Variant report

Variant	esv995062
Chromosome Location	chr19:41745232-41748598
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41740738..41742359-chr19:41744451..41746880,2	K562	blood:
2	chr19:41743047..41745735-chr19:41754971..41757582,2	K562	blood:
3	chr19:41735933..41738836-chr19:41743059..41745644,2	MCF-7	breast:
4	chr19:41746619..41748127-chr19:41770333..41771987,2	MCF-7	breast:
5	chr19:41737149..41740146-chr19:41745201..41747116,2	MCF-7	breast:
6	chr19:41746661..41748497-chr19:41768148..41769730,2	MCF-7	breast:
7	chr19:41734780..41738564-chr19:41748060..41751187,3	K562	blood:
8	chr19:41744240..41745795-chr19:41816442..41819001,2	MCF-7	breast:
9	chr19:41748141..41750709-chr19:41755527..41757688,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105323	chromatin interactions
ENSG00000142039	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554168971	chr19:41745252-41745253	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113821295	chr19:41745281-41745282	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143816943	chr19:41745344-41745345	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542334406	chr19:41745397-41745398	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2304235	chr19:41745414-41745415	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77333013	chr19:41745440-41745441	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191238361	chr19:41745458-41745459	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113708073	chr19:41745465-41745466	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113296064	chr19:41745488-41745489	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564183870	chr19:41745496-41745497	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145149412	chr19:41745500-41745501	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376619948	chr19:41745502-41745503	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533493092	chr19:41745513-41745514	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372301647	chr19:41745514-41745515	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368090279	chr19:41745515-41745516	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552070756	chr19:41745527-41745528	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566895854	chr19:41745539-41745540	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80091624	chr19:41745540-41745541	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375715765	chr19:41745546-41745547	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368712021	chr19:41745547-41745548	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199928489	chr19:41745608-41745609	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376824621	chr19:41745636-41745637	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201263938	chr19:41745638-41745639	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368946965	chr19:41745691-41745692	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371406770	chr19:41745711-41745712	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149141381	chr19:41745839-41745840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185593573	chr19:41745873-41745874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112346888	chr19:41745886-41745887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147856315	chr19:41745889-41745890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56343616	chr19:41745904-41745905	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75088429	chr19:41745930-41745931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554141357	chr19:41745957-41745958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113522975	chr19:41745978-41745979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543489728	chr19:41745991-41745992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189220834	chr19:41746000-41746001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370640900	chr19:41746132-41746133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533544759	chr19:41746142-41746143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374310683	chr19:41746166-41746167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547699123	chr19:41746203-41746204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545720067	chr19:41746218-41746219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34483903	chr19:41746281-41746282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372479791	chr19:41746282-41746283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71175700	chr19:41746307-41746308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370137773	chr19:41746308-41746309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560729354	chr19:41746433-41746434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527979820	chr19:41746484-41746485	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549443462	chr19:41746531-41746532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12982872	chr19:41746535-41746536	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs193095191	chr19:41746560-41746561	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550213767	chr19:41746563-41746564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41730200-41762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41732600-41768800	Weak transcription	Small Intestine	intestine
3	chr19:41733200-41745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:41733200-41746000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:41733200-41749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:41733200-41767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:41733200-41767200	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr19:41734000-41748600	Weak transcription	Hela-S3	cervix
9	chr19:41736000-41752400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:41736000-41767200	Strong transcription	Osteobl	bone
11	chr19:41736000-41767400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:41736200-41757000	Strong transcription	NH-A	brain
13	chr19:41736400-41767800	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr19:41736600-41745600	Weak transcription	Fetal Kidney	kidney
15	chr19:41736600-41757200	Strong transcription	NHLF	lung
16	chr19:41736600-41766200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:41736600-41766600	Strong transcription	Fetal Stomach	stomach
18	chr19:41736600-41767000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:41736600-41767200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:41736600-41767400	Strong transcription	HSMM	muscle
21	chr19:41736600-41767800	Weak transcription	Brain Angular Gyrus	brain
22	chr19:41736800-41754400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:41736800-41758200	Strong transcription	Fetal Muscle Leg	muscle
24	chr19:41736800-41762400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:41737200-41746200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:41737200-41766000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr19:41737400-41766600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:41738000-41761000	Strong transcription	Colon Smooth Muscle	Colon
29	chr19:41738200-41745600	Weak transcription	Brain Substantia Nigra	brain
30	chr19:41738600-41748600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:41738800-41767400	Weak transcription	Fetal Brain Male	brain
32	chr19:41739000-41748600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:41739400-41752800	Strong transcription	NHDF-Ad	bronchial
34	chr19:41739400-41754200	Weak transcription	Left Ventricle	heart
35	chr19:41739400-41758200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:41739400-41767400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:41739600-41749600	Strong transcription	Aorta	Aorta
38	chr19:41739600-41752000	Strong transcription	Adipose Nuclei	Adipose
39	chr19:41739800-41766200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:41740200-41754400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:41741000-41745600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:41741000-41747800	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:41742600-41749600	Strong transcription	Rectal Smooth Muscle	rectum
44	chr19:41742600-41752200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:41742600-41767600	Strong transcription	A549	lung
46	chr19:41742800-41745400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:41742800-41749800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr19:41742800-41757000	Strong transcription	HSMMtube	muscle
49	chr19:41742800-41757200	Strong transcription	Ovary	ovary
50	chr19:41743000-41757000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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