Variant report

Variant	rs17188758
Chromosome Location	chr9:104318810-104318811
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10512282	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11788114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11789610	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11790230	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11790317	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11790832	0.88[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11791337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11793752	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11793946	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs1323432	0.88[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16920443	0.86[EUR][1000 genomes]
rs16920462	0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57596144	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59782949	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61051202	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61396182	0.86[EUR][1000 genomes]
rs61685305	0.86[EUR][1000 genomes]
rs62575808	0.81[EUR][1000 genomes]
rs62575815	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62575836	0.84[AFR][1000 genomes]
rs62575837	0.84[AFR][1000 genomes]
rs62575839	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62575842	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62575845	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575846	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62575847	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62575848	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62575849	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62575850	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62575851	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62575852	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62577397	0.81[EUR][1000 genomes]
rs66786600	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67248872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7045287	1.00[MEX][hapmap];0.95[TSI][hapmap]
rs72745305	0.84[AFR][1000 genomes]
rs7859863	0.88[AFR][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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1052492	chr9:104263419-104387782	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv893627	chr9:104268342-104334333	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv831672	chr9:104300755-104480849	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104296800-104334200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:104296800-104337400	Weak transcription	Stomach Mucosa	stomach
3	chr9:104297600-104321200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:104297600-104330400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:104297600-104330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:104297800-104320400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:104297800-104320400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:104297800-104325400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr9:104297800-104332600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:104297800-104333000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr9:104298000-104332800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr9:104298200-104328200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr9:104298200-104333200	Strong transcription	Adipose Nuclei	Adipose
14	chr9:104298400-104320000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:104298400-104333200	Strong transcription	Liver	Liver
16	chr9:104298400-104333400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr9:104298600-104325000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:104299000-104333000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:104299200-104324200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:104299200-104330400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:104299600-104321000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr9:104300800-104323400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr9:104300800-104327000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr9:104301000-104320200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:104301200-104328800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr9:104301400-104323800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr9:104301600-104333400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:104301800-104320400	Strong transcription	Fetal Brain Female	brain
29	chr9:104301800-104331800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:104302200-104320800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr9:104302200-104333000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr9:104305400-104320600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:104305600-104320600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr9:104305600-104321600	Strong transcription	Dnd41	blood
35	chr9:104305600-104325200	Strong transcription	Brain Hippocampus Middle	brain
36	chr9:104305600-104328600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:104305800-104320800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:104306000-104329400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:104306200-104328000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:104306800-104322200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:104307000-104320600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:104307000-104328400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:104310000-104326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:104311800-104332400	Strong transcription	Fetal Intestine Large	intestine
45	chr9:104312200-104321200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:104312600-104320800	Strong transcription	Osteobl	bone
47	chr9:104312600-104325800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:104312800-104320800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:104312800-104325400	Strong transcription	Fetal Lung	lung
50	chr9:104313200-104335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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