Variant report

Variant	nsv9728
Chromosome Location	chr19:40720726-40721987
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40721100..40722836-chr19:40775767..40777934,2	MCF-7	breast:
2	chr19:40697182..40698721-chr19:40720965..40722825,2	MCF-7	breast:
3	chr19:40719578..40724896-chr19:40726262..40733162,10	MCF-7	breast:
4	chr19:40714420..40716705-chr19:40721840..40724225,2	K562	blood:
5	chr19:40677692..40680136-chr19:40719454..40721512,2	K562	blood:
6	chr19:40721117..40723953-chr19:40725760..40727528,2	K562	blood:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MAP3K10	hsa-miR-155-5p	chr19:40721456-40721463
2	MAP3K10	hsa-miR-181b-5p	chr19:40721232-40721239
3	MAP3K10	hsa-miR-155-5p	chr19:40721440-40721463

Variant related genes	Relation type
ENSG00000105221	chromatin interactions
ENSG00000130758	chromatin interactions
ENSG00000105219	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571859316	chr19:40720751-40720752	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576774233	chr19:40720761-40720762	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553537379	chr19:40720767-40720768	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572115651	chr19:40720811-40720812	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376907312	chr19:40720832-40720833	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367861816	chr19:40720847-40720848	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554570697	chr19:40720857-40720858	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142049014	chr19:40720879-40720880	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149852844	chr19:40720883-40720884	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201475171	chr19:40720903-40720904	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368709344	chr19:40720904-40720905	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151230670	chr19:40720911-40720912	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199712099	chr19:40720912-40720913	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199800639	chr19:40720922-40720923	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201319794	chr19:40720937-40720938	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200620669	chr19:40720940-40720941	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201362143	chr19:40720963-40720964	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200029351	chr19:40720965-40720966	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182074568	chr19:40720966-40720967	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545638012	chr19:40720969-40720970	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567645712	chr19:40720973-40720974	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372273027	chr19:40720988-40720989	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531778546	chr19:40720989-40720990	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550490560	chr19:40721000-40721001	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375262975	chr19:40721004-40721005	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs538813597	chr19:40721011-40721012	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554360101	chr19:40721014-40721015	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369326839	chr19:40721018-40721019	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565611295	chr19:40721046-40721047	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs140392273	chr19:40721051-40721052	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372650081	chr19:40721054-40721055	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554277950	chr19:40721067-40721068	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575623715	chr19:40721104-40721105	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs376908431	chr19:40721112-40721113	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200643469	chr19:40721113-40721114	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs543062542	chr19:40721131-40721132	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374400723	chr19:40721133-40721134	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs565505820	chr19:40721139-40721140	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs377679591	chr19:40721141-40721142	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs527871668	chr19:40721178-40721179	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs373730565	chr19:40721184-40721185	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs186666763	chr19:40721187-40721188	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs370964982	chr19:40721188-40721189	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs559524418	chr19:40721205-40721206	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs367555117	chr19:40721215-40721216	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs370535681	chr19:40721219-40721220	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs373985627	chr19:40721273-40721274	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs192185185	chr19:40721279-40721280	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs550205917	chr19:40721326-40721327	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs565543956	chr19:40721353-40721354	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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	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
Wilms tumour	21544195	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
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40698600-40721200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:40698800-40721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:40698800-40722000	Weak transcription	Fetal Thymus	thymus
4	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:40699000-40722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:40699200-40721200	Weak transcription	NH-A	brain
8	chr19:40699200-40721400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:40699400-40721200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:40699600-40722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:40699600-40722200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:40707000-40722400	Weak transcription	HMEC	breast
13	chr19:40709800-40722000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:40710600-40721200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr19:40710600-40722200	Weak transcription	Primary B cells from cord blood	blood
16	chr19:40711200-40721800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
18	chr19:40711600-40721000	Weak transcription	HSMMtube	muscle
19	chr19:40711600-40721800	Weak transcription	Fetal Brain Male	brain
20	chr19:40711600-40722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:40712200-40722400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:40712200-40722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:40712200-40722600	Weak transcription	Esophagus	oesophagus
24	chr19:40713200-40725200	Weak transcription	Hela-S3	cervix
25	chr19:40714000-40720800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr19:40714200-40722000	Strong transcription	Brain Germinal Matrix	brain
27	chr19:40714400-40720800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:40714600-40720800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:40714600-40720800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:40714800-40721000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:40714800-40721200	Strong transcription	Brain Hippocampus Middle	brain
32	chr19:40714800-40721800	Weak transcription	Fetal Lung	lung
33	chr19:40715000-40720800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:40715000-40721400	Strong transcription	Fetal Brain Female	brain
35	chr19:40715200-40720800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:40716000-40722200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:40716200-40722600	Weak transcription	K562	blood
38	chr19:40716400-40721400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:40717200-40721600	Weak transcription	Liver	Liver
40	chr19:40717200-40721800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:40717200-40722000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:40717200-40722000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:40717200-40722000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr19:40717200-40722000	Weak transcription	Fetal Intestine Large	intestine
45	chr19:40717200-40722000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:40717200-40722000	Weak transcription	NHLF	lung
47	chr19:40717200-40722200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:40717200-40722200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:40717200-40722200	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:40717200-40722200	Weak transcription	Thymus	Thymus

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