Variant report

Variant	nsv945317
Chromosome Location	chr1:224133366-224138073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr1:224136404-224136682	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:224136289-224136708	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:224136354-224136650	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:224136451-224136656	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:224136360-224136651	GM12878	blood:	n/a	n/a
6	TCF3	chr1:224135824-224136004	GM12878	blood:	n/a	n/a
7	TCF3	chr1:224136413-224136623	GM12878	blood:	n/a	n/a
8	USF1	chr1:224137544-224137732	GM12878	blood:	n/a	chr1:224137627-224137638 chr1:224137628-224137637 chr1:224137629-224137638 chr1:224137629-224137638 chr1:224137627-224137640 chr1:224137623-224137644
9	USF1	chr1:224137542-224137746	HepG2	liver:	n/a	chr1:224137627-224137638 chr1:224137628-224137637 chr1:224137629-224137638 chr1:224137629-224137638 chr1:224137627-224137640 chr1:224137623-224137644
10	USF1	chr1:224137558-224137687	HepG2	liver:	n/a	chr1:224137627-224137638 chr1:224137628-224137637 chr1:224137629-224137638 chr1:224137629-224137638 chr1:224137627-224137640 chr1:224137623-224137644

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224136349-224136399	A549	lung:	n/a
2	chr1:224136349-224136399	NT2-D1	testis:	n/a
3	chr1:224136349-224136399	MCF-7	breast:	n/a
4	chr1:224136349-224136399	MCF10A-Er-Src	breast:	n/a
5	chr1:224136349-224136399	SK-N-MC	brain:	n/a
6	chr1:224136349-224136399	HEK293	kidney:	embryo
7	chr1:224136349-224136399	AG04450	lung:	fetal
8	chr1:224136349-224136399	SK-N-SH_RA	brain:	n/a
9	chr1:224136349-224136399	HepG2	liver:	n/a
10	chr1:224136349-224136399	SAEC	small airway:	n/a
11	chr1:224136349-224136399	Jurkat	blood:	n/a
12	chr1:224136349-224136399	CMK	blood:	n/a
13	chr1:224136349-224136399	HAEpiC	amniotic membrane:	n/a
14	chr1:224136349-224136399	HEEpiC	esophagus:	n/a
15	chr1:224136349-224136399	HCM	heart:	n/a
16	chr1:224136349-224136399	SK-N-SH	brain:	n/a
17	chr1:224136349-224136399	HRE	kidney:	n/a
18	chr1:224136349-224136399	SKMC	muscle:	n/a
19	chr1:224136349-224136399	Hepatocyte	liver:	n/a
20	chr1:224136349-224136399	AG09309	skin:	n/a
21	chr1:224136349-224136399	ECC-1	luminal epithelium:	n/a
22	chr1:224136349-224136399	IMR90	lung:	fetal
23	chr1:224136349-224136399	HCT-116	colon:	n/a
24	chr1:224136349-224136399	HCPEpiC	choroid plexus:	n/a
25	chr1:224136349-224136399	HL-60	blood:	n/a
26	chr1:224136349-224136399	Hela-S3	cervix:	n/a
27	chr1:224136349-224136399	HIPEpiC	eye:	n/a
28	chr1:224136349-224136399	HUVEC	blood vessel:	n/a
29	chr1:224136349-224136399	BE2_C	brain:	n/a
30	chr1:224136349-224136399	Caco-2	colon:	n/a
31	chr1:224136349-224136399	T-47D	breast:	n/a
32	chr1:224136349-224136399	GM12892	blood:	n/a
33	chr1:224136349-224136399	AG04449	skin:	fetal
34	chr1:224136349-224136399	H1-hESC	embryonic stem cell:	embryo
35	chr1:224136349-224136399	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:224136349-224136399	NH-A	brain:	n/a
37	chr1:224136349-224136399	BJ	skin:	n/a
38	chr1:224136349-224136399	GM12878	blood:	n/a
39	chr1:224136349-224136399	NB4	blood:	n/a
40	chr1:224136349-224136399	K562	blood:	n/a
41	chr1:224136349-224136399	NHBE	bronchial:	n/a
42	chr1:224136349-224136399	NHDF-neo	bronchial:	n/a
43	chr1:224136349-224136399	HMEC	breast:	n/a
44	chr1:224136349-224136399	AG09319	gingival:	n/a
45	chr1:224136349-224136399	PANC-1	pancreas:	n/a
46	chr1:224136349-224136399	HRCEpiC	kidney:	n/a
47	chr1:224136349-224136399	GM06990	blood:	n/a
48	chr1:224136349-224136399	AG10803	skin:	n/a
49	chr1:224136349-224136399	GM12891	blood:	n/a
50	chr1:224136349-224136399	HNPCEpiC	eye:	n/a

