Variant report

Variant	rs28739588
Chromosome Location	chr19:45319297-45319298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
2	chr19:45319025..45321568-chr19:45347128..45349441,3	MCF-7	breast:
3	chr19:45314166..45316980-chr19:45319168..45321407,2	K562	blood:
4	chr19:45309583..45313633-chr19:45318151..45320547,3	K562	blood:

Variant related genes	Relation type
ENSG00000187244	Chromatin interaction
ENSG00000130202	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28399603	0.93[EUR][1000 genomes]
rs28399612	1.00[EUR][1000 genomes]
rs28399613	1.00[EUR][1000 genomes]
rs28399647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28399650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28399652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28739586	1.00[EUR][1000 genomes]
rs2927446	1.00[EUR][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	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
4	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
5	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
6	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
7	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45313000-45320400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr19:45313000-45325400	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:45313400-45321200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr19:45313400-45321600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:45313600-45322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:45313600-45323400	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:45313600-45326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:45313600-45326600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:45314000-45321200	Weak transcription	Liver	Liver
10	chr19:45314000-45323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:45314000-45323600	Weak transcription	HSMMtube	muscle
12	chr19:45314200-45319400	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr19:45314200-45323200	Weak transcription	Right Atrium	heart
14	chr19:45314600-45322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:45314600-45323800	Strong transcription	Fetal Stomach	stomach
16	chr19:45314600-45326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:45315200-45320000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:45315800-45321400	Weak transcription	Colonic Mucosa	Colon
19	chr19:45315800-45324200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:45316800-45321000	Strong transcription	Fetal Intestine Small	intestine
21	chr19:45316800-45324200	Genic enhancers	Fetal Muscle Leg	muscle
22	chr19:45317000-45321000	Weak transcription	Fetal Heart	heart
23	chr19:45317200-45323800	Weak transcription	Esophagus	oesophagus
24	chr19:45317400-45323600	Weak transcription	HUVEC	blood vessel
25	chr19:45317600-45321800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:45317600-45323400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:45317600-45323800	Weak transcription	Placenta	Placenta
28	chr19:45318000-45320400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:45318000-45321200	Weak transcription	A549	lung
30	chr19:45318000-45323400	Weak transcription	Ovary	ovary
31	chr19:45318000-45324000	Weak transcription	NHLF	lung
32	chr19:45318200-45321200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:45318400-45326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:45318600-45320600	Weak transcription	Aorta	Aorta
35	chr19:45318600-45321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:45318600-45321600	Weak transcription	Spleen	Spleen
37	chr19:45318600-45321800	Weak transcription	Pancreas	Pancrea
38	chr19:45318800-45321800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:45318800-45322600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:45318800-45322600	Weak transcription	Left Ventricle	heart
41	chr19:45318800-45323400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:45319000-45320400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:45319000-45321400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:45319000-45322000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr19:45319000-45322000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:45319000-45322200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:45319000-45322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:45319000-45322200	Weak transcription	Fetal Lung	lung
49	chr19:45319000-45322800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:45319000-45324200	Weak transcription	NHEK	skin

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