Variant report

Variant	esv3439894
Chromosome Location	chr19:36445203-36445955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36427463..36430221-chr19:36445078..36447269,2	MCF-7	breast:
2	chr19:36440986..36443512-chr19:36443562..36445464,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126243	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10426516	chr19:36445218-36445219	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571869068	chr19:36445240-36445241	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538601235	chr19:36445241-36445242	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560873177	chr19:36445293-36445294	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144051573	chr19:36445301-36445302	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377380241	chr19:36445318-36445319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370787352	chr19:36445324-36445325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543435526	chr19:36445338-36445339	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565256873	chr19:36445394-36445395	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532418725	chr19:36445412-36445413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547874589	chr19:36445416-36445417	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374822870	chr19:36445467-36445468	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566181399	chr19:36445468-36445469	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112201234	chr19:36445469-36445470	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147328887	chr19:36445470-36445471	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372394313	chr19:36445493-36445494	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575356221	chr19:36445504-36445505	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537776169	chr19:36445511-36445512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140706965	chr19:36445540-36445541	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571187242	chr19:36445546-36445547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376450361	chr19:36445574-36445575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184484090	chr19:36445575-36445576	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571853098	chr19:36445580-36445581	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs66903601	chr19:36445613-36445614	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188929848	chr19:36445648-36445649	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554662428	chr19:36445697-36445698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576181570	chr19:36445698-36445699	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543669300	chr19:36445706-36445707	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373203235	chr19:36445770-36445771	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565045312	chr19:36445794-36445795	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532504931	chr19:36445864-36445865	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144668783	chr19:36445865-36445866	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541485484	chr19:36445893-36445894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71167578	chr19:36445897-36445898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397720415	chr19:36445898-36445899	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372687330	chr19:36445899-36445900	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559877281	chr19:36445952-36445953	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36430000-36450000	Weak transcription	Right Atrium	heart
2	chr19:36436200-36449000	Weak transcription	Spleen	Spleen
3	chr19:36436600-36448200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:36437600-36445600	Weak transcription	Fetal Brain Female	brain
5	chr19:36443000-36447200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:36443200-36446600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:36444000-36445400	Enhancers	Dnd41	blood
8	chr19:36444400-36446200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:36444600-36445400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:36444600-36445600	Enhancers	Thymus	Thymus
11	chr19:36444600-36446200	Weak transcription	Primary B cells from cord blood	blood
12	chr19:36444800-36446600	Enhancers	Primary T cells from cord blood	blood
13	chr19:36445000-36446200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr19:36445000-36447000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:36445000-36447000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:36445000-36447200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:36445000-36447200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:36445000-36447400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr19:36445000-36448000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr19:36445000-36449600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:36445200-36446800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr19:36445200-36447400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr19:36445200-36447800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr19:36445200-36449600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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