Variant report

Variant	esv3378502
Chromosome Location	chr19:37332338-37332659
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	chr19:37332133..37336118-chr19:37338996..37342341,4	MCF-7	breast:
2	chr19:37331659..37333471-chr19:37334083..37336419,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197863	chromatin interactions
ENSG00000251247	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190508022	chr19:37332385-37332386	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570416520	chr19:37332414-37332415	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528098679	chr19:37332429-37332430	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113968228	chr19:37332448-37332449	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546544446	chr19:37332487-37332488	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs145043990	chr19:37332526-37332527	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535418077	chr19:37332528-37332529	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556727367	chr19:37332558-37332559	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568757599	chr19:37332559-37332560	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539499454	chr19:37332587-37332588	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369700621	chr19:37332604-37332605	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376146438	chr19:37332633-37332634	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557837225	chr19:37332654-37332655	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37329800-37333800	Weak transcription	Ovary	ovary
2	chr19:37329800-37334000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr19:37329800-37334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:37329800-37334000	Weak transcription	Thymus	Thymus
5	chr19:37329800-37337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:37329800-37339000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:37329800-37339600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:37329800-37339600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:37330000-37333600	Weak transcription	Primary T cells from cord blood	blood
10	chr19:37330000-37333800	Weak transcription	NH-A	brain
11	chr19:37330000-37334000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:37330000-37334000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr19:37330000-37334000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:37330000-37334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:37330000-37334000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:37330000-37334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:37330000-37334000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:37330000-37334000	Weak transcription	Brain Substantia Nigra	brain
19	chr19:37330000-37334000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr19:37330000-37334000	Weak transcription	Fetal Muscle Leg	muscle
21	chr19:37330000-37334000	Weak transcription	Left Ventricle	heart
22	chr19:37330000-37334000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:37330000-37334200	Weak transcription	Fetal Stomach	stomach
24	chr19:37330000-37334200	Weak transcription	Pancreas	Pancrea
25	chr19:37330000-37334400	Weak transcription	Esophagus	oesophagus
26	chr19:37330000-37335000	Weak transcription	Fetal Thymus	thymus
27	chr19:37330000-37335200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:37330000-37336400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr19:37330000-37339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:37330000-37340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:37330000-37340000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:37330000-37340000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr19:37330000-37340000	Weak transcription	Fetal Brain Male	brain
34	chr19:37330000-37340000	Weak transcription	Right Ventricle	heart
35	chr19:37330000-37340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:37330000-37340400	Weak transcription	Colonic Mucosa	Colon
37	chr19:37330000-37340400	Weak transcription	Placenta	Placenta
38	chr19:37330000-37340400	Weak transcription	Stomach Mucosa	stomach
39	chr19:37330000-37340600	Weak transcription	Gastric	stomach
40	chr19:37330000-37340600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:37330000-37340600	Weak transcription	Spleen	Spleen
42	chr19:37330000-37340600	Weak transcription	HSMM	muscle
43	chr19:37330200-37332800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr19:37330200-37332800	Weak transcription	Fetal Intestine Large	intestine
45	chr19:37330200-37334000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:37330200-37334000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:37330200-37334000	Weak transcription	HUVEC	blood vessel
48	chr19:37330200-37334200	Weak transcription	Brain Germinal Matrix	brain
49	chr19:37330200-37334200	Weak transcription	Fetal Brain Female	brain
50	chr19:37330200-37334400	Weak transcription	Rectal Mucosa Donor 29	rectum

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