Variant report

Variant	esv3380994
Chromosome Location	chr19:35789962-35792160
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35785237..35787422-chr19:35789802..35791961,2	MCF-7	breast:
2	chr19:35785339..35786931-chr19:35792153..35795089,3	MCF-7	breast:
3	chr19:35791001..35793580-chr19:35794123..35796268,2	MCF-7	breast:
4	chr19:35788326..35791177-chr19:35803354..35807024,3	MCF-7	breast:
5	chr19:35757970..35762827-chr19:35790905..35794858,6	K562	blood:
6	chr19:35792054..35793789-chr19:35826258..35829124,2	K562	blood:
7	chr19:35788362..35791092-chr19:35794304..35796037,2	MCF-7	breast:
8	chr19:35771240..35772791-chr19:35791910..35794645,2	MCF-7	breast:
9	chr19:35742830..35745421-chr19:35788824..35790578,2	MCF-7	breast:
10	chr19:35632256..35633808-chr19:35791539..35794333,2	K562	blood:
11	chr19:35740050..35742142-chr19:35790657..35792710,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105698	chromatin interactions
ENSG00000271366	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000105697	chromatin interactions
ENSG00000153902	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35981904	chr19:35789966-35789967	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563888989	chr19:35789971-35789972	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573802431	chr19:35789995-35789996	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542576196	chr19:35790044-35790045	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559121221	chr19:35790176-35790177	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527982892	chr19:35790186-35790187	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565593898	chr19:35790210-35790211	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564448170	chr19:35790248-35790249	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532831451	chr19:35790285-35790286	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533303134	chr19:35790351-35790352	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549980682	chr19:35790369-35790370	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569776888	chr19:35790373-35790374	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537812224	chr19:35790391-35790392	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549339621	chr19:35790394-35790395	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373930480	chr19:35790417-35790418	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375946312	chr19:35790445-35790446	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200376511	chr19:35790446-35790447	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200245689	chr19:35790450-35790451	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201540589	chr19:35790454-35790455	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs202205105	chr19:35790480-35790481	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144553163	chr19:35790493-35790494	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs3746248	chr19:35790503-35790504	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs571568846	chr19:35790509-35790510	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537215744	chr19:35790512-35790513	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199813139	chr19:35790513-35790514	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200431991	chr19:35790546-35790547	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201415296	chr19:35790547-35790548	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199606240	chr19:35790552-35790553	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200640485	chr19:35790554-35790555	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201920156	chr19:35790578-35790579	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199740322	chr19:35790636-35790637	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200695849	chr19:35790641-35790642	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs36055167	chr19:35790644-35790645	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11084810	chr19:35790645-35790646	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368383840	chr19:35790662-35790663	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373301414	chr19:35790674-35790675	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200984385	chr19:35790687-35790688	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201508876	chr19:35790693-35790694	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199895804	chr19:35790698-35790699	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201129547	chr19:35790722-35790723	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs202166521	chr19:35790726-35790727	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373129536	chr19:35790747-35790748	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113955851	chr19:35790805-35790806	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs36000294	chr19:35790813-35790814	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544991818	chr19:35790826-35790827	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558125119	chr19:35790912-35790913	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564408607	chr19:35791011-35791012	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200498067	chr19:35791027-35791028	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376042744	chr19:35791039-35791040	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200985141	chr19:35791046-35791047	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS	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:72 , 50 per page) page: 1 2

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	chr19:35785200-35790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:35787200-35790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:35787200-35790600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:35787800-35790400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:35788200-35790000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:35788200-35791800	Genic enhancers	Brain Substantia Nigra	brain
9	chr19:35788400-35790000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr19:35788800-35791400	Genic enhancers	Brain Inferior Temporal Lobe	brain
11	chr19:35788800-35795000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:35789000-35790000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:35789000-35790000	Genic enhancers	Brain Hippocampus Middle	brain
14	chr19:35789000-35790000	ZNF genes & repeats	Esophagus	oesophagus
15	chr19:35789200-35790000	Enhancers	Pancreas	Pancrea
16	chr19:35789200-35793400	Weak transcription	Spleen	Spleen
17	chr19:35789200-35796800	Genic enhancers	Brain Cingulate Gyrus	brain
18	chr19:35789400-35790200	Genic enhancers	Brain Angular Gyrus	brain
19	chr19:35789400-35794600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:35789600-35790000	Active TSS	Fetal Kidney	kidney
21	chr19:35789600-35790200	Genic enhancers	Brain Anterior Caudate	brain
22	chr19:35789600-35790400	Enhancers	K562	blood
23	chr19:35789600-35796200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:35789600-35796600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:35789800-35790000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:35789800-35791200	Weak transcription	Gastric	stomach
27	chr19:35790000-35790200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr19:35790000-35790200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:35790000-35790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:35790000-35791000	Weak transcription	Pancreas	Pancrea
31	chr19:35790000-35791200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:35790000-35797800	Weak transcription	Fetal Kidney	kidney
33	chr19:35790200-35791000	Enhancers	Brain Hippocampus Middle	brain
34	chr19:35790200-35791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:35790200-35792200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr19:35790200-35794000	Weak transcription	Brain Anterior Caudate	brain
37	chr19:35790200-35794200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:35790200-35796400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:35790400-35790600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:35790400-35790600	Flanking Active TSS	K562	blood
41	chr19:35790400-35791600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:35790400-35792200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:35790600-35790800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
44	chr19:35790600-35791000	Enhancers	K562	blood
45	chr19:35790600-35791200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr19:35790600-35791200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:35790800-35791000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr19:35791000-35791200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr19:35791000-35791200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr19:35791000-35791200	Weak transcription	Brain Hippocampus Middle	brain

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