Variant report

Variant	esv3463167
Chromosome Location	chr3:195564729-195564993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195564878-195564928	PrEC	prostate:	n/a
2	chr3:195564878-195564928	MCF-7	breast:	n/a
3	chr3:195564878-195564928	PFSK-1	brain:	n/a
4	chr3:195564748-195564798	HCPEpiC	choroid plexus:	n/a
5	chr3:195564748-195564798	SAEC	small airway:	n/a
6	chr3:195564951-195565001	AG09319	gingival:	n/a
7	chr3:195564951-195565001	BE2_C	brain:	n/a
8	chr3:195564748-195564798	SKMC	muscle:	n/a
9	chr3:195564951-195565001	ovcar-3	ovarian:	n/a
10	chr3:195564878-195564928	HCM	heart:	n/a
11	chr3:195564748-195564798	HCF	heart:	n/a
12	chr3:195564878-195564928	BJ	skin:	n/a
13	chr3:195564748-195564798	AoSMC	blood vessel:	n/a
14	chr3:195564748-195564798	U87	brain:	n/a
15	chr3:195564878-195564928	HL-60	blood:	n/a
16	chr3:195564748-195564798	NT2-D1	testis:	n/a
17	chr3:195564748-195564798	HNPCEpiC	eye:	n/a
18	chr3:195564951-195565001	MCF-7	breast:	n/a
19	chr3:195564748-195564798	HL-60	blood:	n/a
20	chr3:195564878-195564928	LNCaP	prostate:	n/a
21	chr3:195564878-195564928	AG09309	skin:	n/a
22	chr3:195564878-195564928	GM12878	blood:	n/a
23	chr3:195564878-195564928	AG09319	gingival:	n/a
24	chr3:195564951-195565001	LNCaP	prostate:	n/a
25	chr3:195564748-195564798	GM19239	blood:	n/a
26	chr3:195564748-195564798	GM12892	blood:	n/a
27	chr3:195564748-195564798	SK-N-MC	brain:	n/a
28	chr3:195564951-195565001	HCF	heart:	n/a
29	chr3:195564878-195564928	PANC-1	pancreas:	n/a
30	chr3:195564878-195564928	T-47D	breast:	n/a
31	chr3:195564951-195565001	HCM	heart:	n/a
32	chr3:195564878-195564928	Hepatocyte	liver:	n/a
33	chr3:195564748-195564798	AG04450	lung:	fetal
34	chr3:195564748-195564798	NB4	blood:	n/a
35	chr3:195564878-195564928	HPAEpiC	pulmonary alveolar:	n/a
36	chr3:195564878-195564928	SK-N-MC	brain:	n/a
37	chr3:195564878-195564928	NT2-D1	testis:	n/a
38	chr3:195564748-195564798	AG10803	skin:	n/a
39	chr3:195564748-195564798	GM12878	blood:	n/a
40	chr3:195564951-195565001	HepG2	liver:	n/a
41	chr3:195564951-195565001	AG04450	lung:	fetal
42	chr3:195564748-195564798	HepG2	liver:	n/a
43	chr3:195564878-195564928	SK-N-SH_RA	brain:	n/a
44	chr3:195564878-195564928	AG10803	skin:	n/a
45	chr3:195564748-195564798	PrEC	prostate:	n/a
46	chr3:195564951-195565001	MCF10A-Er-Src	breast:	n/a
47	chr3:195564748-195564798	BE2_C	brain:	n/a
48	chr3:195564748-195564798	RPTEC	kidney:	n/a
49	chr3:195564748-195564798	SK-N-SH	brain:	n/a
50	chr3:195564748-195564798	HRE	kidney:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195549072..195550801-chr3:195564516..195566947,2	K562	blood:
2	chr3:195562017..195564300-chr3:195564370..195566279,2	MCF-7	breast:
3	chr3:195564688..195566453-chr3:195572036..195574100,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223783	CpG island
ENSG00000223783	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557201193	chr3:195564741-195564742	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373788521	chr3:195564754-195564755	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542601311	chr3:195564760-195564761	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560912054	chr3:195564766-195564767	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145583022	chr3:195564767-195564768	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540291025	chr3:195564773-195564774	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564990059	chr3:195564776-195564777	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532711188	chr3:195564781-195564782	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73085396	chr3:195564788-195564789	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6807154	chr3:195564802-195564803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60834536	chr3:195564816-195564817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9810584	chr3:195564827-195564828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572873280	chr3:195564834-195564835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6583220	chr3:195564838-195564839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs6583221	chr3:195564843-195564844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533939751	chr3:195564850-195564851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552226906	chr3:195564851-195564852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs60290708	chr3:195564878-195564879	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9810735	chr3:195564889-195564890	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376835031	chr3:195564896-195564897	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62283277	chr3:195564897-195564898	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113730941	chr3:195564900-195564901	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62283278	chr3:195564902-195564903	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62283279	chr3:195564905-195564906	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9810747	chr3:195564912-195564913	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138282332	chr3:195564940-195564941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs6583222	chr3:195564946-195564947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554914027	chr3:195564951-195564952	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113913948	chr3:195564959-195564960	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113725202	chr3:195564964-195564965	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570949060	chr3:195564967-195564968	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564950511	chr3:195564989-195564990	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147327343	chr3:195564991-195564992	Weak transcription	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195556800-195566600	Weak transcription	Spleen	Spleen
2	chr3:195559200-195566600	Weak transcription	Right Atrium	heart
3	chr3:195564000-195566000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:195564200-195564800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:195564600-195564800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:195564600-195564800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:195564600-195565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:195564800-195565800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:195564800-195566000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:195564800-195566200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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