Variant report

Variant	rs10981683
Chromosome Location	chr9:115960547-115960548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115959480..115961457-chr9:115966488..115968182,2	K562	blood:
2	chr9:115952251..115954367-chr9:115960312..115963132,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10759634	0.83[EUR][1000 genomes]
rs10817446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap]
rs10817449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs10817450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10817459	0.88[EUR][1000 genomes]
rs10817464	0.85[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs10981648	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs10981650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap]
rs10981655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10981656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10981659	1.00[ASN][1000 genomes]
rs10981660	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10981674	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981690	0.83[EUR][1000 genomes]
rs10981695	0.83[EUR][1000 genomes]
rs1128116	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128118	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128122	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12115388	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340409	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12350438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs12378957	1.00[ASN][1000 genomes]
rs3923601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap]
rs3923602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap]
rs3935394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3935395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4273923	1.00[ASN][1000 genomes]
rs4342685	0.86[GIH][hapmap]
rs57247612	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57348436	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7467882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7858741	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh 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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv893745	chr9:115955271-116005783	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115920000-115970200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:115920000-115973400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr9:115920400-115973400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr9:115920800-115966400	Strong transcription	Dnd41	blood
5	chr9:115920800-115975000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:115923400-115976400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr9:115924000-115965800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:115924200-115969600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:115927600-115973400	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:115936800-115982400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:115941200-115968600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr9:115941200-115969200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:115945400-115977200	Weak transcription	Stomach Mucosa	stomach
14	chr9:115945600-115982800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:115946000-115963600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:115949800-115961800	Weak transcription	Small Intestine	intestine
17	chr9:115950400-115972800	Weak transcription	Right Ventricle	heart
18	chr9:115950600-115968600	Weak transcription	Fetal Heart	heart
19	chr9:115950600-115982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:115950800-115961800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:115950800-115963400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr9:115950800-115963600	Weak transcription	Spleen	Spleen
23	chr9:115950800-115982800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:115951000-115972200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:115951000-115972200	Weak transcription	Gastric	stomach
26	chr9:115951000-115972200	Weak transcription	Pancreas	Pancrea
27	chr9:115951000-115974000	Strong transcription	Placenta	Placenta
28	chr9:115951000-115982800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr9:115951200-115964800	Weak transcription	Fetal Brain Male	brain
30	chr9:115951400-115961800	Weak transcription	NHEK	skin
31	chr9:115951400-115967800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:115952200-115968000	Strong transcription	GM12878-XiMat	blood
33	chr9:115952200-115974400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:115952400-115962600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:115952400-115962600	Strong transcription	Fetal Thymus	thymus
36	chr9:115952400-115962600	Strong transcription	Left Ventricle	heart
37	chr9:115952400-115965800	Strong transcription	Primary T cells from cord blood	blood
38	chr9:115952400-115973400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:115952400-115973600	Strong transcription	Adipose Nuclei	Adipose
40	chr9:115952400-115974400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:115953000-115961200	Weak transcription	Hela-S3	cervix
42	chr9:115953400-115967200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr9:115953600-115967600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr9:115954000-115965400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:115954600-115965200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr9:115954600-115973600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:115955600-115961400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr9:115956000-115973400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:115956200-115971800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr9:115956400-115962600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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