Variant report

Variant	esv3353863
Chromosome Location	chr19:41734412-41738010
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41730730..41737018-chr19:41737152..41743219,7	K562	blood:
2	chr19:41731216..41733195-chr19:41734702..41737336,2	MCF-7	breast:
3	chr19:41732801..41734640-chr19:41767738..41769811,2	K562	blood:
4	chr19:41730351..41733971-chr19:41737087..41743441,7	K562	blood:
5	chr19:41737149..41740146-chr19:41745201..41747116,2	MCF-7	breast:
6	chr19:41730763..41733652-chr19:41734170..41736394,3	K562	blood:
7	chr19:41731580..41733703-chr19:41737172..41738750,2	MCF-7	breast:
8	chr19:41733057..41734716-chr19:41742855..41744985,2	MCF-7	breast:
9	chr19:41736676..41739290-chr19:41770146..41772060,2	MCF-7	breast:
10	chr19:41735933..41738836-chr19:41743059..41745644,2	MCF-7	breast:
11	chr19:41734780..41738564-chr19:41748060..41751187,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167601	chromatin interactions
ENSG00000105323	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs538213765	chr19:41734433-41734434	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537428864	chr19:41734467-41734468	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556697477	chr19:41734469-41734470	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs4802112	chr19:41734490-41734491	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs11669668	chr19:41734491-41734492	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186071684	chr19:41734537-41734538	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4803448	chr19:41734560-41734561	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs112449337	chr19:41734580-41734581	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560998787	chr19:41734605-41734606	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs4803449	chr19:41734666-41734667	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139463516	chr19:41734667-41734668	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564530877	chr19:41734679-41734680	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149838964	chr19:41734797-41734798	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538767252	chr19:41734843-41734844	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12978098	chr19:41734845-41734846	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560771391	chr19:41734848-41734849	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542485635	chr19:41734861-41734862	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs36016970	chr19:41734862-41734863	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs59584519	chr19:41734871-41734872	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191295443	chr19:41734915-41734916	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12977931	chr19:41734947-41734948	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12979764	chr19:41734958-41734959	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113988445	chr19:41735045-41735046	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550238411	chr19:41735092-41735093	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563221824	chr19:41735107-41735108	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12980248	chr19:41735115-41735116	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79927887	chr19:41735144-41735145	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553943786	chr19:41735189-41735190	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572229709	chr19:41735195-41735196	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183206743	chr19:41735210-41735211	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554859339	chr19:41735251-41735252	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575972244	chr19:41735252-41735253	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543311367	chr19:41735262-41735263	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186011494	chr19:41735273-41735274	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs60323701	chr19:41735350-41735351	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576414786	chr19:41735371-41735372	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541135730	chr19:41735381-41735382	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559155597	chr19:41735407-41735408	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190919482	chr19:41735435-41735436	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113739911	chr19:41735436-41735437	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114930604	chr19:41735458-41735459	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532088297	chr19:41735529-41735530	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558447879	chr19:41735546-41735547	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369058978	chr19:41735588-41735589	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550471942	chr19:41735619-41735620	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73931456	chr19:41735656-41735657	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183247613	chr19:41735673-41735674	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111463247	chr19:41735674-41735675	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566001647	chr19:41735731-41735732	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536741759	chr19:41735769-41735770	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	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:179 , 50 per page) page: 1 2 3 4

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	chr19:41732800-41735800	Weak transcription	Fetal Lung	lung
4	chr19:41732800-41736200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41732800-41739200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:41732800-41742800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:41732800-41745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41733000-41735400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:41733000-41735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:41733000-41735600	Weak transcription	Fetal Kidney	kidney
11	chr19:41733000-41736000	Weak transcription	Lung	lung
12	chr19:41733000-41736000	Genic enhancers	NHDF-Ad	bronchial
13	chr19:41733000-41736200	Weak transcription	Pancreas	Pancrea
14	chr19:41733000-41736400	Weak transcription	Brain Angular Gyrus	brain
15	chr19:41733000-41736400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:41733000-41736600	Weak transcription	Aorta	Aorta
17	chr19:41733000-41736600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:41733000-41736600	Weak transcription	Fetal Stomach	stomach
19	chr19:41733000-41738600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:41733000-41739200	Weak transcription	Placenta	Placenta
21	chr19:41733000-41739400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:41733000-41739400	Weak transcription	Ovary	ovary
23	chr19:41733000-41740200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:41733000-41743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:41733000-41743200	Weak transcription	Right Ventricle	heart
26	chr19:41733000-41743600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:41733000-41743600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:41733000-41743600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:41733000-41743600	Weak transcription	Esophagus	oesophagus
30	chr19:41733000-41743600	Weak transcription	Spleen	Spleen
31	chr19:41733000-41743800	Weak transcription	Colonic Mucosa	Colon
32	chr19:41733000-41744200	Weak transcription	Gastric	stomach
33	chr19:41733000-41745200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:41733200-41735000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:41733200-41735000	Strong transcription	NHEK	skin
36	chr19:41733200-41735600	Strong transcription	HSMM	muscle
37	chr19:41733200-41735600	Strong transcription	Osteobl	bone
38	chr19:41733200-41736200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:41733200-41736600	Genic enhancers	A549	lung
40	chr19:41733200-41738000	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:41733200-41738800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:41733200-41739400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:41733200-41739400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:41733200-41739600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:41733200-41740600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:41733200-41741400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:41733200-41745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr19:41733200-41746000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:41733200-41749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:41733200-41767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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