Variant report

Variant	rs10217194
Chromosome Location	chr9:2833267-2833268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2831983..2837089-chr9:2838426..2842467,6	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10116824	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs10121671	0.87[CEU][hapmap]
rs10125846	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10733433	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10738791	0.84[CEU][hapmap]
rs10738792	0.92[CEU][hapmap];0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10757713	0.92[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10757715	0.81[CEU][hapmap]
rs10757741	0.83[CHD][hapmap]
rs10812760	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10968361	0.81[CEU][hapmap];0.80[GIH][hapmap]
rs1393043	0.84[ASN][1000 genomes]
rs1393044	0.96[ASN][1000 genomes]
rs1875440	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1875441	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2173904	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap]
rs2292000	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739460	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3824350	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3824351	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[GIH][hapmap]
rs3858032	0.83[CHB][hapmap];0.90[CHD][hapmap];0.83[MEX][hapmap]
rs4439183	0.85[CEU][hapmap];0.80[GIH][hapmap]
rs6476038	0.89[CEU][hapmap]
rs6476047	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7036752	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv892079	chr9:2681430-2931341	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv892081	chr9:2691186-2851026	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv892082	chr9:2699606-2833267	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1024262	chr9:2703159-3067931	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	15 gene(s)	inside rSNPs	diseases
8	nsv1028011	chr9:2759097-2904277	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1022873	chr9:2768825-2863264	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv892083	chr9:2809548-2900651	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2798000-2837400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr9:2801200-2838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:2801600-2837200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:2811600-2842800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:2814800-2838200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:2815200-2837200	Strong transcription	HMEC	breast
7	chr9:2815200-2837400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:2815600-2838200	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr9:2815800-2837400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:2815800-2837800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:2818200-2837400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr9:2819600-2838200	Weak transcription	Fetal Heart	heart
13	chr9:2819600-2841800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:2820000-2837200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:2820200-2837800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:2822200-2838800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:2822400-2838400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:2822400-2838600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:2822800-2837200	Strong transcription	HSMM	muscle
20	chr9:2823000-2833400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr9:2823200-2837200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:2823400-2837400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:2823400-2837400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr9:2823400-2837400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:2823400-2837600	Strong transcription	HUVEC	blood vessel
26	chr9:2823400-2837600	Strong transcription	NH-A	brain
27	chr9:2823600-2837600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr9:2823600-2838000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:2823800-2837400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr9:2823800-2838000	Strong transcription	NHDF-Ad	bronchial
31	chr9:2824000-2833400	Strong transcription	Fetal Lung	lung
32	chr9:2824000-2837200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:2824000-2837200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr9:2824000-2837400	Strong transcription	Primary B cells from cord blood	blood
35	chr9:2824000-2837400	Strong transcription	Primary T cells from cord blood	blood
36	chr9:2824000-2837400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr9:2824000-2837400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr9:2824000-2837400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr9:2824000-2837400	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr9:2824000-2837400	Strong transcription	Adipose Nuclei	Adipose
41	chr9:2824000-2837400	Strong transcription	Liver	Liver
42	chr9:2824000-2837400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr9:2824000-2837400	Strong transcription	Fetal Muscle Leg	muscle
44	chr9:2824000-2837400	Strong transcription	Fetal Thymus	thymus
45	chr9:2824000-2837400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:2824000-2837400	Strong transcription	GM12878-XiMat	blood
47	chr9:2824000-2837400	Strong transcription	Hela-S3	cervix
48	chr9:2824000-2837600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr9:2824000-2837600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr9:2824000-2838200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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