Variant report

Variant	esv2511105
Chromosome Location	chr3:196269097-196270538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196270214..196272868-chr3:196294342..196295992,2	K562	blood:
2	chr3:196228123..196230544-chr3:196269103..196271110,2	MCF-7	breast:
3	chr3:196270236..196272883-chr3:196288169..196290344,2	MCF-7	breast:
4	chr3:196268693..196271310-chr3:196465862..196468428,2	K562	blood:

Variant related genes	Relation type
ENSG00000185798	chromatin interactions
ENSG00000180370	chromatin interactions
ENSG00000174013	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142917659	chr3:196269107-196269108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559982580	chr3:196269157-196269158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558736765	chr3:196269172-196269173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190431341	chr3:196269209-196269210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34899516	chr3:196269233-196269234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs151099399	chr3:196269244-196269245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527431647	chr3:196269283-196269284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141287167	chr3:196269391-196269392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75616043	chr3:196269446-196269447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79960982	chr3:196269447-196269448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78952700	chr3:196269448-196269449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562630892	chr3:196269459-196269460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574348580	chr3:196269485-196269486	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181470619	chr3:196269497-196269498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559729795	chr3:196269510-196269511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527934435	chr3:196269521-196269522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145066749	chr3:196269568-196269569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201776018	chr3:196269574-196269575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557547660	chr3:196269575-196269576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138794717	chr3:196269586-196269587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549982930	chr3:196269643-196269644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549780826	chr3:196269657-196269658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535840096	chr3:196269658-196269659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184830619	chr3:196269660-196269661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566081266	chr3:196269664-196269665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534051212	chr3:196269674-196269675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189396983	chr3:196269691-196269692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576942375	chr3:196269705-196269706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538091520	chr3:196269714-196269715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376284811	chr3:196269718-196269719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs140522772	chr3:196269719-196269720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554366669	chr3:196269725-196269726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566172940	chr3:196269736-196269737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144837024	chr3:196269744-196269745	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567621647	chr3:196269765-196269766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571727043	chr3:196269774-196269775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546069952	chr3:196269780-196269781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536769149	chr3:196269793-196269794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181784474	chr3:196269795-196269796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564826637	chr3:196269830-196269831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200182076	chr3:196269843-196269844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4513484	chr3:196269858-196269859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138643925	chr3:196269868-196269869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs76243975	chr3:196269890-196269891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4361312	chr3:196269910-196269911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576860268	chr3:196269942-196269943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376218367	chr3:196269979-196269980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529358487	chr3:196270014-196270015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547933819	chr3:196270032-196270033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566064824	chr3:196270042-196270043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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