Variant report

Variant	nsv978866
Chromosome Location	chr19:37813536-37814579
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	chr19:37807596..37810287-chr19:37811527..37815374,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF527-1	chr19:37814435-37814472	NONHSAT066101
2	lnc-ZNF527-1	chr19:37814435-37814472	NONHSAT066100
3	lnc-ZNF527-1	chr19:37814435-37814472	NONHSAT066103
4	lnc-ZNF527-1	chr19:37814435-37814472	NONHSAT066102

Variant related genes	Relation type
ENSG00000181666	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549867222	chr19:37813552-37813553	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532346054	chr19:37813604-37813605	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182037659	chr19:37813639-37813640	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532060757	chr19:37813641-37813642	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547028075	chr19:37813691-37813692	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370529618	chr19:37813794-37813795	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184597682	chr19:37813798-37813799	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536143982	chr19:37813851-37813852	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73930939	chr19:37813880-37813881	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200588655	chr19:37813883-37813884	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112727838	chr19:37813943-37813944	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189166504	chr19:37813967-37813968	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558702285	chr19:37813976-37813977	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574251181	chr19:37813980-37813981	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148821245	chr19:37813993-37813994	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111268523	chr19:37813994-37813995	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553408078	chr19:37814009-37814010	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35647382	chr19:37814019-37814020	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12986146	chr19:37814024-37814025	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs552569863	chr19:37814058-37814059	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34306276	chr19:37814062-37814063	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs386388967	chr19:37814067-37814068	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542528944	chr19:37814110-37814111	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs56743641	chr19:37814144-37814145	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575870016	chr19:37814163-37814164	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546111899	chr19:37814165-37814166	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564329736	chr19:37814173-37814174	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532119781	chr19:37814175-37814176	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs180707064	chr19:37814185-37814186	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558932097	chr19:37814212-37814213	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185479325	chr19:37814236-37814237	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529623812	chr19:37814246-37814247	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189995472	chr19:37814265-37814266	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114467305	chr19:37814341-37814342	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55850607	chr19:37814359-37814360	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552449000	chr19:37814381-37814382	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570615554	chr19:37814418-37814419	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181582434	chr19:37814473-37814474	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553471227	chr19:37814477-37814478	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574912027	chr19:37814481-37814482	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34733527	chr19:37814526-37814527	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535512102	chr19:37814535-37814536	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568676811	chr19:37814566-37814567	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37809200-37815800	Weak transcription	Gastric	stomach
2	chr19:37809200-37815800	Weak transcription	Spleen	Spleen
3	chr19:37809200-37818800	Weak transcription	Esophagus	oesophagus
4	chr19:37809200-37824800	Weak transcription	Stomach Mucosa	stomach
5	chr19:37809400-37814400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:37809400-37814400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:37809400-37815800	Weak transcription	Aorta	Aorta
8	chr19:37809400-37825000	Weak transcription	Fetal Thymus	thymus
9	chr19:37809400-37825000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:37809600-37815600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:37809600-37816000	Weak transcription	Psoas Muscle	Psoas
12	chr19:37809600-37819200	Weak transcription	Brain Substantia Nigra	brain
13	chr19:37809600-37819400	Weak transcription	Pancreas	Pancrea
14	chr19:37809600-37824400	Weak transcription	NHDF-Ad	bronchial
15	chr19:37809600-37825000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:37809800-37813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:37809800-37813800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:37809800-37813800	Weak transcription	Fetal Intestine Large	intestine
19	chr19:37809800-37814400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:37809800-37814600	Weak transcription	Placenta	Placenta
21	chr19:37809800-37815800	Weak transcription	Thymus	Thymus
22	chr19:37809800-37816600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:37809800-37818400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:37809800-37820000	Weak transcription	HMEC	breast
25	chr19:37810000-37814200	Weak transcription	Ovary	ovary
26	chr19:37810000-37814400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr19:37810000-37814400	Weak transcription	Osteobl	bone
28	chr19:37810000-37814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:37810000-37814600	Weak transcription	HSMMtube	muscle
30	chr19:37810000-37818400	Weak transcription	HUVEC	blood vessel
31	chr19:37810000-37819000	Weak transcription	Fetal Brain Female	brain
32	chr19:37810000-37819400	Weak transcription	Brain Germinal Matrix	brain
33	chr19:37810000-37819400	Weak transcription	NHEK	skin
34	chr19:37810000-37820000	Weak transcription	NHLF	lung
35	chr19:37810000-37825000	Weak transcription	Hela-S3	cervix
36	chr19:37810200-37813800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:37810200-37814600	Weak transcription	Right Atrium	heart
38	chr19:37810200-37815800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:37810200-37821800	ZNF genes & repeats	A549	lung
40	chr19:37810400-37813800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:37810400-37818400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:37810400-37821000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:37810400-37821600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:37810600-37813800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:37810600-37815800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:37810600-37818400	Weak transcription	Primary B cells from cord blood	blood
47	chr19:37810600-37824400	Weak transcription	Small Intestine	intestine
48	chr19:37810600-37824800	Weak transcription	Fetal Heart	heart
49	chr19:37810800-37814400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:37810800-37814600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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