Variant report

Variant	esv1847659
Chromosome Location	chr19:23811405-23836035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23829651..23831958-chr19:23839297..23841446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197372	chromatin interactions

Extended variants
information (count: 506 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184154255	chr19:23813874-23813875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112719586	chr19:23813917-23813918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530001443	chr19:23813947-23813948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374484213	chr19:23814050-23814051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548555419	chr19:23814055-23814056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566854497	chr19:23814080-23814081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs797787	chr19:23814087-23814088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534583713	chr19:23814097-23814098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552884059	chr19:23814106-23814107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548331165	chr19:23814113-23814114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571078014	chr19:23814179-23814180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535758447	chr19:23814232-23814233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181864486	chr19:23814297-23814298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538469923	chr19:23814309-23814310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73563079	chr19:23814312-23814313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7250729	chr19:23814336-23814337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575286939	chr19:23814361-23814362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs797786	chr19:23814365-23814366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554525816	chr19:23814366-23814367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572907554	chr19:23814377-23814378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142472417	chr19:23814417-23814418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115659776	chr19:23814431-23814432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549222341	chr19:23814545-23814546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374015025	chr19:23814562-23814563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376048724	chr19:23814563-23814564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35446969	chr19:23814564-23814565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59699926	chr19:23814582-23814583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11672109	chr19:23814589-23814590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369427821	chr19:23814604-23814605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185353876	chr19:23814716-23814717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189886461	chr19:23814718-23814719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143323227	chr19:23814733-23814734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs797785	chr19:23814749-23814750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527697503	chr19:23814782-23814783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546463966	chr19:23814832-23814833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73563080	chr19:23814854-23814855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538408294	chr19:23814866-23814867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115902556	chr19:23814902-23814903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138348127	chr19:23814970-23814971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536326896	chr19:23814972-23814973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142345895	chr19:23814973-23814974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182417828	chr19:23814991-23814992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117664133	chr19:23815009-23815010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533772348	chr19:23815026-23815027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559253578	chr19:23815040-23815041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144618322	chr19:23815071-23815072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544627238	chr19:23815077-23815078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186314100	chr19:23815082-23815083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574968149	chr19:23815140-23815141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189998492	chr19:23815144-23815145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23813800-23817200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:23828000-23838800	Weak transcription	Stomach Mucosa	stomach
3	chr19:23831400-23831800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr19:23831800-23832400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr19:23832200-23835600	Weak transcription	HSMM	muscle
6	chr19:23832400-23833000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:23832400-23833600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:23832600-23834200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:23832600-23835400	Weak transcription	Fetal Brain Male	brain
10	chr19:23832600-23865800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:23832800-23833000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:23832800-23833000	ZNF genes & repeats	Placenta	Placenta
13	chr19:23832800-23833000	Enhancers	K562	blood
14	chr19:23833000-23835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:23833000-23835200	Weak transcription	Fetal Lung	lung
16	chr19:23833000-23836400	Weak transcription	Placenta	Placenta
17	chr19:23833000-23836600	Weak transcription	K562	blood
18	chr19:23833200-23836200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:23833400-23849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:23833600-23834200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:23833600-23835200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:23833800-23835400	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:23833800-23836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:23833800-23849600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:23834000-23842600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr19:23834200-23834600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:23834400-23836000	Weak transcription	NH-A	brain
28	chr19:23834400-23836600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:23834600-23834800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:23834600-23839800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr19:23834600-23840800	Weak transcription	Brain Anterior Caudate	brain
32	chr19:23834800-23835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:23834800-23836400	Weak transcription	Fetal Thymus	thymus
34	chr19:23834800-23836400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:23834800-23838000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:23835000-23835200	Weak transcription	Fetal Stomach	stomach
37	chr19:23835000-23836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:23835000-23836600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr19:23835000-23846000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:23835200-23835400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:23835200-23835400	ZNF genes & repeats	Fetal Stomach	stomach
42	chr19:23835200-23836200	Weak transcription	Left Ventricle	heart
43	chr19:23835200-23838800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:23835200-23841400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:23835200-23842400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr19:23835200-23843000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:23835200-23843200	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr19:23835200-23845200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr19:23835200-23845600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:23835200-23846400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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