Variant report

Variant	rs73934393
Chromosome Location	chr19:56135341-56135342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56134460..56137185-chr19:56162633..56166165,3	K562	blood:
2	chr19:55994966..55997371-chr19:56133954..56136992,3	K562	blood:
3	chr19:56134733..56137004-chr19:56165358..56168098,3	MCF-7	breast:
4	chr19:56134501..56137412-chr19:56145689..56149345,6	K562	blood:
5	chr19:55969994..55973672-chr19:56134456..56137440,3	MCF-7	breast:
6	chr19:56123945..56128950-chr19:56130054..56135521,12	K562	blood:
7	chr19:55917750..55919374-chr19:56134333..56135966,2	K562	blood:
8	chr19:55950973..55953730-chr19:56134853..56137596,2	K562	blood:
9	chr19:56134500..56138557-chr19:56151822..56155582,4	K562	blood:
10	chr19:56134221..56137618-chr19:56162633..56168532,10	K562	blood:
11	chr19:56133602..56135847-chr19:56151330..56154007,2	MCF-7	breast:
12	chr19:56110415..56112373-chr19:56134518..56138349,4	MCF-7	breast:
13	chr19:55986860..55989470-chr19:56134046..56136997,2	K562	blood:
14	chr19:56116188..56118514-chr19:56134480..56137487,3	MCF-7	breast:
15	chr19:56109378..56114662-chr19:56134412..56139001,15	K562	blood:
16	chr19:56115235..56119649-chr19:56131831..56136050,11	K562	blood:
17	chr19:55918880..55921412-chr19:56134337..56137770,3	MCF-7	breast:
18	chr19:56131862..56136924-chr19:56144839..56148352,5	MCF-7	breast:
19	chr19:56132811..56137423-chr19:56151241..56156557,5	MCF-7	breast:
20	chr19:56133203..56138391-chr19:56150309..56156340,8	K562	blood:
21	chr19:56135134..56137131-chr19:56144636..56147133,4	MCF-7	breast:
22	chr19:56125033..56127900-chr19:56132851..56135429,4	MCF-7	breast:
23	chr19:56028711..56031331-chr19:56131776..56135542,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187902	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000213015	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56250101	0.81[AFR][1000 genomes]
rs56331023	0.81[AFR][1000 genomes]
rs7259701	1.00[AMR][1000 genomes]
rs73934395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934396	0.85[AFR][1000 genomes]
rs73934402	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
10	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
13	esv3416031	chr19:56134790-56136988	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
14	esv3354949	chr19:56135340-56136538	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56121600-56135800	Weak transcription	NHDF-Ad	bronchial
2	chr19:56122200-56135800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:56128400-56135600	Weak transcription	Small Intestine	intestine
4	chr19:56129200-56135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:56129200-56135400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:56129200-56135400	Weak transcription	Colonic Mucosa	Colon
7	chr19:56129200-56135800	Weak transcription	Aorta	Aorta
8	chr19:56129200-56135800	Weak transcription	Brain Substantia Nigra	brain
9	chr19:56132200-56135800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:56133600-56135600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr19:56134000-56135400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:56134000-56135400	Weak transcription	Esophagus	oesophagus
13	chr19:56134000-56135600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr19:56134000-56135800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:56134000-56135800	Weak transcription	Gastric	stomach
16	chr19:56134000-56135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:56134200-56135400	Weak transcription	Lung	lung
18	chr19:56134200-56135400	Weak transcription	Ovary	ovary
19	chr19:56134200-56135400	Weak transcription	Thymus	Thymus
20	chr19:56134200-56135600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:56134200-56135800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:56134200-56136000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:56134400-56135400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:56134400-56135400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:56134400-56135400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:56134400-56135400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr19:56134400-56135600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:56134600-56135400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr19:56134600-56135600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr19:56134800-56135400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:56134800-56135400	Enhancers	Fetal Intestine Large	intestine
32	chr19:56134800-56135400	Enhancers	Fetal Stomach	stomach
33	chr19:56134800-56135600	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:56134800-56135600	Enhancers	Fetal Thymus	thymus
35	chr19:56134800-56135600	Flanking Active TSS	K562	blood
36	chr19:56134800-56135600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr19:56134800-56135800	Enhancers	Primary B cells from cord blood	blood
38	chr19:56134800-56135800	Enhancers	Primary hematopoietic stem cells	blood
39	chr19:56134800-56135800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr19:56134800-56135800	Enhancers	Liver	Liver
41	chr19:56134800-56136600	Active TSS	Right Ventricle	heart
42	chr19:56134800-56136800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:56135000-56135400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:56135000-56135400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:56135000-56135400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr19:56135000-56135400	Enhancers	Adipose Nuclei	Adipose
47	chr19:56135000-56135400	Enhancers	Stomach Mucosa	stomach
48	chr19:56135000-56135400	Flanking Active TSS	HSMM	muscle
49	chr19:56135000-56135400	Flanking Active TSS	HSMMtube	muscle
50	chr19:56135000-56135400	Flanking Active TSS	NH-A	brain

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