Variant report

Variant	rs72744454
Chromosome Location	chr9:94489964-94489965
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94488540..94490420-chr9:94643419..94645317,2	MCF-7	breast:
2	chr9:94484405..94487196-chr9:94488976..94490889,3	K562	blood:
3	chr9:94443698..94444273-chr9:94489525..94490151,2	MCF-7	breast:
4	chr9:94484329..94487574-chr9:94487693..94490602,4	K562	blood:
5	chr9:94489892..94493220-chr9:94493878..94496839,3	K562	blood:
6	chr9:94443775..94444780-chr9:94489270..94490122,5	MCF-7	breast:
7	chr9:94438368..94439024-chr9:94489641..94490166,2	MCF-7	breast:
8	chr9:94421841..94422768-chr9:94489284..94490557,7	MCF-7	breast:
9	chr9:94443853..94444396-chr9:94489639..94490481,2	K562	blood:

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16907720	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7031600	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72744464	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72744465	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72744467	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72744472	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72744473	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs72744474	0.88[AMR][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	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94477200-94496800	Weak transcription	NHLF	lung
2	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
3	chr9:94482400-94491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:94483000-94496600	Strong transcription	Fetal Stomach	stomach
5	chr9:94483400-94501600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:94483600-94504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:94485600-94491600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:94485800-94498400	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:94486800-94493000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:94486800-94496800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:94486800-94517400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:94487000-94496600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:94487000-94502200	Weak transcription	Esophagus	oesophagus
16	chr9:94487000-94535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:94487200-94496800	Weak transcription	Spleen	Spleen
18	chr9:94487200-94497000	Weak transcription	Colonic Mucosa	Colon
19	chr9:94487600-94493800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:94487600-94496600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:94487800-94493000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:94488200-94490000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:94488200-94496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:94488400-94491400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:94488600-94491000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:94489000-94492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:94489000-94493000	Weak transcription	Gastric	stomach
28	chr9:94489000-94508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:94489200-94491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:94489400-94490000	Enhancers	Fetal Intestine Large	intestine
31	chr9:94489400-94490000	Genic enhancers	Stomach Smooth Muscle	stomach
32	chr9:94489400-94490200	Genic enhancers	Fetal Intestine Small	intestine
33	chr9:94489400-94490200	Enhancers	A549	lung
34	chr9:94489400-94492200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:94489600-94490200	Enhancers	Ovary	ovary
36	chr9:94489600-94491000	Weak transcription	Colon Smooth Muscle	Colon
37	chr9:94489800-94490000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:94489800-94490000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:94489800-94490000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:94489800-94490000	Weak transcription	Fetal Lung	lung
41	chr9:94489800-94490000	Enhancers	Left Ventricle	heart
42	chr9:94489800-94490000	Enhancers	NHDF-Ad	bronchial
43	chr9:94489800-94490200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:94489800-94490200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:94489800-94490200	Enhancers	Pancreas	Pancrea
46	chr9:94489800-94490200	Enhancers	Hela-S3	cervix
47	chr9:94489800-94490400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:94489800-94490400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:94489800-94490400	Enhancers	Right Atrium	heart
50	chr9:94489800-94491200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links