Variant report

Variant	rs2005143
Chromosome Location	chr9:110038538-110038539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:110037191..110040266-chr9:110043063..110045811,4	K562	blood:
2	chr9:110030231..110032782-chr9:110035060..110038842,3	MCF-7	breast:
3	chr9:110034708..110043058-chr9:110043083..110050663,16	MCF-7	breast:
4	chr9:110038034..110040721-chr9:110051893..110053905,2	MCF-7	breast:
5	chr9:110037400..110041134-chr9:110041455..110046032,7	K562	blood:
6	chr9:110036136..110039453-chr9:110043491..110047008,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10113916	0.82[ASN][1000 genomes]
rs10119641	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10122970	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10481632	0.84[ASN][1000 genomes]
rs10739234	0.83[EUR][1000 genomes]
rs10739236	0.84[ASN][1000 genomes]
rs10816477	0.95[ASN][1000 genomes]
rs10816480	0.94[ASN][1000 genomes]
rs10816485	0.84[ASN][1000 genomes]
rs10816490	0.82[ASN][1000 genomes]
rs10816491	0.82[ASN][1000 genomes]
rs10978775	0.95[ASN][1000 genomes]
rs10978776	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10978777	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10978791	0.82[ASN][1000 genomes]
rs12342066	0.95[ASN][1000 genomes]
rs12345455	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12555417	0.95[ASN][1000 genomes]
rs1535765	0.80[EUR][1000 genomes]
rs1805329	0.82[ASN][1000 genomes]
rs2147071	0.80[EUR][1000 genomes]
rs2417776	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2417784	0.82[ASN][1000 genomes]
rs28534368	0.84[ASN][1000 genomes]
rs28769087	0.92[ASN][1000 genomes]
rs28848858	0.95[ASN][1000 genomes]
rs4978844	0.81[EUR][1000 genomes]
rs61701375	0.86[ASN][1000 genomes]
rs698475	0.82[ASN][1000 genomes]
rs7019341	0.81[EUR][1000 genomes]
rs7029997	0.80[EUR][1000 genomes]
rs7030631	0.80[EUR][1000 genomes]
rs7031906	0.80[EUR][1000 genomes]
rs7035611	0.83[EUR][1000 genomes]
rs7036284	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7038737	0.80[EUR][1000 genomes]
rs7039041	0.80[EUR][1000 genomes]
rs7040217	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7041137	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7043962	0.80[EUR][1000 genomes]
rs7856227	0.80[EUR][1000 genomes]
rs7867544	0.80[ASN][1000 genomes]
rs7873745	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs817836	0.82[ASN][1000 genomes]
rs817838	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817839	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817840	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817841	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817843	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817844	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817845	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942291	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969728	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110035600-110039400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:110035600-110040200	Enhancers	NHLF	lung
3	chr9:110035600-110040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:110035600-110040400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:110035600-110044600	Enhancers	Placenta	Placenta
6	chr9:110035800-110040200	Enhancers	HSMMtube	muscle
7	chr9:110035800-110040400	Enhancers	Fetal Heart	heart
8	chr9:110036000-110038800	Enhancers	HSMM	muscle
9	chr9:110036000-110039800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:110036000-110040000	Enhancers	Osteobl	bone
11	chr9:110036200-110039200	Enhancers	Adipose Nuclei	Adipose
12	chr9:110036200-110040400	Enhancers	Fetal Muscle Leg	muscle
13	chr9:110036400-110044400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:110037000-110038600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:110037600-110038600	Weak transcription	Fetal Stomach	stomach
16	chr9:110037800-110038800	Weak transcription	Left Ventricle	heart
17	chr9:110037800-110038800	Weak transcription	Ovary	ovary
18	chr9:110037800-110040000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:110037800-110044000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:110038000-110039200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:110038000-110039400	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:110038000-110039400	Weak transcription	A549	lung
23	chr9:110038000-110039800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:110038000-110040000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:110038000-110042200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:110038000-110042200	Weak transcription	NHEK	skin
27	chr9:110038000-110043000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:110038000-110044400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:110038000-110044400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:110038000-110044400	Weak transcription	NH-A	brain
31	chr9:110038200-110040000	Enhancers	NHDF-Ad	bronchial
32	chr9:110038200-110042200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:110038200-110042200	Weak transcription	HMEC	breast
34	chr9:110038400-110038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:110038400-110038800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:110038400-110043200	Weak transcription	GM12878-XiMat	blood

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