Variant report

Variant	nsv1000347
Chromosome Location	chr1:242555399-242583213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:242570206..242572074-chr1:242586277..242589124,2	K562	blood:
2	chr1:242579229..242580899-chr1:242592362..242595019,2	K562	blood:
3	chr1:242576728..242577460-chr2:3592302..3593192,2	MCF-7	breast:

Extended variants
information (count: 1375 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1375 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536945143	chr1:242555463-242555464	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs540043210	chr1:242555484-242555485	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs118075294	chr1:242555499-242555500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs532488214	chr1:242555508-242555509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552234988	chr1:242555512-242555513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547769256	chr1:242555533-242555534	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181610488	chr1:242555607-242555608	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569259649	chr1:242555610-242555611	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531602675	chr1:242555639-242555640	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548902073	chr1:242555643-242555644	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143949352	chr1:242555683-242555684	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534456542	chr1:242555686-242555687	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372343763	chr1:242555701-242555702	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544427204	chr1:242555740-242555741	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186303153	chr1:242555772-242555773	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191106657	chr1:242555781-242555782	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77106330	chr1:242555825-242555826	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564618860	chr1:242555854-242555855	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540086805	chr1:242555874-242555875	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148674802	chr1:242555884-242555885	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372631703	chr1:242555896-242555897	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543874821	chr1:242555923-242555924	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182174496	chr1:242555924-242555925	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554162116	chr1:242555927-242555928	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2796135	chr1:242555949-242555950	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs546357944	chr1:242555957-242555958	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114563231	chr1:242555975-242555976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558378357	chr1:242556014-242556015	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543908639	chr1:242556025-242556026	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs545936735	chr1:242556055-242556056	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562830447	chr1:242556067-242556068	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs560509276	chr1:242556081-242556082	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576661760	chr1:242556108-242556109	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531788122	chr1:242556131-242556132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548294597	chr1:242556156-242556157	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs2810023	chr1:242556168-242556169	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528005776	chr1:242556173-242556174	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs548094763	chr1:242556180-242556181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571104873	chr1:242556184-242556185	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs187988348	chr1:242556192-242556193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556678767	chr1:242556222-242556223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568865370	chr1:242556229-242556230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537919614	chr1:242556231-242556232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554285932	chr1:242556276-242556277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2491874	chr1:242556277-242556278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540162178	chr1:242556304-242556305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553645033	chr1:242556334-242556335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11576279	chr1:242556335-242556336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191124713	chr1:242556355-242556356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28658049	chr1:242556373-242556374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242485600-242555400	Weak transcription	Aorta	Aorta
2	chr1:242538000-242555400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:242547200-242575200	Weak transcription	HMEC	breast
4	chr1:242549800-242580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:242553800-242555400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:242555000-242555400	Weak transcription	NHEK	skin
7	chr1:242555000-242556200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:242555000-242556200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:242555400-242556000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:242555400-242556000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:242555400-242556000	ZNF genes & repeats	Aorta	Aorta
12	chr1:242555400-242556000	ZNF genes & repeats	NHEK	skin
13	chr1:242555600-242556000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr1:242555800-242556000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
15	chr1:242556000-242565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:242556000-242565000	Weak transcription	NHEK	skin
17	chr1:242556000-242575200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:242556000-242586600	Weak transcription	Aorta	Aorta
19	chr1:242556200-242569200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:242556200-242570600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:242561600-242562200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:242561800-242566400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:242562000-242562600	Enhancers	Brain Angular Gyrus	brain
24	chr1:242562800-242563200	Enhancers	Fetal Brain Male	brain
25	chr1:242565000-242565400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:242565000-242565400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:242565000-242565600	Enhancers	NHEK	skin
28	chr1:242565400-242572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:242565600-242567000	Weak transcription	NHEK	skin
30	chr1:242566400-242566800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:242567800-242569200	Weak transcription	NHEK	skin
32	chr1:242569200-242569600	Enhancers	NHEK	skin
33	chr1:242569200-242569800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:242569800-242575000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:242571800-242572000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:242572000-242574200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:242572800-242573800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:242573200-242575400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:242573800-242575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:242574800-242584800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:242575000-242575800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:242575000-242575800	Enhancers	NHEK	skin
43	chr1:242575000-242576200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:242575200-242575600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:242575200-242575800	Enhancers	HMEC	breast
46	chr1:242575400-242575600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:242575800-242577000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:242575800-242589400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:242576200-242587400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:242577000-242577800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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