr1:172541025-172541026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76330235	chr1:172541044-172541045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539075630	chr1:172541113-172541114	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs80004644	chr1:172541126-172541127	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186336371	chr1:172541157-172541158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112667356	chr1:172541175-172541176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201274663	chr1:172541185-172541186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376516658	chr1:172541197-172541198	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569653282	chr1:172541206-172541207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535219837	chr1:172541213-172541214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528702208	chr1:172541217-172541218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374566472	chr1:172541218-172541219	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547255102	chr1:172541227-172541228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200293024	chr1:172541249-172541250	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188306310	chr1:172541268-172541269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564254129	chr1:172541273-172541274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528534363	chr1:172541282-172541283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540041071	chr1:172541326-172541327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
3	chr1:172516800-172550200	Weak transcription	Fetal Heart	heart
4	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
5	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:172527000-172558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:172527800-172550400	Weak transcription	Stomach Mucosa	stomach
9	chr1:172527800-172554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:172528400-172543000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:172528400-172547800	Weak transcription	A549	lung
12	chr1:172534800-172558000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:172535200-172547800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:172535200-172558000	Weak transcription	HSMMtube	muscle
15	chr1:172535400-172554200	Weak transcription	NHEK	skin
16	chr1:172535400-172558000	Weak transcription	Left Ventricle	heart
17	chr1:172535400-172558000	Weak transcription	Right Ventricle	heart
18	chr1:172535400-172558200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:172535600-172546400	Weak transcription	HepG2	liver
20	chr1:172535600-172558000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:172535600-172569200	Weak transcription	Gastric	stomach
22	chr1:172535800-172542400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:172536000-172558000	Weak transcription	Fetal Stomach	stomach
24	chr1:172536000-172565400	Weak transcription	Ovary	ovary
25	chr1:172536000-172565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:172536000-172566000	Weak transcription	Aorta	Aorta
27	chr1:172537400-172565600	Weak transcription	Lung	lung
28	chr1:172538200-172540600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr1:172538800-172547600	Weak transcription	Hela-S3	cervix
30	chr1:172539000-172543400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:172539400-172540600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:172539800-172541600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:172539800-172550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:172540000-172540600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:172540000-172540600	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr1:172540000-172541000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
37	chr1:172540200-172542000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:172540200-172542000	Weak transcription	HSMM	muscle
39	chr1:172540200-172543200	Weak transcription	Osteobl	bone
40	chr1:172540200-172543800	Weak transcription	Brain Germinal Matrix	brain
41	chr1:172540200-172544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:172540200-172547400	Weak transcription	Fetal Brain Male	brain
43	chr1:172540200-172548200	Weak transcription	NHDF-Ad	bronchial
44	chr1:172540200-172550800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:172540200-172557400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:172540200-172558000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:172540200-172581000	Weak transcription	Colonic Mucosa	Colon
48	chr1:172540400-172540800	Weak transcription	Spleen	Spleen
49	chr1:172540400-172541800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:172540400-172541800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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