Variant report

Variant	esv3391005
Chromosome Location	chr19:40718862-40721060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40697182..40698721-chr19:40720965..40722825,2	MCF-7	breast:
2	chr19:40719578..40724896-chr19:40726262..40733162,10	MCF-7	breast:
3	chr19:40677692..40680136-chr19:40719454..40721512,2	K562	blood:
4	chr19:40718966..40720557-chr19:40970045..40972641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160460	chromatin interactions
ENSG00000090013	chromatin interactions
ENSG00000130758	chromatin interactions
ENSG00000105219	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149414474	chr19:40718865-40718866	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs146363391	chr19:40718880-40718881	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs367800918	chr19:40718900-40718901	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs372897510	chr19:40718907-40718908	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs529519723	chr19:40718927-40718928	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs201673191	chr19:40718958-40718959	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs367658188	chr19:40718966-40718967	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200769588	chr19:40718969-40718970	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200074113	chr19:40718979-40718980	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113513786	chr19:40718980-40718981	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148455495	chr19:40719007-40719008	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs560357013	chr19:40719047-40719048	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs527608473	chr19:40719065-40719066	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139652059	chr19:40719067-40719068	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1129156	chr19:40719076-40719077	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs145959088	chr19:40719087-40719088	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372908173	chr19:40719102-40719103	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201251565	chr19:40719121-40719122	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375869293	chr19:40719134-40719135	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117163728	chr19:40719181-40719182	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs146461279	chr19:40719183-40719184	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532728571	chr19:40719219-40719220	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557745100	chr19:40719222-40719223	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573454644	chr19:40719230-40719231	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs59999853	chr19:40719237-40719238	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556060914	chr19:40719257-40719258	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574142916	chr19:40719265-40719266	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369975053	chr19:40719389-40719390	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3746006	chr19:40719410-40719411	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs375109204	chr19:40719417-40719418	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369324782	chr19:40719434-40719435	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs13343617	chr19:40719442-40719443	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563622305	chr19:40719454-40719455	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577824910	chr19:40719462-40719463	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199802354	chr19:40719465-40719466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544988529	chr19:40719470-40719471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs34886198	chr19:40719497-40719498	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372801404	chr19:40719524-40719525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200291216	chr19:40719528-40719529	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200389834	chr19:40719537-40719538	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs199829117	chr19:40719548-40719549	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531356848	chr19:40719562-40719563	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549573511	chr19:40719563-40719564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568974171	chr19:40719567-40719568	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539565456	chr19:40719766-40719767	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs377653522	chr19:40719783-40719784	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs551881274	chr19:40719786-40719787	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201388560	chr19:40719901-40719902	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs534240104	chr19:40719905-40719906	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533682595	chr19:40719906-40719907	Weak transcription Strong transcription Enhancers	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:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40698600-40721200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:40698800-40719600	Weak transcription	HSMM	muscle
3	chr19:40698800-40720200	Weak transcription	NHEK	skin
4	chr19:40698800-40721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:40698800-40722000	Weak transcription	Fetal Thymus	thymus
6	chr19:40699000-40720400	Weak transcription	Psoas Muscle	Psoas
7	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr19:40699000-40722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:40699200-40720200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:40699200-40720400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr19:40699200-40721200	Weak transcription	NH-A	brain
13	chr19:40699200-40721400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:40699400-40721200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:40699600-40722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:40699600-40722200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:40699800-40720000	Weak transcription	NHDF-Ad	bronchial
18	chr19:40699800-40720600	Weak transcription	HepG2	liver
19	chr19:40707000-40722400	Weak transcription	HMEC	breast
20	chr19:40709800-40722000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:40710600-40721200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr19:40710600-40722200	Weak transcription	Primary B cells from cord blood	blood
23	chr19:40711200-40721800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
25	chr19:40711600-40719800	Weak transcription	Colonic Mucosa	Colon
26	chr19:40711600-40720400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr19:40711600-40721000	Weak transcription	HSMMtube	muscle
28	chr19:40711600-40721800	Weak transcription	Fetal Brain Male	brain
29	chr19:40711600-40722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:40711800-40720600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:40712000-40719000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:40712200-40720400	Strong transcription	Fetal Stomach	stomach
33	chr19:40712200-40722400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:40712200-40722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:40712200-40722600	Weak transcription	Esophagus	oesophagus
36	chr19:40713200-40719200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr19:40713200-40725200	Weak transcription	Hela-S3	cervix
38	chr19:40714000-40720800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr19:40714200-40722000	Strong transcription	Brain Germinal Matrix	brain
40	chr19:40714400-40720800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:40714600-40719000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:40714600-40719000	Strong transcription	Adipose Nuclei	Adipose
43	chr19:40714600-40719000	Strong transcription	Fetal Muscle Leg	muscle
44	chr19:40714600-40719200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:40714600-40719200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr19:40714600-40719400	Strong transcription	Fetal Intestine Small	intestine
47	chr19:40714600-40720600	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:40714600-40720800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:40714600-40720800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:40714800-40719000	Strong transcription	Ovary	ovary

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