Variant report

Variant	rs10817464
Chromosome Location	chr9:115992497-115992498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115991545..115993932-chr9:115995693..115997298,2	K562	blood:
2	chr9:115990891..115993253-chr9:115993931..115999009,4	K562	blood:
3	chr9:115981837..115986059-chr9:115990865..115995580,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136868	Chromatin interaction
ENSG00000119321	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10759634	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817449	0.82[GIH][hapmap]
rs10817459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10817462	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10817463	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817466	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817469	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817471	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817472	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981674	0.80[EUR][1000 genomes]
rs10981681	0.83[EUR][1000 genomes]
rs10981683	0.83[EUR][1000 genomes]
rs10981690	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10981695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981705	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128116	0.80[EUR][1000 genomes]
rs1128118	0.80[EUR][1000 genomes]
rs1128122	0.83[EUR][1000 genomes]
rs1128150	0.82[GIH][hapmap]
rs12115388	0.80[EUR][1000 genomes]
rs12336832	0.91[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12342549	0.91[ASW][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.80[EUR][1000 genomes]
rs12343330	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12348629	0.80[EUR][1000 genomes]
rs12349495	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12349500	1.00[ASW][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap]
rs12349614	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12350438	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12352784	0.80[EUR][1000 genomes]
rs12352925	0.80[EUR][1000 genomes]
rs17764563	0.83[ASW][hapmap]
rs17831256	0.80[EUR][1000 genomes]
rs28733164	0.80[EUR][1000 genomes]
rs57247612	0.80[EUR][1000 genomes]
rs57348436	0.83[EUR][1000 genomes]
rs58402825	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66509679	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72758255	0.83[EUR][1000 genomes]
rs7858741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
9	nsv1041112	chr9:115960704-116005783	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv893746	chr9:115983540-116022826	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115984800-115994800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr9:115984800-115995400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr9:115985000-115994600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:115985000-115994600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:115985000-115994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:115985000-115994800	Weak transcription	Left Ventricle	heart
7	chr9:115985000-115996200	Weak transcription	Brain Substantia Nigra	brain
8	chr9:115985000-116020800	Weak transcription	Aorta	Aorta
9	chr9:115985200-115992600	Weak transcription	Lung	lung
10	chr9:115985200-115992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:115985200-115994000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:115985200-115994200	Weak transcription	Fetal Brain Male	brain
13	chr9:115985200-115994600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr9:115985200-115994800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:115985200-115998000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:115985200-116001800	Weak transcription	Pancreas	Pancrea
17	chr9:115985400-115994400	Weak transcription	HUVEC	blood vessel
18	chr9:115985400-115995000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:115985400-115995600	Weak transcription	HSMMtube	muscle
20	chr9:115985600-115994600	Weak transcription	NHDF-Ad	bronchial
21	chr9:115985600-115994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:115985600-115995600	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:115985600-115997600	Weak transcription	Brain Germinal Matrix	brain
24	chr9:115985600-116020800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:115985800-115994800	Weak transcription	Placenta	Placenta
26	chr9:115985800-115995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:115985800-115995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:115985800-116018400	Weak transcription	NHEK	skin
29	chr9:115985800-116019000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:115985800-116021000	Weak transcription	Fetal Stomach	stomach
31	chr9:115986400-115995200	Weak transcription	Fetal Lung	lung
32	chr9:115986400-116013000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:115986800-115994400	Weak transcription	GM12878-XiMat	blood
34	chr9:115987000-115995000	Weak transcription	NHLF	lung
35	chr9:115987600-115995200	Weak transcription	Adipose Nuclei	Adipose
36	chr9:115987600-115995400	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:115987600-115995800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:115987600-115998600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:115987600-116017800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr9:115987600-116018200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:115987800-116011000	Weak transcription	A549	lung
42	chr9:115987800-116021000	Weak transcription	Hela-S3	cervix
43	chr9:115989000-116019200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:115989200-116005600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr9:115989400-115992600	Enhancers	HepG2	liver
46	chr9:115989600-115995200	Weak transcription	Osteobl	bone
47	chr9:115990200-115994400	Weak transcription	Primary B cells from cord blood	blood
48	chr9:115990600-115994800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr9:115990600-115995200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr9:115990800-115994000	Weak transcription	Primary monocytes fromperipheralblood	blood

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