Variant report

Variant	nsv961213
Chromosome Location	chr19:36813769-36814380
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	POLR2A	chr19:36813278-36813807	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr19:36814270-36814515	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:36814361-36814475	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:36813413-36813865	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LINC00665	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547108791	chr19:36813781-36813782	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150040156	chr19:36813786-36813787	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs191472325	chr19:36813825-36813826	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554611583	chr19:36813850-36813851	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569683524	chr19:36813871-36813872	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576322070	chr19:36813880-36813881	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537215915	chr19:36813925-36813926	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554225871	chr19:36813932-36813933	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs145399728	chr19:36813937-36813938	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2972631	chr19:36813972-36813973	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs559533938	chr19:36813985-36813986	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564840939	chr19:36814018-36814019	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574728663	chr19:36814038-36814039	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541966893	chr19:36814063-36814064	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532167672	chr19:36814131-36814132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149230591	chr19:36814177-36814178	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs142267554	chr19:36814206-36814207	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564321822	chr19:36814224-36814225	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2972630	chr19:36814233-36814234	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs183593268	chr19:36814263-36814264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565550986	chr19:36814299-36814300	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs59381108	chr19:36814304-36814305	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569162045	chr19:36814310-36814311	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536595593	chr19:36814314-36814315	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs17639717	chr19:36814379-36814380	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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
Breast cancer	21509527	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36799400-36816400	Weak transcription	Primary T cells from cord blood	blood
2	chr19:36800600-36816400	Weak transcription	Ovary	ovary
3	chr19:36800600-36816600	Weak transcription	Spleen	Spleen
4	chr19:36800800-36816400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:36800800-36822000	Weak transcription	Psoas Muscle	Psoas
6	chr19:36801000-36816400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:36801200-36814400	Weak transcription	Primary B cells from cord blood	blood
8	chr19:36801200-36816000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:36801200-36816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:36801200-36816400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:36801200-36816400	Weak transcription	Adipose Nuclei	Adipose
12	chr19:36801200-36816600	Weak transcription	Right Ventricle	heart
13	chr19:36801200-36817000	Weak transcription	Brain Anterior Caudate	brain
14	chr19:36801200-36817000	Weak transcription	Fetal Kidney	kidney
15	chr19:36801200-36817600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:36802200-36815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:36802800-36816400	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:36804000-36820600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:36804800-36820800	Weak transcription	Brain Angular Gyrus	brain
20	chr19:36805000-36816600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:36805200-36816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:36805400-36822000	Weak transcription	HSMMtube	muscle
23	chr19:36805600-36815800	Weak transcription	NHEK	skin
24	chr19:36805800-36815200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:36805800-36815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:36805800-36815800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:36805800-36816400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:36805800-36821000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr19:36806400-36820600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:36806600-36821000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:36806600-36822000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:36806800-36820000	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr19:36807000-36816400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:36808200-36816400	Weak transcription	Osteobl	bone
35	chr19:36808600-36820000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr19:36809000-36813800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr19:36810000-36816600	Weak transcription	Colon Smooth Muscle	Colon
38	chr19:36810000-36820200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:36810400-36814000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:36810400-36820800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:36810600-36814200	Weak transcription	NH-A	brain
42	chr19:36810600-36814600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:36810600-36816200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr19:36810600-36816400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:36810600-36816400	Weak transcription	Fetal Intestine Large	intestine
46	chr19:36810600-36816600	Weak transcription	Esophagus	oesophagus
47	chr19:36810600-36820600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:36810800-36814400	Weak transcription	Fetal Intestine Small	intestine
49	chr19:36810800-36816400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:36810800-36816600	Weak transcription	Placenta	Placenta

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