Variant report

Variant	esv3412110
Chromosome Location	chr19:36609001-36609429
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	BATF	chr19:36608954-36609234	GM12878	blood:	n/a	n/a
2	BATF	chr19:36608938-36609264	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:36609220-36609577	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:36609139-36609463	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36498267..36501775-chr19:36606279..36609989,4	MCF-7	breast:
2	chr19:36608534..36610118-chr19:36630270..36632454,3	MCF-7	breast:

Variant related genes	Relation type
TBCB	TF binding region
POLR2I	TF binding region
ENSG00000181392	chromatin interactions
ENSG00000126247	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577883760	chr19:36609053-36609054	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs569840535	chr19:36609056-36609057	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs146129583	chr19:36609057-36609058	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs60393405	chr19:36609067-36609068	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373869094	chr19:36609084-36609085	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs10420582	chr19:36609156-36609157	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540024634	chr19:36609161-36609162	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs560324494	chr19:36609162-36609163	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs112419799	chr19:36609179-36609180	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs62111381	chr19:36609252-36609253	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140157747	chr19:36609254-36609255	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs576247297	chr19:36609271-36609272	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs186625543	chr19:36609318-36609319	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs113238123	chr19:36609334-36609335	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs576979156	chr19:36609355-36609356	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs377738858	chr19:36609399-36609400	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs191826859	chr19:36609403-36609404	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs371046526	chr19:36609411-36609412	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	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
Gastric cancer	21811585	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
Breast cancer	21509527	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36607200-36612200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36607200-36612200	Weak transcription	Aorta	Aorta
3	chr19:36607200-36618600	Weak transcription	Psoas Muscle	Psoas
4	chr19:36607400-36609200	Weak transcription	Fetal Intestine Small	intestine
5	chr19:36607400-36612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36607400-36612800	Weak transcription	HSMMtube	muscle
7	chr19:36607400-36613800	Weak transcription	HSMM	muscle
8	chr19:36607400-36617000	Strong transcription	Thymus	Thymus
9	chr19:36607400-36617200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:36607400-36618400	Weak transcription	Stomach Mucosa	stomach
11	chr19:36607400-36618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:36607400-36618800	Weak transcription	Small Intestine	intestine
13	chr19:36607600-36609200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:36607600-36609200	Genic enhancers	Brain Hippocampus Middle	brain
15	chr19:36607600-36609600	Weak transcription	Right Ventricle	heart
16	chr19:36607600-36609800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:36607600-36610400	Strong transcription	Fetal Intestine Large	intestine
18	chr19:36607600-36610600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:36607600-36610600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:36607600-36610800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:36607600-36611000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:36607600-36611000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:36607600-36611200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:36607600-36612000	Genic enhancers	Brain Inferior Temporal Lobe	brain
25	chr19:36607600-36612400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:36607600-36612400	Strong transcription	NHEK	skin
27	chr19:36607600-36614800	Weak transcription	HUVEC	blood vessel
28	chr19:36607600-36615400	Strong transcription	Fetal Lung	lung
29	chr19:36607600-36616000	Weak transcription	Fetal Kidney	kidney
30	chr19:36607600-36617000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:36607600-36617000	Strong transcription	Primary T cells from cord blood	blood
32	chr19:36607600-36617000	Strong transcription	Brain Germinal Matrix	brain
33	chr19:36607600-36617000	Strong transcription	Fetal Muscle Leg	muscle
34	chr19:36607600-36617000	Strong transcription	Osteobl	bone
35	chr19:36607600-36617200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:36607600-36617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:36607600-36617200	Strong transcription	Placenta	Placenta
38	chr19:36607600-36618400	Weak transcription	K562	blood
39	chr19:36607800-36610200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:36607800-36610800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:36607800-36617000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:36608000-36609200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr19:36608000-36609200	Weak transcription	Esophagus	oesophagus
44	chr19:36608000-36609200	Weak transcription	Lung	lung
45	chr19:36608000-36609200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:36608000-36609600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:36608000-36609600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:36608000-36610000	Strong transcription	Brain Angular Gyrus	brain
49	chr19:36608000-36610200	Weak transcription	Colonic Mucosa	Colon
50	chr19:36608000-36610200	Genic enhancers	HepG2	liver

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