Variant related genes	Relation type
CICP5	TF binding region
CICP5	CpG island

Extended variants
information (count: 119 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76897100	chr1:224135870-224135871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79409340	chr1:224135886-224135887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556240806	chr1:224135887-224135888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149672608	chr1:224135889-224135890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75710217	chr1:224135900-224135901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192429340	chr1:224135908-224135909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111448171	chr1:224135923-224135924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560700183	chr1:224135933-224135934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376598707	chr1:224135951-224135952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145599838	chr1:224135959-224135960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543231873	chr1:224135980-224135981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184454946	chr1:224135984-224135985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548649861	chr1:224135985-224135986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77746865	chr1:224135994-224135995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549764676	chr1:224136006-224136007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140388654	chr1:224136007-224136008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77579344	chr1:224136013-224136014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75250512	chr1:224136025-224136026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533017636	chr1:224136142-224136143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376877173	chr1:224136159-224136160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551402678	chr1:224136201-224136202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78538264	chr1:224136260-224136261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566632169	chr1:224136261-224136262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9660904	chr1:224136278-224136279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs9660503	chr1:224136315-224136316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs557161253	chr1:224136336-224136337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533726847	chr1:224136407-224136408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200595694	chr1:224136424-224136425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549198935	chr1:224136428-224136429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373908049	chr1:224136470-224136471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567246099	chr1:224136507-224136508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367718248	chr1:224136510-224136511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370065947	chr1:224136536-224136537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537941643	chr1:224136543-224136544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556155287	chr1:224136554-224136555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201067129	chr1:224136555-224136556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368793520	chr1:224136577-224136578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201525041	chr1:224136612-224136613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201841995	chr1:224136614-224136615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539308732	chr1:224136651-224136652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372717451	chr1:224136655-224136656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572731293	chr1:224136671-224136672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200103630	chr1:224136749-224136750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112971023	chr1:224136755-224136756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78989517	chr1:224136759-224136760	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs375672107	chr1:224136779-224136780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368180850	chr1:224136783-224136784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553348974	chr1:224136809-224136810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561577700	chr1:224136812-224136813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375183107	chr1:224136826-224136827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	22522925	CNVD
Cancer	17060936	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224135800-224149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:224136200-224139400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:224136400-224179800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:224136600-224149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224137200-224138600	Weak transcription	Fetal Stomach	stomach
6	chr1:224137600-224139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:224137800-224139400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:224137800-224139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:224137800-224139400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:224137800-224139400	Weak transcription	Placenta	Placenta
11	chr1:224137800-224139400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:224137800-224139400	Weak transcription	Spleen	Spleen
13	chr1:224137800-224160600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:224138000-224139400	Weak transcription	Lung	lung
15	chr1:224138000-224139600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:224138000-224139600	Weak transcription	Ovary	ovary
17	chr1:224138000-224140000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:224138000-224141000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:224138000-224148200	Weak transcription	Liver	Liver
20	chr1:224138000-224162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:224138000-224163800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:224138000-224170000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:224138000-224179600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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