Variant report

Variant	esv3348768
Chromosome Location	chr19:36194231-36194698
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	E2F6	chr19:36194130-36194585	H1-hESC	embryonic stem cell:	n/a	chr19:36194436-36194445
2	MAX	chr19:36194175-36194696	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr19:36194260-36194659	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFYB	chr19:36194287-36194611	GM12878	blood:	n/a	chr19:36194431-36194446 chr19:36194434-36194449 chr19:36194434-36194449 chr19:36194434-36194448 chr19:36194434-36194447 chr19:36194436-36194446 chr19:36194433-36194445
5	NFYB	chr19:36194401-36194564	Hela-S3	cervix:	n/a	chr19:36194431-36194446 chr19:36194434-36194449 chr19:36194434-36194449 chr19:36194434-36194448 chr19:36194434-36194447 chr19:36194436-36194446 chr19:36194433-36194445
6	NFYB	chr19:36194305-36194623	K562	blood:	n/a	chr19:36194431-36194446 chr19:36194434-36194449 chr19:36194434-36194449 chr19:36194434-36194448 chr19:36194434-36194447 chr19:36194436-36194446 chr19:36194433-36194445
7	POLR2A	chr19:36194485-36194633	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:36192816-36194277	HepG2	liver:	n/a	n/a
9	SIX5	chr19:36192985-36194232	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36193261..36195251-chr19:36208816..36211234,2	K562	blood:
2	chr19:36193001..36195251-chr19:36206737..36211234,4	K562	blood:
3	chr19:36184467..36185236-chr19:36193340..36194279,2	MCF-7	breast:
4	chr19:36193425..36195138-chr19:36196726..36199415,4	K562	blood:
5	chr19:36193434..36194967-chr19:36206737..36208478,2	K562	blood:
6	chr19:36192706..36195143-chr19:36207502..36210108,2	MCF-7	breast:
7	chr19:36134071..36136376-chr19:36193211..36195269,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB32	TF binding region
ENSG00000105672	chromatin interactions
ENSG00000272333	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565880789	chr19:36194238-36194239	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs73590559	chr19:36194251-36194252	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551541639	chr19:36194304-36194305	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs192474639	chr19:36194389-36194390	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs537031862	chr19:36194440-36194441	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs148207707	chr19:36194446-36194447	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs573975309	chr19:36194451-36194452	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs536499068	chr19:36194452-36194453	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs367805501	chr19:36194469-36194470	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs553208151	chr19:36194491-36194492	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs182638360	chr19:36194525-36194526	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs545104902	chr19:36194541-36194542	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs187987478	chr19:36194596-36194597	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs575222550	chr19:36194640-36194641	Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs569551076	chr19:36194651-36194652	Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs543789632	chr19:36194663-36194664	Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs563677119	chr19:36194696-36194697	Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36192800-36194400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:36193400-36194400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:36193800-36194400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr19:36193800-36194600	Enhancers	Lung	lung
5	chr19:36194000-36194400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr19:36194000-36194400	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:36194000-36194400	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr19:36194000-36194600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:36194000-36194600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:36194000-36194600	Enhancers	Esophagus	oesophagus
11	chr19:36194000-36194600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr19:36194000-36194800	Enhancers	Gastric	stomach
13	chr19:36194000-36194800	Enhancers	Spleen	Spleen
14	chr19:36194000-36195600	Enhancers	Pancreas	Pancrea
15	chr19:36194000-36199200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:36194000-36206600	Weak transcription	Brain Angular Gyrus	brain
17	chr19:36194000-36206800	Weak transcription	Right Atrium	heart
18	chr19:36194000-36206800	Weak transcription	Osteobl	bone
19	chr19:36194200-36194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr19:36194200-36194400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:36194200-36194400	Enhancers	Fetal Brain Female	brain
22	chr19:36194200-36194400	Enhancers	Placenta	Placenta
23	chr19:36194200-36194400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr19:36194200-36194400	Enhancers	Dnd41	blood
25	chr19:36194200-36194600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr19:36194200-36194600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr19:36194200-36194600	Enhancers	Right Ventricle	heart
28	chr19:36194200-36194600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr19:36194200-36194600	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:36194200-36194800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:36194400-36194600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:36194400-36194600	Enhancers	Colonic Mucosa	Colon
33	chr19:36194400-36194600	Flanking Active TSS	Dnd41	blood
34	chr19:36194400-36195200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr19:36194600-36195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:36194600-36195400	Weak transcription	Lung	lung
37	chr19:36194600-36196600	Weak transcription	GM12878-XiMat	blood
38	chr19:36194600-36197600	Weak transcription	Esophagus	oesophagus
39	chr19:36194600-36200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:36194600-36206200	Weak transcription	Right Ventricle	heart

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