Variant report

Variant	esv3438121
Chromosome Location	chr19:24293112-24297510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:24269735..24271787-chr19:24289462..24293668,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213096	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs192028142	chr19:24293136-24293137	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562927166	chr19:24293139-24293140	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533238293	chr19:24293175-24293176	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140365677	chr19:24293189-24293190	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549285469	chr19:24293196-24293197	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566537997	chr19:24293209-24293210	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2198983	chr19:24293213-24293214	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150372120	chr19:24293231-24293232	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185058468	chr19:24293242-24293243	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571754418	chr19:24293299-24293300	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77769900	chr19:24293329-24293330	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538742331	chr19:24293332-24293333	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547421026	chr19:24293367-24293368	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551023540	chr19:24293403-24293404	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189391227	chr19:24293469-24293470	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548394678	chr19:24293501-24293502	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536614075	chr19:24293559-24293560	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555707999	chr19:24293567-24293568	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573805566	chr19:24293582-24293583	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116486481	chr19:24293585-24293586	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552880652	chr19:24293589-24293590	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577700181	chr19:24293648-24293649	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181003696	chr19:24293659-24293660	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563013298	chr19:24293796-24293797	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574905321	chr19:24293853-24293854	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184502505	chr19:24293895-24293896	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188977040	chr19:24293902-24293903	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181471160	chr19:24293909-24293910	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528773859	chr19:24293914-24293915	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145122425	chr19:24293961-24293962	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528850893	chr19:24294037-24294038	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs11672277	chr19:24294074-24294075	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532725112	chr19:24294146-24294147	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10418094	chr19:24294192-24294193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569331867	chr19:24294263-24294264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536649714	chr19:24294268-24294269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548286981	chr19:24294351-24294352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567590930	chr19:24294408-24294409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534596422	chr19:24294425-24294426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62114843	chr19:24294438-24294439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553159252	chr19:24294454-24294455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62114844	chr19:24294460-24294461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369805857	chr19:24294467-24294468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374118989	chr19:24294472-24294473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538408631	chr19:24294537-24294538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556643634	chr19:24294598-24294599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199955031	chr19:24294769-24294770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574993977	chr19:24294891-24294892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200747882	chr19:24294970-24294971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554253197	chr19:24295171-24295172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24270600-24296200	Weak transcription	Stomach Mucosa	stomach
2	chr19:24271200-24300200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:24271400-24295000	Weak transcription	HMEC	breast
4	chr19:24271400-24301400	Weak transcription	HSMMtube	muscle
5	chr19:24271400-24308600	Weak transcription	K562	blood
6	chr19:24275200-24294000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:24280800-24293800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:24282600-24294000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:24284200-24293600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:24284800-24300400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:24285000-24302200	Weak transcription	Brain Substantia Nigra	brain
12	chr19:24285600-24293800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:24285600-24293800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:24287400-24293400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:24287800-24293200	Strong transcription	Fetal Kidney	kidney
16	chr19:24288200-24294000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:24288400-24293600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr19:24289400-24293600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:24289400-24293600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr19:24289600-24293600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:24290400-24293400	Strong transcription	Fetal Muscle Leg	muscle
22	chr19:24290600-24293400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:24290600-24293400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
24	chr19:24290600-24293400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr19:24290600-24293400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:24290600-24293400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr19:24290600-24293400	ZNF genes & repeats	Lung	lung
28	chr19:24290600-24293400	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:24290600-24293600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:24290600-24293600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr19:24290600-24293600	ZNF genes & repeats	Dnd41	blood
32	chr19:24290600-24293800	ZNF genes & repeats	Liver	Liver
33	chr19:24290600-24294000	Strong transcription	Left Ventricle	heart
34	chr19:24290800-24293400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:24290800-24293600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr19:24290800-24293600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr19:24291000-24293600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr19:24291000-24308600	Weak transcription	Hela-S3	cervix
39	chr19:24291200-24293200	Weak transcription	Spleen	Spleen
40	chr19:24291200-24293400	Strong transcription	Gastric	stomach
41	chr19:24291200-24293600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr19:24291200-24295800	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:24291200-24299800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:24291200-24305800	Weak transcription	HUVEC	blood vessel
45	chr19:24291400-24293200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:24291400-24293800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr19:24291400-24295600	Weak transcription	Brain Angular Gyrus	brain
48	chr19:24291400-24299800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:24291400-24300000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:24291400-24300200	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links