Variant report

Variant	esv3436624
Chromosome Location	chr19:37475858-37484722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr19:37480878-37480985	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ZNF568	TF binding region

Extended variants
information (count: 305 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143796107	chr19:37475866-37475867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149433761	chr19:37475867-37475868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147273426	chr19:37475868-37475869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11282301	chr19:37475871-37475872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192748648	chr19:37475895-37475896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372952892	chr19:37475898-37475899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184701463	chr19:37475906-37475907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73623524	chr19:37476007-37476008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532724646	chr19:37476011-37476012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1644669	chr19:37476027-37476028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs565872420	chr19:37476039-37476040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188978679	chr19:37476058-37476059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1644670	chr19:37476061-37476062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs548889953	chr19:37476101-37476102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181538289	chr19:37476104-37476105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368336682	chr19:37476122-37476123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12461756	chr19:37476197-37476198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12979673	chr19:37476198-37476199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537665159	chr19:37476284-37476285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147214188	chr19:37476361-37476362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36164516	chr19:37476380-37476381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201758524	chr19:37476414-37476415	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74179499	chr19:37476418-37476419	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386809028	chr19:37476421-37476422	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367817327	chr19:37476423-37476424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374086961	chr19:37476437-37476438	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1644671	chr19:37476443-37476444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs539025473	chr19:37476448-37476449	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373809303	chr19:37476488-37476489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572632610	chr19:37476498-37476499	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1667349	chr19:37476555-37476556	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs377727874	chr19:37476572-37476573	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138682881	chr19:37476586-37476587	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576531978	chr19:37476599-37476600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371678865	chr19:37476636-37476637	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537015600	chr19:37476645-37476646	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543616283	chr19:37476649-37476650	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562231883	chr19:37476668-37476669	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532907417	chr19:37476763-37476764	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537569789	chr19:37476781-37476782	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184875413	chr19:37476832-37476833	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560128423	chr19:37476889-37476890	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527303298	chr19:37476900-37476901	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549231298	chr19:37476946-37476947	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5008751	chr19:37476949-37476950	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs5008750	chr19:37476967-37476968	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs550040997	chr19:37476981-37476982	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141134184	chr19:37476983-37476984	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2547052	chr19:37477074-37477075	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs2595545	chr19:37477101-37477102	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:57)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	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
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37464800-37482000	Weak transcription	HSMMtube	muscle
2	chr19:37465000-37487200	Weak transcription	Placenta	Placenta
3	chr19:37465200-37476800	Weak transcription	NH-A	brain
4	chr19:37465200-37481800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:37465200-37482600	Weak transcription	Right Ventricle	heart
6	chr19:37465400-37483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:37465400-37483600	Weak transcription	Fetal Heart	heart
8	chr19:37465600-37482400	Weak transcription	Fetal Kidney	kidney
9	chr19:37468800-37487800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:37469400-37479200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:37469800-37477600	Weak transcription	Aorta	Aorta
12	chr19:37470400-37477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:37470400-37477600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:37470600-37482200	Weak transcription	Psoas Muscle	Psoas
15	chr19:37471800-37476400	Weak transcription	Primary B cells from cord blood	blood
16	chr19:37471800-37478000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:37471800-37480400	Weak transcription	Gastric	stomach
18	chr19:37471800-37480600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:37471800-37482000	Weak transcription	Left Ventricle	heart
20	chr19:37471800-37482600	Weak transcription	Brain Substantia Nigra	brain
21	chr19:37472000-37476600	Weak transcription	Fetal Stomach	stomach
22	chr19:37472000-37477000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:37472000-37477600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:37472000-37477600	Weak transcription	Fetal Brain Female	brain
25	chr19:37472000-37477800	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:37472000-37479200	Weak transcription	Pancreas	Pancrea
27	chr19:37472000-37479400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:37472000-37481600	Weak transcription	Brain Anterior Caudate	brain
29	chr19:37472000-37483600	Weak transcription	Osteobl	bone
30	chr19:37472200-37476400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:37472200-37477600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr19:37472200-37479200	Weak transcription	Fetal Lung	lung
33	chr19:37472200-37479400	Weak transcription	Fetal Intestine Large	intestine
34	chr19:37472200-37479800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:37472200-37481800	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:37472200-37485800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:37472200-37487000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:37472200-37487400	Weak transcription	Brain Angular Gyrus	brain
39	chr19:37472400-37477000	Weak transcription	Fetal Muscle Leg	muscle
40	chr19:37472400-37478000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr19:37472400-37481800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:37472400-37482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:37472400-37482400	Weak transcription	Dnd41	blood
44	chr19:37472800-37479200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:37473000-37482000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:37473200-37478200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:37473200-37481800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:37473400-37476400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr19:37473400-37476400	Weak transcription	Ovary	ovary
50	chr19:37474000-37477600	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links