Variant report

Variant	esv3452034
Chromosome Location	chr19:35786812-35790910
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35759682..35761822-chr19:35786505..35788212,2	K562	blood:
2	chr19:35786171..35788602-chr19:35798806..35801714,2	MCF-7	breast:
3	chr19:35785339..35786931-chr19:35792153..35795089,3	MCF-7	breast:
4	chr19:35775409..35778067-chr19:35786470..35789278,2	K562	blood:
5	chr19:35644869..35647313-chr19:35785254..35786934,2	K562	blood:
6	chr19:35742830..35745421-chr19:35788824..35790578,2	MCF-7	breast:
7	chr19:35788362..35791092-chr19:35794304..35796037,2	MCF-7	breast:
8	chr19:35740050..35742142-chr19:35790657..35792710,2	K562	blood:
9	chr19:35785237..35787422-chr19:35789802..35791961,2	MCF-7	breast:
10	chr19:35788326..35791177-chr19:35803354..35807024,3	MCF-7	breast:
11	chr19:35785237..35787422-chr19:35789802..35791961,2	MCF-7	breast:
12	chr19:35739731..35741456-chr19:35787109..35788672,2	K562	blood:
13	chr19:35757970..35762827-chr19:35790905..35794858,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105695	chromatin interactions
ENSG00000089327	chromatin interactions
ENSG00000271366	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000105698	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs560572512	chr19:35786820-35786821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs149787869	chr19:35786852-35786853	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs375739959	chr19:35786867-35786868	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs2301600	chr19:35786868-35786869	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs200067718	chr19:35786870-35786871	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs113328438	chr19:35786878-35786879	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112357334	chr19:35786885-35786886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs368160883	chr19:35786893-35786894	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372083951	chr19:35786912-35786913	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201763311	chr19:35786913-35786914	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs370514585	chr19:35786928-35786929	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547985252	chr19:35786961-35786962	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567780776	chr19:35787025-35787026	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527414756	chr19:35787099-35787100	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547055713	chr19:35787102-35787103	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570474558	chr19:35787114-35787115	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538951292	chr19:35787122-35787123	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs559251493	chr19:35787158-35787159	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs569573151	chr19:35787193-35787194	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs191146874	chr19:35787261-35787262	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs111736597	chr19:35787313-35787314	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530896562	chr19:35787336-35787337	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs574822990	chr19:35787341-35787342	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs182612704	chr19:35787400-35787401	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs56312603	chr19:35787418-35787419	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553879424	chr19:35787447-35787448	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs138800673	chr19:35787526-35787527	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs545803010	chr19:35787565-35787566	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562397059	chr19:35787586-35787587	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs149380071	chr19:35787587-35787588	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs73031716	chr19:35787599-35787600	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73031717	chr19:35787609-35787610	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536576845	chr19:35787633-35787634	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs368426627	chr19:35787650-35787651	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs527391775	chr19:35787698-35787699	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs144529954	chr19:35787742-35787743	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs570461195	chr19:35787797-35787798	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs376640759	chr19:35787827-35787828	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs117708100	chr19:35787916-35787917	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549822513	chr19:35787938-35787939	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569540437	chr19:35787940-35787941	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs142591334	chr19:35787995-35787996	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs555181743	chr19:35788035-35788036	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs571924352	chr19:35788088-35788089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs55955849	chr19:35788115-35788116	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs398120975	chr19:35788117-35788118	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs568687571	chr19:35788179-35788180	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs539463050	chr19:35788195-35788196	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs367897514	chr19:35788215-35788216	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200781534	chr19:35788220-35788221	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
2	chr19:35784000-35790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:35784400-35787000	Enhancers	Fetal Lung	lung
4	chr19:35784800-35789600	Enhancers	Primary hematopoietic stem cells	blood
5	chr19:35785200-35788000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:35785200-35788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:35785200-35790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:35785400-35788200	Weak transcription	Brain Anterior Caudate	brain
9	chr19:35785600-35787000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr19:35785600-35788400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:35785800-35787200	Bivalent Enhancer	Placenta	Placenta
12	chr19:35785800-35788600	Enhancers	Primary B cells from cord blood	blood
13	chr19:35785800-35789600	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:35786000-35787000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr19:35786000-35787000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr19:35786200-35787000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:35786200-35787200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
18	chr19:35786200-35787400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:35786200-35787400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr19:35786200-35788400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr19:35786400-35787000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:35786400-35787200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr19:35786400-35787200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr19:35786400-35787200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:35786400-35787400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr19:35786400-35787400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:35786400-35787400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr19:35786400-35787400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr19:35786400-35787800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr19:35786400-35787800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr19:35786400-35788400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr19:35786400-35788600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:35786400-35788600	Enhancers	GM12878-XiMat	blood
34	chr19:35786600-35787000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:35786600-35787200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:35786600-35787200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:35786600-35787200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:35786600-35787200	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr19:35786600-35787200	Enhancers	Brain Substantia Nigra	brain
40	chr19:35786600-35788200	Weak transcription	Brain Angular Gyrus	brain
41	chr19:35786600-35788200	Enhancers	K562	blood
42	chr19:35786800-35787000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:35786800-35787000	Bivalent/Poised TSS	HepG2	liver
44	chr19:35786800-35787200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr19:35786800-35787200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr19:35786800-35787400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr19:35786800-35787400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr19:35786800-35787800	Enhancers	Fetal Thymus	thymus
49	chr19:35786800-35789400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr19:35787000-35787200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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