Variant report

Variant	esv3399211
Chromosome Location	chr19:35786312-35791010
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35791001..35793580-chr19:35794123..35796268,2	MCF-7	breast:
2	chr19:35644869..35647313-chr19:35785254..35786934,2	K562	blood:
3	chr19:35742830..35745421-chr19:35788824..35790578,2	MCF-7	breast:
4	chr19:35759682..35761822-chr19:35786505..35788212,2	K562	blood:
5	chr19:35788326..35791177-chr19:35803354..35807024,3	MCF-7	breast:
6	chr19:35788362..35791092-chr19:35794304..35796037,2	MCF-7	breast:
7	chr19:35785237..35787422-chr19:35789802..35791961,2	MCF-7	breast:
8	chr19:35785237..35787422-chr19:35789802..35791961,2	MCF-7	breast:
9	chr19:35786171..35788602-chr19:35798806..35801714,2	MCF-7	breast:
10	chr19:35785339..35786931-chr19:35792153..35795089,3	MCF-7	breast:
11	chr19:35739731..35741456-chr19:35787109..35788672,2	K562	blood:
12	chr19:35783695..35786395-chr19:35798679..35800837,2	K562	blood:
13	chr19:35740050..35742142-chr19:35790657..35792710,2	K562	blood:
14	chr19:35757970..35762827-chr19:35790905..35794858,6	K562	blood:
15	chr19:35775409..35778067-chr19:35786470..35789278,2	K562	blood:

No data

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

Extended variants
information (count: 224 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376929746	chr19:35786316-35786317	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149262142	chr19:35786325-35786326	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201625172	chr19:35786326-35786327	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147354231	chr19:35786329-35786330	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373580683	chr19:35786345-35786346	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200192210	chr19:35786362-35786363	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201229252	chr19:35786377-35786378	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376175813	chr19:35786381-35786382	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532456089	chr19:35786392-35786393	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs199790638	chr19:35786400-35786401	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373592019	chr19:35786414-35786415	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs552073048	chr19:35786438-35786439	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568741601	chr19:35786452-35786453	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537546335	chr19:35786457-35786458	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200578769	chr19:35786470-35786471	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201355497	chr19:35786471-35786472	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199802808	chr19:35786473-35786474	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370255945	chr19:35786489-35786490	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200850404	chr19:35786497-35786498	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201985530	chr19:35786499-35786500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199932400	chr19:35786511-35786512	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs147119099	chr19:35786512-35786513	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs201932537	chr19:35786514-35786515	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs137856043	chr19:35786522-35786523	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs200076895	chr19:35786528-35786529	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370825816	chr19:35786530-35786531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs201184040	chr19:35786538-35786539	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs202017359	chr19:35786553-35786554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs11550211	chr19:35786565-35786566	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs143777259	chr19:35786574-35786575	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201203478	chr19:35786577-35786578	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs540917777	chr19:35786580-35786581	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs201798784	chr19:35786585-35786586	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs374238503	chr19:35786589-35786590	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200281744	chr19:35786597-35786598	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs201061871	chr19:35786604-35786605	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201907391	chr19:35786614-35786615	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs200461020	chr19:35786617-35786618	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200065531	chr19:35786619-35786620	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs200718920	chr19:35786621-35786622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs201620798	chr19:35786632-35786633	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs199593777	chr19:35786654-35786655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs200682702	chr19:35786655-35786656	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs201532201	chr19:35786665-35786666	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs370462880	chr19:35786677-35786678	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201989331	chr19:35786679-35786680	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs199750254	chr19:35786682-35786683	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs200631477	chr19:35786685-35786686	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs142334011	chr19:35786697-35786698	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs140544202	chr19:35786699-35786700	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 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:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
2	chr19:35776200-35786400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:35784000-35786400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:35784000-35790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:35784400-35786400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:35784400-35787000	Enhancers	Fetal Lung	lung
7	chr19:35784800-35789600	Enhancers	Primary hematopoietic stem cells	blood
8	chr19:35785200-35788000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:35785200-35788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:35785200-35790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:35785400-35786400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:35785400-35786400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:35785400-35786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:35785400-35786600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:35785400-35786600	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
16	chr19:35785400-35788200	Weak transcription	Brain Anterior Caudate	brain
17	chr19:35785600-35786600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:35785600-35786600	Weak transcription	K562	blood
19	chr19:35785600-35787000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr19:35785600-35788400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:35785800-35786600	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr19:35785800-35787200	Bivalent Enhancer	Placenta	Placenta
23	chr19:35785800-35788600	Enhancers	Primary B cells from cord blood	blood
24	chr19:35785800-35789600	Enhancers	Primary B cells from peripheral blood	blood
25	chr19:35786000-35786800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:35786000-35787000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr19:35786000-35787000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr19:35786200-35786400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:35786200-35786400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:35786200-35786400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:35786200-35786400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:35786200-35786400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr19:35786200-35786600	Enhancers	Brain Angular Gyrus	brain
34	chr19:35786200-35786800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr19:35786200-35786800	Bivalent Enhancer	Fetal Thymus	thymus
36	chr19:35786200-35786800	Enhancers	Spleen	Spleen
37	chr19:35786200-35787000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:35786200-35787200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
39	chr19:35786200-35787400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:35786200-35787400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr19:35786200-35788400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr19:35786400-35786600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr19:35786400-35786600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:35786400-35786800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr19:35786400-35787000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:35786400-35787200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr19:35786400-35787200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr19:35786400-35787200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:35786400-35787400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr19:35786400-35787400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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