Variant report

Variant	esv3318519
Chromosome Location	chr19:35660887-35665907
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
2	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
3	chr19:35644439..35646610-chr19:35662548..35664453,2	MCF-7	breast:
4	chr19:35662646..35664738-chr19:35675000..35677629,2	K562	blood:
5	chr19:35659165..35661294-chr19:35670153..35671780,2	K562	blood:
6	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
7	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
8	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
9	chr19:35662152..35664028-chr19:35739883..35742034,2	K562	blood:
10	chr19:35662127..35664028-chr19:35738687..35742034,3	K562	blood:
11	chr19:35665363..35668225-chr19:35738724..35741368,2	K562	blood:
12	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
13	chr19:35660696..35663351-chr19:35770755..35773033,2	K562	blood:
14	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105697	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000089327	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:225 , 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	rs543239289	chr19:35660901-35660902	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563528480	chr19:35660915-35660916	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs62111374	chr19:35660919-35660920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374279668	chr19:35660951-35660952	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs59975720	chr19:35660954-35660955	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs561116687	chr19:35660965-35660966	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs151049011	chr19:35661007-35661008	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528044821	chr19:35661045-35661046	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551442832	chr19:35661107-35661108	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564758884	chr19:35661112-35661113	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140985552	chr19:35661131-35661132	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184671217	chr19:35661139-35661140	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570201308	chr19:35661235-35661236	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112942964	chr19:35661331-35661332	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150222371	chr19:35661403-35661404	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77103900	chr19:35661449-35661450	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188336590	chr19:35661474-35661475	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565884977	chr19:35661481-35661482	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534691261	chr19:35661493-35661494	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557765867	chr19:35661562-35661563	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147812566	chr19:35661568-35661569	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537324775	chr19:35661573-35661574	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565579244	chr19:35661580-35661581	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141358077	chr19:35661591-35661592	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191191428	chr19:35661601-35661602	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147001654	chr19:35661604-35661605	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138181724	chr19:35661643-35661644	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143777187	chr19:35661644-35661645	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184110648	chr19:35661648-35661649	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537110070	chr19:35661663-35661664	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564899850	chr19:35661666-35661667	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35238746	chr19:35661680-35661681	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550384575	chr19:35661731-35661732	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553456624	chr19:35661764-35661765	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563834134	chr19:35661765-35661766	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7249921	chr19:35661787-35661788	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs115716812	chr19:35661789-35661790	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565821713	chr19:35661811-35661812	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116166540	chr19:35661814-35661815	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117476373	chr19:35661837-35661838	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377126482	chr19:35661865-35661866	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200945340	chr19:35661889-35661890	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377228727	chr19:35661892-35661893	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12981475	chr19:35661906-35661907	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12981515	chr19:35661951-35661952	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10588120	chr19:35662032-35662033	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35758274	chr19:35662037-35662038	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs36046353	chr19:35662039-35662040	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143020877	chr19:35662072-35662073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557035609	chr19:35662100-35662101	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Gastric cancer	18160780	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35648000-35661600	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:35652000-35661800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
6	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:35653800-35661400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
9	chr19:35655600-35661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:35657400-35662200	Weak transcription	Small Intestine	intestine
11	chr19:35657400-35663200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:35657600-35661800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:35657600-35663000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:35657800-35661200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr19:35657800-35661400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:35657800-35661800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:35657800-35661800	Strong transcription	NHLF	lung
19	chr19:35657800-35662800	Weak transcription	Fetal Intestine Large	intestine
20	chr19:35657800-35663400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
24	chr19:35658000-35661000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:35658000-35661600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:35658000-35662600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:35658000-35667000	Weak transcription	HSMM	muscle
29	chr19:35658200-35662600	Weak transcription	HUVEC	blood vessel
30	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:35658200-35666800	Weak transcription	Osteobl	bone
32	chr19:35658400-35661600	Strong transcription	Spleen	Spleen
33	chr19:35658400-35661800	Strong transcription	Thymus	Thymus
34	chr19:35658400-35662600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:35658400-35663200	Weak transcription	Aorta	Aorta
36	chr19:35658400-35664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:35658800-35661400	Weak transcription	NHDF-Ad	bronchial
38	chr19:35658800-35661800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:35658800-35661800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:35658800-35662000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:35658800-35667200	Weak transcription	NH-A	brain
42	chr19:35659000-35661000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:35659000-35661200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr19:35659200-35661000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr19:35659200-35661000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:35659200-35661600	Enhancers	Liver	Liver
47	chr19:35659200-35661800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:35659400-35661200	Weak transcription	Fetal Thymus	thymus
49	chr19:35659400-35662200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:35659400-35662200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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