Variant report

Variant	esv10132
Chromosome Location	chr19:23856710-23866035
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	chr19:23865183..23867116-chr19:23868642..23870620,2	MCF-7	breast:
2	chr19:23846178..23848550-chr19:23856528..23858347,2	K562	blood:
3	chr19:23862169..23863759-chr19:23865204..23869096,3	K562	blood:
4	chr19:23864035..23867567-chr19:23868052..23870516,3	K562	blood:
5	chr19:23858949..23860753-chr19:23868653..23870197,2	K562	blood:
6	chr19:23862169..23863759-chr19:23865204..23869096,3	K562	blood:
7	chr19:23859469..23861719-chr19:23863257..23865886,2	K562	blood:
8	chr19:23862120..23864692-chr19:23868183..23870195,2	MCF-7	breast:
9	chr19:23859469..23861719-chr19:23863257..23865886,2	K562	blood:
10	chr19:23861116..23863669-chr19:23863772..23867457,3	K562	blood:
11	chr19:23861116..23863669-chr19:23863772..23867457,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197372	chromatin interactions

Extended variants
information (count: 346 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140190202	chr19:23856727-23856728	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550409539	chr19:23856763-23856764	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188466547	chr19:23856802-23856803	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs7260429	chr19:23856831-23856832	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563959291	chr19:23856861-23856862	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537726578	chr19:23856872-23856873	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs556652713	chr19:23856930-23856931	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs149659535	chr19:23856932-23856933	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7260539	chr19:23856937-23856938	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547120958	chr19:23856939-23856940	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185349605	chr19:23856951-23856952	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs540140374	chr19:23856954-23856955	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114983992	chr19:23856984-23856985	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12971299	chr19:23857025-23857026	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556328859	chr19:23857069-23857070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375011814	chr19:23857072-23857073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189802350	chr19:23857136-23857137	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs10854074	chr19:23857209-23857210	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182428474	chr19:23857239-23857240	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574090687	chr19:23857256-23857257	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12972061	chr19:23857272-23857273	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553093034	chr19:23857278-23857279	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs147601723	chr19:23857302-23857303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553538961	chr19:23857338-23857339	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545705283	chr19:23857347-23857348	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564071940	chr19:23857372-23857373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs539031325	chr19:23857377-23857378	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113455252	chr19:23857382-23857383	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374642755	chr19:23857419-23857420	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs398120901	chr19:23857431-23857432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs561816122	chr19:23857452-23857453	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs7249018	chr19:23857458-23857459	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6511488	chr19:23857513-23857514	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6511489	chr19:23857535-23857536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111997776	chr19:23857597-23857598	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138891411	chr19:23857633-23857634	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552088856	chr19:23857639-23857640	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200783142	chr19:23857645-23857646	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199628076	chr19:23857649-23857650	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537631195	chr19:23857677-23857678	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147434513	chr19:23857681-23857682	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs367555893	chr19:23857699-23857700	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534826284	chr19:23857711-23857712	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553296282	chr19:23857714-23857715	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577597555	chr19:23857716-23857717	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554869790	chr19:23857757-23857758	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs72540875	chr19:23857786-23857787	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs66595848	chr19:23857787-23857788	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545030653	chr19:23857816-23857817	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79723238	chr19:23857831-23857832	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23832600-23865800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:23835200-23857200	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:23841400-23869200	Weak transcription	Gastric	stomach
4	chr19:23845000-23864000	Weak transcription	Brain Substantia Nigra	brain
5	chr19:23845400-23868200	Weak transcription	HSMM	muscle
6	chr19:23845600-23867600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:23845600-23868200	Weak transcription	Hela-S3	cervix
8	chr19:23845600-23868400	Weak transcription	Fetal Kidney	kidney
9	chr19:23845800-23863800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:23845800-23864000	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:23845800-23869000	Weak transcription	Placenta	Placenta
12	chr19:23846000-23868600	Weak transcription	Brain Anterior Caudate	brain
13	chr19:23846400-23863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:23846600-23868400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:23847800-23863800	Weak transcription	K562	blood
16	chr19:23848600-23869000	Weak transcription	Aorta	Aorta
17	chr19:23849400-23861400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:23849600-23864000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:23849600-23868200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:23849800-23863800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:23849800-23868200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:23849800-23868200	Weak transcription	HSMMtube	muscle
23	chr19:23849800-23868400	Weak transcription	HMEC	breast
24	chr19:23850000-23863800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:23850800-23857400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:23850800-23858400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr19:23850800-23861200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr19:23851800-23857000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:23852000-23869200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:23852200-23858800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:23852200-23864000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:23852200-23867800	Weak transcription	Ovary	ovary
33	chr19:23852200-23869200	Weak transcription	Esophagus	oesophagus
34	chr19:23852400-23868000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr19:23853000-23865200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:23853200-23865200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:23853200-23868200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr19:23853400-23867200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:23853600-23869400	Weak transcription	Spleen	Spleen
40	chr19:23854400-23864000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:23855200-23860600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:23855800-23856800	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr19:23855800-23857200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr19:23856000-23860600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:23856000-23863800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr19:23856200-23857400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr19:23856200-23864000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:23856400-23856800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:23856400-23857800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:23856400-23857800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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