Variant report

Variant	esv3354293
Chromosome Location	chr19:21903137-21905685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr19:21905467-21905549	HepG2	liver:	n/a	n/a
2	NR2F2	chr19:21904969-21905517	K562	blood:	n/a	n/a
3	NR2F2	chr19:21905075-21905494	K562	blood:	n/a	n/a
4	PBX3	chr19:21905459-21905557	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:21905643-21910435	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21902370..21903935-chr19:21904955..21907289,2	K562	blood:

Variant related genes	Relation type
VN1R84P	TF binding region
ENSG00000268117	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199601964	chr19:21903243-21903244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111334395	chr19:21903324-21903325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112309513	chr19:21903497-21903498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535940767	chr19:21903875-21903876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371611563	chr19:21904123-21904124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62110798	chr19:21904174-21904175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375585038	chr19:21904507-21904508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368227183	chr19:21904528-21904529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556354393	chr19:21904555-21904556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372437049	chr19:21904781-21904782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376729752	chr19:21904854-21904855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368010316	chr19:21905028-21905029	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs9749348	chr19:21905052-21905053	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
14	rs375958950	chr19:21905075-21905076	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368157106	chr19:21905148-21905149	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369848155	chr19:21905209-21905210	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557289548	chr19:21905343-21905344	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373526717	chr19:21905381-21905382	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375485872	chr19:21905422-21905423	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs9749475	chr19:21905479-21905480	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370816174	chr19:21905512-21905513	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368714479	chr19:21905537-21905538	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs9749518	chr19:21905538-21905539	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs4809174	chr19:21905553-21905554	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201029943	chr19:21905564-21905565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201835335	chr19:21905565-21905566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201944253	chr19:21905566-21905567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200973118	chr19:21905567-21905568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115218875	chr19:21905585-21905586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371590182	chr19:21905616-21905617	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21900800-21906200	Weak transcription	Dnd41	blood
2	chr19:21902800-21905600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:21902800-21906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr19:21903400-21907600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:21904800-21908800	Weak transcription	HSMM	muscle
6	chr19:21905000-21907600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:21905000-21909600	Weak transcription	Fetal Brain Male	brain
8	chr19:21905200-21909600	Weak transcription	Brain Angular Gyrus	brain
9	chr19:21905200-21909600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:21905400-21909400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:21905600-21906200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:21905600-21947200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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