Variant report

Variant	rs28399624
Chromosome Location	chr19:45321604-45321605
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	chr19:45320594-45324393	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:45320998-45321725	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
BCAM	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28399597	1.00[AMR][1000 genomes]
rs28399619	0.84[AFR][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	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	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
4	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
5	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
6	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
7	esv3332339	chr19:45321161-45351386	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45313000-45325400	Weak transcription	Brain Hippocampus Middle	brain
2	chr19:45313600-45322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr19:45313600-45323400	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:45313600-45326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:45313600-45326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:45314000-45323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:45314000-45323600	Weak transcription	HSMMtube	muscle
8	chr19:45314200-45323200	Weak transcription	Right Atrium	heart
9	chr19:45314600-45322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:45314600-45323800	Strong transcription	Fetal Stomach	stomach
11	chr19:45314600-45326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:45315800-45324200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:45316800-45324200	Genic enhancers	Fetal Muscle Leg	muscle
14	chr19:45317200-45323800	Weak transcription	Esophagus	oesophagus
15	chr19:45317400-45323600	Weak transcription	HUVEC	blood vessel
16	chr19:45317600-45321800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:45317600-45323400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:45317600-45323800	Weak transcription	Placenta	Placenta
19	chr19:45318000-45323400	Weak transcription	Ovary	ovary
20	chr19:45318000-45324000	Weak transcription	NHLF	lung
21	chr19:45318400-45326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:45318600-45321800	Weak transcription	Pancreas	Pancrea
23	chr19:45318800-45321800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:45318800-45322600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr19:45318800-45322600	Weak transcription	Left Ventricle	heart
26	chr19:45318800-45323400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:45319000-45322000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:45319000-45322000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:45319000-45322200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:45319000-45322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:45319000-45322200	Weak transcription	Fetal Lung	lung
32	chr19:45319000-45322800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:45319000-45324200	Weak transcription	NHEK	skin
34	chr19:45319000-45326400	Weak transcription	Gastric	stomach
35	chr19:45319000-45326800	Weak transcription	Fetal Kidney	kidney
36	chr19:45319200-45322600	Weak transcription	Right Ventricle	heart
37	chr19:45319200-45323400	Weak transcription	Adipose Nuclei	Adipose
38	chr19:45319200-45325400	Weak transcription	HMEC	breast
39	chr19:45319200-45326400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:45320000-45322000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:45320600-45321800	Enhancers	HepG2	liver
42	chr19:45320600-45322400	Enhancers	Fetal Intestine Large	intestine
43	chr19:45320600-45322600	Strong transcription	Lung	lung
44	chr19:45320600-45323000	Strong transcription	Aorta	Aorta
45	chr19:45320600-45324200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr19:45320800-45324200	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr19:45321000-45324200	Genic enhancers	Fetal Intestine Small	intestine
48	chr19:45321000-45327000	Enhancers	Fetal Heart	heart
49	chr19:45321200-45322000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr19:45321200-45322200	Enhancers	Duodenum Mucosa	Duodenum

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