Variant report

Variant	rs2927477
Chromosome Location	chr19:45313715-45313716
allele	A/G
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	POLR2A	chr19:45313637-45313732	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:45313346-45314069	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
BCAM	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1075643	0.90[ASN][1000 genomes]
rs12327715	0.90[ASN][1000 genomes]
rs2965112	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2965113	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967669	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2968180	0.89[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs3745159	0.82[JPT][hapmap]
rs748913	0.82[JPT][hapmap]
rs8101274	0.82[JPT][hapmap]
rs922387	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv912119	chr19:45304307-45317089	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv912120	chr19:45304307-45317469	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv912121	chr19:45304307-45319297	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv912122	chr19:45304307-45324516	Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv579861	chr19:45309972-45314395	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv912123	chr19:45310319-45314395	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv579862	chr19:45310319-45316807	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv912124	chr19:45310319-45318564	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv912125	chr19:45310319-45321841	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv579863	chr19:45310319-45322451	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv912126	chr19:45311523-45317089	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv912127	chr19:45312114-45316807	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv912128	chr19:45312114-45321841	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45311400-45314200	Active TSS	Fetal Kidney	kidney
2	chr19:45311800-45314200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:45311800-45314400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:45312000-45313800	Active TSS	Right Atrium	heart
5	chr19:45312200-45314000	Active TSS	HSMMtube	muscle
6	chr19:45312400-45314000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr19:45312400-45314000	Flanking Active TSS	Fetal Muscle Trunk	muscle
8	chr19:45312400-45314000	Flanking Active TSS	Fetal Muscle Leg	muscle
9	chr19:45312400-45314000	Flanking Active TSS	NHEK	skin
10	chr19:45312600-45314200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr19:45312800-45314000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:45312800-45314200	Enhancers	Spleen	Spleen
13	chr19:45313000-45313800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:45313000-45314000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:45313000-45314000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:45313000-45314000	Enhancers	Liver	Liver
17	chr19:45313000-45314000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:45313000-45314000	Enhancers	Fetal Lung	lung
19	chr19:45313000-45314000	Enhancers	Placenta	Placenta
20	chr19:45313000-45316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:45313000-45316600	Weak transcription	HUVEC	blood vessel
22	chr19:45313000-45318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:45313000-45319000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:45313000-45320400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:45313000-45325400	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:45313200-45313800	Flanking Active TSS	Right Ventricle	heart
27	chr19:45313200-45314000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr19:45313200-45314000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr19:45313200-45314400	Flanking Active TSS	HMEC	breast
30	chr19:45313400-45313800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr19:45313400-45314000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr19:45313400-45314000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr19:45313400-45314000	Enhancers	Fetal Brain Male	brain
34	chr19:45313400-45314200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr19:45313400-45314800	Enhancers	Pancreas	Pancrea
36	chr19:45313400-45315400	Weak transcription	Gastric	stomach
37	chr19:45313400-45316400	Weak transcription	NHLF	lung
38	chr19:45313400-45316800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:45313400-45321200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:45313400-45321600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:45313600-45313800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr19:45313600-45313800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr19:45313600-45313800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr19:45313600-45313800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:45313600-45313800	Flanking Active TSS	Aorta	Aorta
46	chr19:45313600-45313800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr19:45313600-45313800	Enhancers	A549	lung
48	chr19:45313600-45314000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:45313600-45314000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:45313600-45314000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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