Variant report

Variant	rs7040217
Chromosome Location	chr9:110043971-110043972
allele	A/C
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	chr9:110042878-110046762	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110042843..110044728-chr9:110074492..110076234,2	K562	blood:

Variant related genes	Relation type
RAD23B	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10113916	0.96[ASN][1000 genomes]
rs10119641	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10122970	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10481632	0.96[ASN][1000 genomes]
rs10739234	0.86[EUR][1000 genomes]
rs10739236	0.98[ASN][1000 genomes]
rs10739238	0.82[EUR][1000 genomes]
rs10816477	0.92[ASN][1000 genomes]
rs10816480	0.93[ASN][1000 genomes]
rs10816483	0.80[EUR][1000 genomes]
rs10816485	0.96[ASN][1000 genomes]
rs10816490	0.96[ASN][1000 genomes]
rs10816491	0.96[ASN][1000 genomes]
rs10816493	0.82[EUR][1000 genomes]
rs10978775	0.92[ASN][1000 genomes]
rs10978776	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10978777	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10978791	0.96[ASN][1000 genomes]
rs12342066	0.92[ASN][1000 genomes]
rs12345455	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12555417	0.92[ASN][1000 genomes]
rs1535765	0.83[EUR][1000 genomes]
rs1805329	0.96[ASN][1000 genomes]
rs1805332	0.82[EUR][1000 genomes]
rs1969798	0.81[EUR][1000 genomes]
rs1980725	0.81[EUR][1000 genomes]
rs2005143	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2147071	0.83[EUR][1000 genomes]
rs2417776	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2417784	0.96[ASN][1000 genomes]
rs28534368	0.96[ASN][1000 genomes]
rs28769087	0.89[ASN][1000 genomes]
rs28848858	0.92[ASN][1000 genomes]
rs4625087	0.82[EUR][1000 genomes]
rs4978844	0.84[EUR][1000 genomes]
rs4978849	0.82[EUR][1000 genomes]
rs61701375	1.00[ASN][1000 genomes]
rs698475	0.96[ASN][1000 genomes]
rs7019341	0.84[EUR][1000 genomes]
rs7029997	0.83[EUR][1000 genomes]
rs7030631	0.83[EUR][1000 genomes]
rs7031906	0.83[EUR][1000 genomes]
rs7035611	0.86[EUR][1000 genomes]
rs7036284	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7038737	0.83[EUR][1000 genomes]
rs7039041	0.83[EUR][1000 genomes]
rs7041137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7043962	0.83[EUR][1000 genomes]
rs7856227	0.83[EUR][1000 genomes]
rs7873745	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs817836	0.96[ASN][1000 genomes]
rs817838	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817839	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817840	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817841	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817843	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817844	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817845	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs817847	0.89[ASN][1000 genomes]
rs817849	0.84[ASN][1000 genomes]
rs817851	0.84[ASN][1000 genomes]
rs942291	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9632893	0.87[ASN][1000 genomes]
rs9969728	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893698	chr9:109998563-110052660	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv508560	chr9:110006490-110060539	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110035600-110044600	Enhancers	Placenta	Placenta
2	chr9:110036400-110044400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:110037800-110044000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:110038000-110044400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:110038000-110044400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:110038000-110044400	Weak transcription	NH-A	brain
7	chr9:110039600-110044400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:110039800-110044400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:110039800-110044400	Weak transcription	Adipose Nuclei	Adipose
10	chr9:110039800-110044400	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:110039800-110044400	Weak transcription	A549	lung
12	chr9:110040000-110044000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:110040200-110044200	Weak transcription	HSMMtube	muscle
14	chr9:110040400-110044000	Weak transcription	HSMM	muscle
15	chr9:110040400-110044200	Weak transcription	Fetal Heart	heart
16	chr9:110040400-110044200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:110040400-110044400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:110040400-110044400	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:110040400-110044600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:110040400-110044600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:110040400-110044600	Weak transcription	Fetal Stomach	stomach
22	chr9:110042200-110044400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:110042200-110044400	Enhancers	NHEK	skin
24	chr9:110042200-110044600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:110042200-110044600	Enhancers	HMEC	breast
26	chr9:110042400-110044400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:110042600-110044600	Enhancers	Fetal Intestine Large	intestine
28	chr9:110042800-110044200	Enhancers	Liver	Liver
29	chr9:110042800-110044800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:110043000-110044400	Enhancers	Fetal Intestine Small	intestine
31	chr9:110043000-110044600	Enhancers	Primary B cells from peripheral blood	blood
32	chr9:110043000-110044600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:110043000-110044800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:110043200-110044400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:110043200-110044400	Enhancers	GM12878-XiMat	blood
36	chr9:110043400-110044400	Weak transcription	NHDF-Ad	bronchial
37	chr9:110043400-110044400	Weak transcription	Osteobl	bone
38	chr9:110043400-110044600	Weak transcription	Psoas Muscle	Psoas
39	chr9:110043400-110045200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr9:110043600-110044000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:110043600-110044000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:110043600-110044000	Weak transcription	NHLF	lung
43	chr9:110043600-110044200	Enhancers	HepG2	liver
44	chr9:110043600-110044400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:110043600-110044400	Enhancers	Primary hematopoietic stem cells	blood
46	chr9:110043600-110044400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr9:110043600-110045000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr9:110043800-110044600	Enhancers	Primary monocytes fromperipheralblood	blood

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