Variant report

Variant	nsv911656
Chromosome Location	chr19:38505037-38539988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38529387..38531297-chr19:38534097..38536082,2	MCF-7	breast:
2	chr19:38514808..38516815-chr19:38528383..38531251,2	MCF-7	breast:
3	chr19:38521721..38524146-chr19:38525357..38527212,2	K562	blood:
4	chr19:38531805..38534474-chr19:38544324..38547060,2	MCF-7	breast:
5	chr19:38525040..38526953-chr19:38535693..38538663,2	MCF-7	breast:
6	chr19:38535066..38537554-chr19:38539866..38542740,2	MCF-7	breast:
7	chr19:38529387..38531297-chr19:38534097..38536082,2	MCF-7	breast:
8	chr19:38440998..38442982-chr19:38537686..38540589,2	MCF-7	breast:
9	chr19:38504278..38506412-chr19:38570707..38572252,2	MCF-7	breast:
10	chr19:38393197..38393772-chr19:38535477..38535980,2	MCF-7	breast:
11	chr19:38537912..38540463-chr19:38546396..38548192,2	MCF-7	breast:
12	chr19:38508262..38510811-chr19:38514830..38516559,2	K562	blood:
13	chr19:38395411..38398481-chr19:38535356..38538945,3	MCF-7	breast:
14	chr19:38535066..38537554-chr19:38539866..38542740,2	MCF-7	breast:
15	chr19:38514808..38516815-chr19:38528383..38531251,2	MCF-7	breast:
16	chr19:38494462..38497126-chr19:38513514..38515017,2	MCF-7	breast:
17	chr19:38521721..38524146-chr19:38525357..38527212,2	K562	blood:
18	chr19:38525040..38526953-chr19:38535693..38538663,2	MCF-7	breast:
19	chr19:38392598..38394693-chr19:38535463..38537612,2	MCF-7	breast:
20	chr19:38508262..38510811-chr19:38514830..38516559,2	K562	blood:
21	chr19:38536919..38539857-chr19:38546336..38549033,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINT2-10	chr19:38519729-38519796	NONHSAT066182

No data

Variant related genes	Relation type
ENSG00000171804	chromatin interactions
ENSG00000221258	chromatin interactions
ENSG00000105738	chromatin interactions

Extended variants
information (count: 1316 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1316 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17309382	chr19:38505037-38505038	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181146877	chr19:38505126-38505127	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539158802	chr19:38505159-38505160	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558050774	chr19:38505166-38505167	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371958697	chr19:38505183-38505184	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117974342	chr19:38505184-38505185	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538120969	chr19:38505185-38505186	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568395360	chr19:38505207-38505208	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72101453	chr19:38505208-38505209	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573410113	chr19:38505261-38505262	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369308205	chr19:38505296-38505297	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11335709	chr19:38505313-38505314	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398034533	chr19:38505327-38505328	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186593321	chr19:38505332-38505333	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561948713	chr19:38505443-38505444	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562444270	chr19:38505466-38505467	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375994770	chr19:38505467-38505468	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569668938	chr19:38505500-38505501	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146394130	chr19:38505519-38505520	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544569312	chr19:38505573-38505574	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562891961	chr19:38505627-38505628	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537358537	chr19:38505644-38505645	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7258557	chr19:38505645-38505646	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs58879930	chr19:38505669-38505670	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76327169	chr19:38505696-38505697	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142811462	chr19:38505744-38505745	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546571112	chr19:38505755-38505756	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151028674	chr19:38505759-38505760	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189655149	chr19:38505855-38505856	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550123240	chr19:38505876-38505877	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567871085	chr19:38505923-38505924	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568545041	chr19:38505999-38506000	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116581014	chr19:38506030-38506031	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180863326	chr19:38506089-38506090	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573346865	chr19:38506135-38506136	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565341005	chr19:38506231-38506232	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534361725	chr19:38506344-38506345	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74176408	chr19:38506362-38506363	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386388980	chr19:38506383-38506384	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61325073	chr19:38506384-38506385	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200465120	chr19:38506385-38506386	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534937197	chr19:38506437-38506438	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139680638	chr19:38506438-38506439	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553519195	chr19:38506460-38506461	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574360237	chr19:38506481-38506482	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544937398	chr19:38506550-38506551	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78785401	chr19:38506557-38506558	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75721230	chr19:38506558-38506559	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185462279	chr19:38506585-38506586	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77314051	chr19:38506595-38506596	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1213 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38474800-38513600	Weak transcription	Gastric	stomach
2	chr19:38495400-38522800	Weak transcription	Aorta	Aorta
3	chr19:38495400-38526400	Weak transcription	Ovary	ovary
4	chr19:38495600-38509200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:38495600-38512800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr19:38495600-38513400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:38495600-38514200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:38495800-38510000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr19:38495800-38513400	Weak transcription	Stomach Mucosa	stomach
10	chr19:38496000-38505600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:38496200-38508000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:38496200-38508200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:38496200-38509400	Weak transcription	HSMMtube	muscle
14	chr19:38496200-38512600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:38496200-38513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:38496200-38513600	Weak transcription	Left Ventricle	heart
17	chr19:38496200-38513600	Weak transcription	Right Ventricle	heart
18	chr19:38496200-38513600	Weak transcription	NHEK	skin
19	chr19:38496200-38521400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr19:38496400-38510800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:38496400-38511000	Weak transcription	Brain Germinal Matrix	brain
22	chr19:38496400-38521400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:38496600-38513600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:38496600-38515600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:38496800-38506600	Weak transcription	Osteobl	bone
26	chr19:38496800-38509400	Weak transcription	HUVEC	blood vessel
27	chr19:38496800-38520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:38497000-38513400	Weak transcription	NHLF	lung
29	chr19:38497400-38511800	Weak transcription	NH-A	brain
30	chr19:38497400-38515800	Weak transcription	Fetal Brain Male	brain
31	chr19:38497400-38520600	Weak transcription	Primary T cells from cord blood	blood
32	chr19:38497600-38513600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:38498200-38514800	Weak transcription	HepG2	liver
34	chr19:38500600-38524200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:38501000-38521400	Weak transcription	Thymus	Thymus
36	chr19:38501400-38507400	Strong transcription	GM12878-XiMat	blood
37	chr19:38501800-38511000	Weak transcription	HSMM	muscle
38	chr19:38502000-38506000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr19:38502400-38505200	Strong transcription	Fetal Stomach	stomach
40	chr19:38502400-38505800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:38502400-38523000	Weak transcription	Liver	Liver
42	chr19:38502600-38512600	Weak transcription	Pancreas	Pancrea
43	chr19:38502800-38505600	Weak transcription	Primary B cells from cord blood	blood
44	chr19:38503000-38505200	Enhancers	Brain Anterior Caudate	brain
45	chr19:38503000-38505200	Enhancers	Brain Hippocampus Middle	brain
46	chr19:38503000-38505200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr19:38503000-38505200	Enhancers	Brain Substantia Nigra	brain
48	chr19:38503000-38506800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr19:38503000-38511000	Weak transcription	Spleen	Spleen
50	chr19:38503400-38505200	Enhancers	Brain Angular Gyrus	brain

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