Variant report

Variant	nsv960764
Chromosome Location	chr19:57007653-57012055
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	chr19:57002795..57005630-chr19:57006374..57008169,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC004696.1-1	chr19:57011463-57012035	ENSG00000166770.6
2	lnc-AC004696.1-1	chr19:57008670-57008818	ENSG00000166770.6

Extended variants
information (count: 156 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529589760	chr19:57007676-57007677	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191056229	chr19:57007708-57007709	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559930622	chr19:57007714-57007715	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528643212	chr19:57007741-57007742	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551872332	chr19:57007742-57007743	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201079347	chr19:57007754-57007755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374443964	chr19:57007765-57007766	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545284910	chr19:57007774-57007775	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537449847	chr19:57007785-57007786	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7246847	chr19:57007806-57007807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371299595	chr19:57007852-57007853	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544615295	chr19:57007856-57007857	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7249867	chr19:57007868-57007869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535773894	chr19:57007878-57007879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555341584	chr19:57007883-57007884	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183900764	chr19:57007959-57007960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7249981	chr19:57007991-57007992	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs543484103	chr19:57008005-57008006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112766342	chr19:57008043-57008044	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34000664	chr19:57008056-57008057	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557415646	chr19:57008074-57008075	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60141587	chr19:57008119-57008120	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs573286807	chr19:57008125-57008126	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375593181	chr19:57008126-57008127	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10409168	chr19:57008134-57008135	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs559767793	chr19:57008202-57008203	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372953620	chr19:57008211-57008212	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559529102	chr19:57008276-57008277	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188742559	chr19:57008304-57008305	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371615745	chr19:57008309-57008310	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4801166	chr19:57008320-57008321	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565464553	chr19:57008343-57008344	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142155833	chr19:57008359-57008360	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113889964	chr19:57008360-57008361	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4801167	chr19:57008374-57008375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192810272	chr19:57008376-57008377	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112384054	chr19:57008461-57008462	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565797973	chr19:57008463-57008464	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534909630	chr19:57008494-57008495	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77608256	chr19:57008526-57008527	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs4801329	chr19:57008548-57008549	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536784635	chr19:57008646-57008647	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs531713887	chr19:57008672-57008673	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs184230360	chr19:57008781-57008782	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs376906847	chr19:57008783-57008784	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs532926078	chr19:57008835-57008836	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542169409	chr19:57008845-57008846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369927373	chr19:57008850-57008851	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187148232	chr19:57008903-57008904	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12973195	chr19:57008917-57008918	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56990800-57010000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:56992000-57009400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr19:56992000-57009800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:56998600-57008800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:57003000-57018800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:57003200-57018400	Weak transcription	Osteobl	bone
7	chr19:57003600-57017000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:57003800-57011600	Weak transcription	Fetal Heart	heart
9	chr19:57004400-57008800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr19:57004600-57009400	ZNF genes & repeats	Ovary	ovary
11	chr19:57004600-57009600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:57004800-57007800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr19:57004800-57007800	Strong transcription	Right Ventricle	heart
14	chr19:57005200-57008000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:57005400-57007800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr19:57005400-57007800	Strong transcription	Left Ventricle	heart
17	chr19:57005400-57008400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:57005400-57008400	ZNF genes & repeats	Spleen	Spleen
19	chr19:57005400-57008600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr19:57005400-57009000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:57005400-57009200	ZNF genes & repeats	Aorta	Aorta
22	chr19:57005400-57010000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:57005600-57008000	ZNF genes & repeats	Fetal Lung	lung
24	chr19:57005600-57009600	Strong transcription	Brain Anterior Caudate	brain
25	chr19:57005800-57007800	Strong transcription	Brain Germinal Matrix	brain
26	chr19:57005800-57008000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:57006200-57007800	ZNF genes & repeats	Liver	Liver
28	chr19:57006200-57008000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr19:57006200-57018600	Weak transcription	Dnd41	blood
30	chr19:57006400-57007800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
31	chr19:57006400-57007800	Strong transcription	Fetal Kidney	kidney
32	chr19:57006600-57007800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr19:57006600-57008000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:57006600-57009000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:57006600-57009400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr19:57006600-57009800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:57006800-57007800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:57006800-57007800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:57006800-57007800	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr19:57006800-57007800	ZNF genes & repeats	Esophagus	oesophagus
41	chr19:57006800-57007800	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr19:57006800-57007800	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr19:57006800-57008000	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr19:57006800-57008000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
45	chr19:57006800-57008400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:57006800-57008400	ZNF genes & repeats	Fetal Stomach	stomach
47	chr19:57006800-57008600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr19:57006800-57009800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr19:57007000-57007800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:57007000-57007800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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