Variant report

Variant	rs59393815
Chromosome Location	chr19:40919306-40919307
allele	C/G/T
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	RAD21	chr19:40919274-40919512	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP4	chr19:40919088-40919436	H1-hESC	embryonic stem cell:	n/a	chr19:40919327-40919338
3	SP1	chr19:40919065-40919635	H1-hESC	embryonic stem cell:	n/a	chr19:40919324-40919338 chr19:40919407-40919421 chr19:40919327-40919338 chr19:40919552-40919562 chr19:40919434-40919446
4	ZNF143	chr19:40918939-40919447	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr19:40919132-40919502	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:40919121-40919313	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr19:40919169-40919456	A549	lung:	n/a	chr19:40919366-40919379 chr19:40919366-40919379
8	JUND	chr19:40919184-40919690	H1-hESC	embryonic stem cell:	n/a	chr19:40919368-40919377
9	POLR2A	chr19:40919026-40919535	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr19:40919138-40919565	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr19:40919132-40919459	K562	blood:	n/a	chr19:40919325-40919335
12	CREB1	chr19:40919057-40919648	H1-hESC	embryonic stem cell:	n/a	chr19:40919366-40919379 chr19:40919366-40919379
13	TAF1	chr19:40919161-40919424	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:40918811-40919630	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr19:40919231-40919472	HepG2	liver:	n/a	chr19:40919368-40919377
16	NFYB	chr19:40919299-40919512	K562	blood:	n/a	n/a
17	ZBTB7A	chr19:40919195-40919606	K562	blood:	n/a	n/a
18	TAF1	chr19:40919082-40919563	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:40919099-40919578	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr19:40919202-40919559	H1-hESC	embryonic stem cell:	n/a	chr19:40919327-40919337
21	POLR2A	chr19:40919042-40919625	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr19:40918894-40919684	H1-hESC	embryonic stem cell:	n/a	chr19:40919366-40919379 chr19:40919366-40919379
23	BRCA1	chr19:40919208-40919494	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40911341..40916843-chr19:40917541..40922029,6	MCF-7	breast:
2	chr19:40918980..40921925-chr19:41105412..41107688,2	K562	blood:
3	chr19:40913411..40914921-chr19:40919245..40922077,2	MCF-7	breast:

Variant related genes	Relation type
PRX	TF binding region
ENSG00000105227	Chromatin interaction
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34222811	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40910200-40926800	Weak transcription	Gastric	stomach
2	chr19:40910600-40921000	Weak transcription	Fetal Kidney	kidney
3	chr19:40910600-40922800	Weak transcription	Fetal Thymus	thymus
4	chr19:40914200-40919400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:40914400-40922800	Weak transcription	Colonic Mucosa	Colon
6	chr19:40914400-40926600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:40915400-40923000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:40916600-40920200	Enhancers	Primary hematopoietic stem cells	blood
9	chr19:40916800-40919800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:40916800-40921000	Enhancers	Right Ventricle	heart
11	chr19:40917000-40919400	Enhancers	Left Ventricle	heart
12	chr19:40917000-40920000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:40917200-40919600	Active TSS	Lung	lung
14	chr19:40917600-40919600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:40917600-40926600	Weak transcription	Esophagus	oesophagus
16	chr19:40917800-40919600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:40917800-40922800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:40917800-40923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr19:40918000-40919400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:40918000-40920400	Weak transcription	HSMMtube	muscle
21	chr19:40918000-40922200	Weak transcription	A549	lung
22	chr19:40918000-40923000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:40918000-40926400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:40918000-40926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:40918000-40926600	Weak transcription	HSMM	muscle
26	chr19:40918200-40920600	Weak transcription	Adipose Nuclei	Adipose
27	chr19:40918200-40920600	Weak transcription	HMEC	breast
28	chr19:40918200-40921000	Weak transcription	Hela-S3	cervix
29	chr19:40918200-40921600	Weak transcription	GM12878-XiMat	blood
30	chr19:40918200-40922800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:40918200-40923000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr19:40918200-40923000	Weak transcription	NHEK	skin
33	chr19:40918400-40919600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:40918400-40920600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:40918400-40920800	Weak transcription	Spleen	Spleen
36	chr19:40918400-40922000	Weak transcription	Fetal Intestine Large	intestine
37	chr19:40918400-40923200	Weak transcription	Psoas Muscle	Psoas
38	chr19:40918400-40923800	Enhancers	Fetal Muscle Trunk	muscle
39	chr19:40918400-40924000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:40918600-40921600	Weak transcription	K562	blood
41	chr19:40918800-40919400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr19:40918800-40919600	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr19:40918800-40921400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr19:40918800-40923000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr19:40918800-40924000	Enhancers	Placenta	Placenta
46	chr19:40919000-40919400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr19:40919000-40919400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr19:40919000-40919600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr19:40919000-40919600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:40919000-40919600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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