Variant report

Variant	rs28399651
Chromosome Location	chr19:45314395-45314396
allele	A/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	POLR2A	chr19:45314327-45314402	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45314362..45315171-chr19:45348110..45348929,2	K562	blood:

Variant related genes	Relation type
BCAM	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs960483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45311800-45314400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr19:45313000-45316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:45313000-45316600	Weak transcription	HUVEC	blood vessel
4	chr19:45313000-45318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:45313000-45319000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:45313000-45320400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:45313000-45325400	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:45313200-45314400	Flanking Active TSS	HMEC	breast
9	chr19:45313400-45314800	Enhancers	Pancreas	Pancrea
10	chr19:45313400-45315400	Weak transcription	Gastric	stomach
11	chr19:45313400-45316400	Weak transcription	NHLF	lung
12	chr19:45313400-45316800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:45313400-45321200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:45313400-45321600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:45313600-45314400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:45313600-45314400	Enhancers	Lung	lung
17	chr19:45313600-45314400	Flanking Active TSS	HepG2	liver
18	chr19:45313600-45314600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:45313600-45314600	Genic enhancers	Fetal Stomach	stomach
20	chr19:45313600-45314800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr19:45313600-45315600	Weak transcription	Colonic Mucosa	Colon
22	chr19:45313600-45316600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:45313600-45317000	Enhancers	Fetal Heart	heart
24	chr19:45313600-45322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr19:45313600-45323400	Weak transcription	Colon Smooth Muscle	Colon
26	chr19:45313600-45326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:45313600-45326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:45313800-45314400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:45313800-45314400	Weak transcription	Aorta	Aorta
30	chr19:45313800-45314800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:45313800-45314800	Genic enhancers	Right Ventricle	heart
32	chr19:45313800-45316800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:45313800-45316800	Weak transcription	A549	lung
34	chr19:45314000-45314400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:45314000-45314400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:45314000-45314400	Enhancers	Stomach Smooth Muscle	stomach
37	chr19:45314000-45314600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:45314000-45314600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:45314000-45314600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr19:45314000-45314600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr19:45314000-45314800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr19:45314000-45315600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:45314000-45316400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:45314000-45316400	Weak transcription	Left Ventricle	heart
45	chr19:45314000-45316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:45314000-45316800	Weak transcription	Fetal Lung	lung
47	chr19:45314000-45316800	Weak transcription	Placenta	Placenta
48	chr19:45314000-45318600	Weak transcription	Fetal Brain Male	brain
49	chr19:45314000-45321200	Weak transcription	Liver	Liver
50	chr19:45314000-45323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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