Variant report

Variant	esv2423097
Chromosome Location	chr3:195825553-195827493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195827209..195829366-chr3:195848602..195851417,2	K562	blood:
2	chr3:195827209..195829338-chr3:195849917..195852372,2	K562	blood:
3	chr3:195807173..195809752-chr3:195823576..195825654,2	K562	blood:
4	chr3:195819662..195821659-chr3:195825682..195827828,2	K562	blood:
5	chr3:195824301..195827201-chr3:195827845..195831262,3	K562	blood:
6	chr3:195820003..195822218-chr3:195827394..195829467,2	MCF-7	breast:
7	chr3:195807363..195809011-chr3:195823500..195825960,3	MCF-7	breast:
8	chr3:195823642..195825667-chr3:195890214..195892220,2	K562	blood:
9	chr3:195827092..195829378-chr3:195833149..195835340,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072274	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62285394	chr3:195825628-195825629	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57230784	chr3:195825640-195825641	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560145345	chr3:195825657-195825658	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572220821	chr3:195825731-195825732	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12638089	chr3:195825732-195825733	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12638093	chr3:195825744-195825745	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376915350	chr3:195825749-195825750	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12634180	chr3:195825756-195825757	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113249858	chr3:195825762-195825763	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374052541	chr3:195825763-195825764	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368419677	chr3:195825774-195825775	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142555916	chr3:195825793-195825794	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4927872	chr3:195825834-195825835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545907481	chr3:195825876-195825877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372834225	chr3:195825877-195825878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4927873	chr3:195825882-195825883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs67509224	chr3:195825894-195825895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71630183	chr3:195825906-195825907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374834566	chr3:195825912-195825913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367670040	chr3:195825924-195825925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71321878	chr3:195825929-195825930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372403506	chr3:195825942-195825943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111215254	chr3:195825954-195825955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531951917	chr3:195825959-195825960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544737559	chr3:195825972-195825973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191361199	chr3:195825973-195825974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373524566	chr3:195825981-195825982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529497021	chr3:195825989-195825990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376859325	chr3:195826003-195826004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369023226	chr3:195826014-195826015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373719844	chr3:195826027-195826028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377454841	chr3:195826044-195826045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565727427	chr3:195826045-195826046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370335346	chr3:195826074-195826075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373491629	chr3:195826092-195826093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62285395	chr3:195826093-195826094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551831776	chr3:195826101-195826102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370833944	chr3:195826104-195826105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374149057	chr3:195826109-195826110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368332439	chr3:195826114-195826115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370565371	chr3:195826122-195826123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189662885	chr3:195826123-195826124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367813796	chr3:195826152-195826153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112852549	chr3:195826213-195826214	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375690828	chr3:195826225-195826226	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113264724	chr3:195826239-195826240	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538061136	chr3:195826257-195826258	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556045585	chr3:195826275-195826276	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574790421	chr3:195826277-195826278	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549714131	chr3:195826278-195826279	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195821600-195835000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:195822400-195828000	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:195822800-195825600	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:195822800-195825800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:195823400-195825800	Enhancers	K562	blood
6	chr3:195823400-195826800	Enhancers	Duodenum Mucosa	Duodenum
7	chr3:195823600-195825800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:195823800-195825600	Enhancers	GM12878-XiMat	blood
9	chr3:195823800-195826000	Weak transcription	Esophagus	oesophagus
10	chr3:195823800-195827400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:195824000-195826400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:195824600-195826200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr3:195824800-195826200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:195825000-195826000	Weak transcription	Primary B cells from cord blood	blood
15	chr3:195825000-195826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:195825200-195826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:195825400-195825600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:195825400-195825600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:195825400-195825800	Enhancers	NHEK	skin
20	chr3:195825600-195825800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:195825600-195825800	Enhancers	Lung	lung
22	chr3:195825600-195826400	Weak transcription	GM12878-XiMat	blood
23	chr3:195825600-195827400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:195825600-195827800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr3:195825800-195826200	Weak transcription	Lung	lung
26	chr3:195825800-195826400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:195825800-195827800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:195826000-195826600	Enhancers	Esophagus	oesophagus
29	chr3:195826000-195828200	Enhancers	Primary B cells from cord blood	blood
30	chr3:195826200-195827000	ZNF genes & repeats	Lung	lung
31	chr3:195826200-195827200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:195826200-195827400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:195826400-195826600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:195826400-195826600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr3:195826400-195826800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr3:195826400-195827000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:195826400-195827200	Enhancers	GM12878-XiMat	blood
38	chr3:195826400-195827400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:195826400-195827400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr3:195826400-195827800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:195826600-195827200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:195826600-195828000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr3:195826800-195827200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr3:195826800-195827600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:195826800-195828000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr3:195827000-195831600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:195827200-195827400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr3:195827400-195827800	Enhancers	Primary hematopoietic stem cells	blood
49	chr3:195827400-195831800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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