Variant report

Variant	nsv947068
Chromosome Location	chr1:224161644-224166600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550041864	chr1:224161696-224161697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573971876	chr1:224161768-224161769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368342427	chr1:224161769-224161770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112334271	chr1:224161772-224161773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375199690	chr1:224161835-224161836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112654800	chr1:224161930-224161931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113128949	chr1:224161931-224161932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200534747	chr1:224161940-224161941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533100052	chr1:224161975-224161976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551379698	chr1:224162017-224162018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566500059	chr1:224162153-224162154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201307366	chr1:224162163-224162164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533790465	chr1:224162186-224162187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540989533	chr1:224162197-224162198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549615682	chr1:224162204-224162205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567870763	chr1:224162209-224162210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538433351	chr1:224162248-224162249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9726396	chr1:224162321-224162322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577702624	chr1:224162469-224162470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538778727	chr1:224162478-224162479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192507327	chr1:224162507-224162508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572076119	chr1:224162521-224162522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200768214	chr1:224162534-224162535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9793367	chr1:224162591-224162592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199856899	chr1:224162662-224162663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571754951	chr1:224162759-224162760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199519318	chr1:224162787-224162788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573898443	chr1:224162821-224162822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200488170	chr1:224163025-224163026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370212868	chr1:224163127-224163128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144272780	chr1:224163150-224163151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544386466	chr1:224163152-224163153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562705953	chr1:224163162-224163163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533036011	chr1:224163238-224163239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551471286	chr1:224163239-224163240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560302620	chr1:224163297-224163298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527241919	chr1:224163366-224163367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548753101	chr1:224163405-224163406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567942226	chr1:224163419-224163420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531947525	chr1:224163466-224163467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550329132	chr1:224163547-224163548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571480086	chr1:224163567-224163568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538864156	chr1:224163585-224163586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553808664	chr1:224163645-224163646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565839865	chr1:224163711-224163712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114971531	chr1:224163723-224163724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554706288	chr1:224163748-224163749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573862645	chr1:224163812-224163813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375972690	chr1:224163871-224163872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556516433	chr1:224163873-224163874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224136400-224179800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224138000-224162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:224138000-224163800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:224138000-224170000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:224138000-224179600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:224138200-224179200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:224138200-224179600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:224138200-224179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:224138400-224179600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:224138400-224179800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:224138600-224179600	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:224138800-224179800	Weak transcription	Left Ventricle	heart
13	chr1:224139800-224163200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:224139800-224174000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:224139800-224179600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:224140000-224170000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:224140200-224179800	Weak transcription	Placenta	Placenta
18	chr1:224140400-224179200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:224140400-224179800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:224141400-224179200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:224145000-224179800	Weak transcription	Primary T cells from cord blood	blood
22	chr1:224146800-224179600	Weak transcription	Fetal Intestine Large	intestine
23	chr1:224148600-224163200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:224150000-224179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:224150000-224179800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:224150200-224179800	Weak transcription	Liver	Liver
27	chr1:224150400-224173200	Weak transcription	Fetal Stomach	stomach
28	chr1:224154600-224179200	Weak transcription	Psoas Muscle	Psoas
29	chr1:224157800-224163000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:224157800-224168600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:224158000-224179400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:224158000-224179800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:224158400-224164200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:224159200-224168400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:224160400-224162200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:224160800-224164200	Weak transcription	Brain Anterior Caudate	brain
37	chr1:224161200-224164000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:224161400-224179600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:224161600-224163800	Weak transcription	Adipose Nuclei	Adipose
40	chr1:224161600-224179800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:224162200-224179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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