Variant report

Variant	rs28413575
Chromosome Location	chr9:98227233-98227234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr9:98227050-98227243	HepG2	liver:	n/a	n/a
2	MAFK	chr9:98227066-98227245	K562	blood:	n/a	n/a
3	MAFF	chr9:98226974-98227282	K562	blood:	n/a	n/a
4	BACH1	chr9:98227166-98227236	K562	blood:	n/a	n/a
5	MAFK	chr9:98226972-98227244	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98222216..98224760-chr9:98225950..98227870,2	MCF-7	breast:
2	chr9:98223555..98229775-chr9:98269693..98275962,10	K562	blood:
3	chr9:98218910..98222494-chr9:98224731..98227835,5	K562	blood:
4	chr9:98222977..98229750-chr9:98267050..98274823,12	K562	blood:
5	chr9:98227014..98229023-chr9:98271434..98274318,2	MCF-7	breast:
6	chr9:98223412..98227347-chr9:98253313..98257210,3	K562	blood:

No data

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000271314	Chromatin interaction
ENSG00000185920	Chromatin interaction
ENSG00000271155	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16905572	0.97[ASN][1000 genomes]
rs2236405	0.94[ASN][1000 genomes]
rs2274690	0.96[ASN][1000 genomes]
rs2277183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277184	0.94[ASN][1000 genomes]
rs28735184	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3824487	0.94[ASN][1000 genomes]
rs45593537	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv949520	chr9:98204199-98238358	Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1053762	chr9:98208542-98232120	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1047465	chr9:98217524-98228225	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98206000-98237600	Weak transcription	Psoas Muscle	Psoas
2	chr9:98218800-98227400	Genic enhancers	Fetal Stomach	stomach
3	chr9:98221800-98232400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:98223400-98266400	Weak transcription	Hela-S3	cervix
5	chr9:98223600-98227600	Weak transcription	A549	lung
6	chr9:98224000-98228800	Weak transcription	Liver	Liver
7	chr9:98224200-98227600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:98224200-98228000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:98224200-98228800	Weak transcription	Right Ventricle	heart
10	chr9:98224200-98229000	Weak transcription	Esophagus	oesophagus
11	chr9:98224400-98228800	Weak transcription	HepG2	liver
12	chr9:98224600-98228800	Weak transcription	Aorta	Aorta
13	chr9:98225000-98228200	Genic enhancers	Fetal Lung	lung
14	chr9:98225000-98228800	Weak transcription	Lung	lung
15	chr9:98225200-98229000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:98225600-98229200	Weak transcription	Spleen	Spleen
17	chr9:98225600-98234000	Weak transcription	Right Atrium	heart
18	chr9:98225800-98227400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:98225800-98227400	Weak transcription	Adipose Nuclei	Adipose
20	chr9:98225800-98227400	Enhancers	Brain Hippocampus Middle	brain
21	chr9:98225800-98227400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:98225800-98228800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:98225800-98228800	Enhancers	Brain Germinal Matrix	brain
24	chr9:98225800-98229000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:98225800-98229000	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:98225800-98239600	Weak transcription	HMEC	breast
27	chr9:98225800-98239800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:98225800-98244000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:98226000-98227800	Genic enhancers	K562	blood
30	chr9:98226000-98228000	Weak transcription	Left Ventricle	heart
31	chr9:98226000-98228400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:98226000-98229000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:98226000-98229000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr9:98226000-98229200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:98226000-98229400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr9:98226000-98248400	Weak transcription	HUVEC	blood vessel
37	chr9:98226000-98251000	Weak transcription	Osteobl	bone
38	chr9:98226200-98227600	Weak transcription	HSMM	muscle
39	chr9:98226200-98228000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:98226200-98228200	Genic enhancers	Brain Substantia Nigra	brain
41	chr9:98226200-98228800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:98226200-98229000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:98226200-98229000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:98226200-98229000	Weak transcription	Colonic Mucosa	Colon
45	chr9:98226200-98229000	Weak transcription	Pancreas	Pancrea
46	chr9:98226200-98229000	Weak transcription	HSMMtube	muscle
47	chr9:98226200-98229200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr9:98226200-98229200	Weak transcription	Fetal Heart	heart
49	chr9:98226200-98229600	Weak transcription	Placenta	Placenta
50	chr9:98226200-98230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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