Variant report

Variant	esv3427270
Chromosome Location	chr19:56670165-56672713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56629489..56634220-chr19:56669438..56672603,6	K562	blood:
2	chr19:56650990..56653515-chr19:56668518..56670798,3	K562	blood:
3	chr19:56670800..56672784-chr19:56675448..56678240,2	MCF-7	breast:
4	chr19:56671026..56674616-chr19:56677144..56679269,3	K562	blood:
5	chr19:56664832..56668754-chr19:56669452..56673649,4	K562	blood:
6	chr19:56651508..56653852-chr19:56670143..56672532,2	K562	blood:

Variant related genes	Relation type
ENSG00000167685	chromatin interactions
ENSG00000142409	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111874162	chr19:56670165-56670166	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs543633609	chr19:56670168-56670169	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112746273	chr19:56670177-56670178	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573732017	chr19:56670180-56670181	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs530406046	chr19:56670199-56670200	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138148696	chr19:56670207-56670208	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559266371	chr19:56670223-56670224	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191329318	chr19:56670225-56670226	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545015952	chr19:56670226-56670227	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565233738	chr19:56670229-56670230	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370018130	chr19:56670232-56670233	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141725911	chr19:56670265-56670266	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550718641	chr19:56670275-56670276	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567544989	chr19:56670290-56670291	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184249846	chr19:56670324-56670325	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546765211	chr19:56670328-56670329	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566984772	chr19:56670336-56670337	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114132578	chr19:56670338-56670339	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533344642	chr19:56670361-56670362	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374782227	chr19:56670370-56670371	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552645901	chr19:56670376-56670377	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs73063827	chr19:56670381-56670382	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150781839	chr19:56670397-56670398	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537346601	chr19:56670403-56670404	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557164996	chr19:56670432-56670433	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528092691	chr19:56670433-56670434	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536479541	chr19:56670461-56670462	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs150630955	chr19:56670475-56670476	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552770193	chr19:56670493-56670494	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572939071	chr19:56670545-56670546	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544668056	chr19:56670589-56670590	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546692316	chr19:56670590-56670591	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575484325	chr19:56670598-56670599	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551393017	chr19:56670601-56670602	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114850545	chr19:56670630-56670631	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561283095	chr19:56670641-56670642	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138427244	chr19:56670677-56670678	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188533776	chr19:56670682-56670683	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149271755	chr19:56670704-56670705	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs532650302	chr19:56670705-56670706	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552558931	chr19:56670706-56670707	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569296841	chr19:56670707-56670708	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537307280	chr19:56670732-56670733	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147341487	chr19:56670733-56670734	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs550352101	chr19:56670776-56670777	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs77360266	chr19:56670812-56670813	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536053167	chr19:56670881-56670882	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139443858	chr19:56670888-56670889	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572807095	chr19:56670925-56670926	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538347190	chr19:56670941-56670942	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56653800-56673000	Weak transcription	Hela-S3	cervix
2	chr19:56653800-56674000	Weak transcription	Fetal Kidney	kidney
3	chr19:56654000-56681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:56654200-56674000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:56654400-56671200	Weak transcription	Small Intestine	intestine
6	chr19:56655200-56672200	Weak transcription	NHDF-Ad	bronchial
7	chr19:56656400-56672200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:56659200-56673000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr19:56659400-56671000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:56659600-56670400	Weak transcription	NHEK	skin
11	chr19:56660200-56670400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr19:56661400-56676200	Weak transcription	Fetal Brain Male	brain
13	chr19:56662000-56672200	Weak transcription	Fetal Heart	heart
14	chr19:56663000-56673200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:56663200-56674000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:56663800-56672400	Strong transcription	Dnd41	blood
17	chr19:56663800-56673000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:56663800-56673600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:56664000-56672800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:56664000-56673000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:56664400-56670200	Weak transcription	NH-A	brain
22	chr19:56664600-56672800	Strong transcription	Fetal Intestine Large	intestine
23	chr19:56664800-56672800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:56664800-56673800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:56664800-56673800	Strong transcription	Fetal Intestine Small	intestine
26	chr19:56665000-56670200	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:56665000-56674000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:56665200-56672400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:56665200-56673400	Strong transcription	Gastric	stomach
30	chr19:56665200-56674000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:56665200-56674400	Strong transcription	Fetal Stomach	stomach
32	chr19:56665400-56671000	Strong transcription	Fetal Lung	lung
33	chr19:56665400-56672800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:56665400-56673200	Weak transcription	HUVEC	blood vessel
35	chr19:56665400-56674000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr19:56665400-56674200	Strong transcription	Fetal Brain Female	brain
37	chr19:56665600-56672600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr19:56665600-56672800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:56665600-56673200	Strong transcription	Thymus	Thymus
40	chr19:56665600-56673400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:56665800-56673000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:56665800-56674200	Strong transcription	Brain Germinal Matrix	brain
43	chr19:56666000-56670800	Strong transcription	A549	lung
44	chr19:56666000-56672000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:56666000-56672400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:56666000-56672600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr19:56666000-56672600	Strong transcription	Fetal Thymus	thymus
48	chr19:56666000-56672800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:56666000-56673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:56666000-56673200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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