Variant report

Variant	rs748913
Chromosome Location	chr19:45303578-45303579
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45303416..45304388-chr19:45349472..45350115,2	K562	blood:
2	chr19:45192137..45193058-chr19:45303449..45304435,2	K562	blood:
3	chr19:45296163..45298803-chr19:45301824..45303970,2	K562	blood:
4	chr19:45297988..45303860-chr19:45347133..45351877,8	MCF-7	breast:
5	chr19:45303472..45304374-chr19:45347688..45348837,4	MCF-7	breast:
6	chr19:45303445..45304423-chr19:45348103..45348767,4	K562	blood:
7	chr19:45287770..45288304-chr19:45303491..45304251,2	MCF-7	breast:
8	chr19:45303436..45304427-chr19:45347545..45348932,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130202	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12609306	0.91[ASN][1000 genomes]
rs28399603	0.91[ASN][1000 genomes]
rs28399608	0.91[ASN][1000 genomes]
rs28742260	0.96[ASN][1000 genomes]
rs2927477	0.82[JPT][hapmap]
rs2968180	0.82[JPT][hapmap]
rs3745159	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs8101274	1.00[JPT][hapmap]
rs922387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284600-45309800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:45285200-45304000	Strong transcription	NHEK	skin
5	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
6	chr19:45296200-45310600	Weak transcription	Colonic Mucosa	Colon
7	chr19:45296800-45311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:45297000-45307200	Weak transcription	Lung	lung
9	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:45297600-45303600	Weak transcription	Fetal Stomach	stomach
11	chr19:45298200-45310200	Weak transcription	Gastric	stomach
12	chr19:45299200-45307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:45299200-45310200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:45300400-45303600	Weak transcription	Left Ventricle	heart
15	chr19:45300400-45304000	Enhancers	A549	lung
16	chr19:45300600-45303600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:45300600-45303600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:45300600-45303600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:45300600-45303600	Weak transcription	Adipose Nuclei	Adipose
20	chr19:45300600-45310400	Weak transcription	Stomach Mucosa	stomach
21	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
22	chr19:45300800-45303600	Weak transcription	Fetal Heart	heart
23	chr19:45301200-45303800	Strong transcription	Esophagus	oesophagus
24	chr19:45301400-45303600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:45301400-45303600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr19:45301800-45303800	Enhancers	GM12878-XiMat	blood
27	chr19:45302000-45304000	Enhancers	Placenta	Placenta
28	chr19:45302000-45304200	Enhancers	Fetal Muscle Trunk	muscle
29	chr19:45302400-45304000	Enhancers	Liver	Liver
30	chr19:45302600-45305600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:45303000-45303800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:45303000-45304000	Flanking Active TSS	HepG2	liver
33	chr19:45303200-45303800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr19:45303200-45303800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr19:45303200-45303800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:45303200-45303800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr19:45303200-45303800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr19:45303200-45303800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr19:45303200-45303800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:45303200-45303800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:45303200-45303800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:45303200-45303800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:45303200-45303800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:45303200-45303800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:45303200-45304000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr19:45303200-45304000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:45303200-45304000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr19:45303200-45304000	Enhancers	Duodenum Mucosa	Duodenum
49	chr19:45303200-45304000	Enhancers	Pancreas	Pancrea
50	chr19:45303200-45304000	Enhancers	Spleen	Spleen

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