Variant report

Variant	rs10981694
Chromosome Location	chr9:115986409-115986410
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr9:115986357-115986619	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr9:115986302-115986654	HepG2	liver:	n/a	n/a
3	ZMIZ1	chr9:115986279-115986595	K562	blood:	n/a	n/a
4	POLR2A	chr9:115986405-115986449	HepG2	liver:	n/a	n/a
5	MXI1	chr9:115985936-115986796	IMR90	lung:	n/a	n/a
6	RCOR1	chr9:115986042-115986853	IMR90	lung:	n/a	n/a
7	CHD1	chr9:115985960-115986760	IMR90	lung:	n/a	n/a
8	CEBPB	chr9:115986265-115986697	IMR90	lung:	n/a	n/a
9	FOS	chr9:115986308-115986511	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr9:115986306-115986615	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr9:115986322-115986575	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr9:115986307-115986620	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr9:115986201-115986661	MCF10A-Er-Src	breast:	n/a	chr9:115986477-115986487
14	MAX	chr9:115986349-115986541	NB4	blood:	n/a	chr9:115986477-115986487
15	MYC	chr9:115986299-115986645	MCF10A-Er-Src	breast:	n/a	chr9:115986477-115986487
16	MXI1	chr9:115986372-115986594	HepG2	liver:	n/a	n/a
17	FOXA2	chr9:115986334-115986595	HepG2	liver:	n/a	n/a
18	CEBPB	chr9:115986335-115986514	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:115983573..115985886-chr9:115986006..115988568,3	MCF-7	breast:
2	chr9:115981728..115986983-chr9:116035777..116040437,9	K562	blood:
3	chr9:115982005..115986983-chr9:116035777..116039702,5	K562	blood:
4	chr9:115985715..115987380-chr9:116017322..116019580,2	K562	blood:
5	chr9:115986078..115988319-chr9:115992917..115996032,3	MCF-7	breast:

Variant related genes	Relation type
FKBP15	TF binding region
ENSG00000136875	Chromatin interaction
ENSG00000119321	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000136868	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10981699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10981704	0.84[JPT][hapmap]
rs41280225	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115984400-115986600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:115984800-115994800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr9:115984800-115995400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr9:115985000-115987000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:115985000-115990200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr9:115985000-115994600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:115985000-115994600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:115985000-115994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:115985000-115994800	Weak transcription	Left Ventricle	heart
10	chr9:115985000-115996200	Weak transcription	Brain Substantia Nigra	brain
11	chr9:115985000-116020800	Weak transcription	Aorta	Aorta
12	chr9:115985200-115986800	Weak transcription	Right Atrium	heart
13	chr9:115985200-115987000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:115985200-115987000	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:115985200-115987000	Weak transcription	A549	lung
16	chr9:115985200-115987400	Weak transcription	Right Ventricle	heart
17	chr9:115985200-115987800	Enhancers	Fetal Heart	heart
18	chr9:115985200-115988000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr9:115985200-115988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:115985200-115988800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:115985200-115988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:115985200-115988800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:115985200-115989000	Weak transcription	Fetal Kidney	kidney
24	chr9:115985200-115989200	Weak transcription	Brain Anterior Caudate	brain
25	chr9:115985200-115989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:115985200-115989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:115985200-115990000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr9:115985200-115990200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr9:115985200-115990400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr9:115985200-115991200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:115985200-115991600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:115985200-115992200	Weak transcription	Fetal Brain Female	brain
33	chr9:115985200-115992400	Weak transcription	Brain Angular Gyrus	brain
34	chr9:115985200-115992600	Weak transcription	Lung	lung
35	chr9:115985200-115992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:115985200-115994000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr9:115985200-115994200	Weak transcription	Fetal Brain Male	brain
38	chr9:115985200-115994600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr9:115985200-115994800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr9:115985200-115998000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:115985200-116001800	Weak transcription	Pancreas	Pancrea
42	chr9:115985400-115986600	Flanking Active TSS	HepG2	liver
43	chr9:115985400-115988200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr9:115985400-115989600	Weak transcription	Primary B cells from cord blood	blood
45	chr9:115985400-115989800	Weak transcription	Primary T cells from cord blood	blood
46	chr9:115985400-115994400	Weak transcription	HUVEC	blood vessel
47	chr9:115985400-115995000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:115985400-115995600	Weak transcription	HSMMtube	muscle
49	chr9:115985600-115986600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:115985600-115986600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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