Variant report

Variant	rs10991904
Chromosome Location	chr9:94123075-94123076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:94122616-94125032	SK-N-SH	brain:	n/a	n/a
2	SIN3A	chr9:94122928-94124653	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr9:94122889-94124636	H1-neurons	neurons:	n/a	n/a
4	TEAD4	chr9:94123075-94123454	H1-hESC	embryonic stem cell:	n/a	n/a
5	SPI1	chr9:94122884-94123172	GM12891	blood:	n/a	n/a
6	RCOR1	chr9:94122983-94123288	K562	blood:	n/a	n/a
7	RAD21	chr9:94123032-94123852	Hela-S3	cervix:	n/a	n/a
8	HCFC1	chr9:94123014-94124636	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr9:94122906-94124528	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr9:94123013-94123457	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:94122805-94124540	H1-hESC	embryonic stem cell:	n/a	n/a
12	SPI1	chr9:94122956-94123137	GM12878	blood:	n/a	n/a
13	BHLHE40	chr9:94122895-94123198	GM12878	blood:	n/a	n/a
14	EBF1	chr9:94122903-94123799	GM12878	blood:	n/a	chr9:94123592-94123605 chr9:94123592-94123603
15	SPI1	chr9:94122904-94123219	GM12891	blood:	n/a	n/a
16	POLR2A	chr9:94122804-94124579	MCF10A-Er-Src	breast:	n/a	n/a
17	SPI1	chr9:94122852-94123236	GM12878	blood:	n/a	n/a
18	RUNX3	chr9:94122861-94123221	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94118243..94121111-chr9:94121420..94123747,2	MCF-7	breast:
2	chr9:94122646..94126004-chr9:94185203..94187645,6	MCF-7	breast:
3	chr9:93959750..93961882-chr9:94121877..94124140,2	K562	blood:
4	chr9:94121700..94124113-chr9:94130067..94131901,2	K562	blood:
5	chr9:94120744..94125236-chr9:94184262..94187726,6	K562	blood:
6	chr9:94122021..94124488-chr9:94184872..94187456,5	MCF-7	breast:
7	chr9:94122308..94125236-chr9:94184727..94188096,6	K562	blood:
8	chr9:93954102..93956914-chr9:94120904..94123589,2	K562	blood:
9	chr9:94099292..94101832-chr9:94122617..94124149,2	MCF-7	breast:
10	chr9:94108222..94110620-chr9:94122202..94123731,2	MCF-7	breast:

No data

Variant related genes	Relation type
AUH	TF binding region
ENSG00000148090	Chromatin interaction
ENSG00000165030	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1022141	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10512209	1.00[ASW][hapmap];0.87[CHD][hapmap];0.90[MEX][hapmap];1.00[AFR][1000 genomes]
rs10991842	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991845	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991846	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991847	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991852	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991856	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991857	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991863	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991867	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991868	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991871	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991874	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10991876	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10991879	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10991883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10991884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10991885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10991886	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10991887	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10991892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10991893	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10991894	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10991895	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10991896	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10991897	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10991901	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10991903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10991906	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[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991921	0.80[JPT][hapmap]
rs12238387	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16907250	1.00[AFR][1000 genomes]
rs16907269	0.84[ASN][1000 genomes]
rs16907273	0.84[ASN][1000 genomes]
rs16907280	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs16907293	1.00[AFR][1000 genomes]
rs16907311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16907384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16907447	0.80[JPT][hapmap]
rs2281922	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2292365	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811122	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811124	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851540	1.00[AFR][1000 genomes]
rs4430195	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4537426	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7868771	1.00[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94104800-94123600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:94120600-94123400	Flanking Active TSS	GM12878-XiMat	blood
3	chr9:94122000-94123200	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr9:94122000-94123200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr9:94122000-94123400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr9:94122200-94123200	Enhancers	Primary B cells from peripheral blood	blood
7	chr9:94122200-94123400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:94122400-94123200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:94122400-94123200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr9:94122400-94123200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:94122400-94123200	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr9:94122400-94123200	Flanking Active TSS	Fetal Brain Male	brain
13	chr9:94122400-94123200	Flanking Active TSS	NHLF	lung
14	chr9:94122400-94123400	Flanking Active TSS	Liver	Liver
15	chr9:94122400-94123400	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr9:94122400-94123400	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr9:94122400-94123400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr9:94122400-94123400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr9:94122400-94123400	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr9:94122400-94123400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr9:94122400-94123400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr9:94122400-94123400	Flanking Active TSS	Dnd41	blood
23	chr9:94122400-94123400	Flanking Active TSS	Hela-S3	cervix
24	chr9:94122400-94123600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:94122400-94123800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:94122600-94123200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr9:94122600-94123200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:94122600-94123200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:94122600-94123200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:94122600-94123200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:94122600-94123200	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr9:94122600-94123200	Flanking Active TSS	Fetal Kidney	kidney
33	chr9:94122600-94123200	Flanking Active TSS	Psoas Muscle	Psoas
34	chr9:94122600-94123400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:94122600-94123400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr9:94122600-94123400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:94122600-94123400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr9:94122600-94123400	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr9:94122600-94123400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr9:94122600-94123400	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr9:94122600-94123400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr9:94122600-94123400	Flanking Active TSS	Stomach Mucosa	stomach
43	chr9:94122600-94123400	Flanking Active TSS	Thymus	Thymus
44	chr9:94122600-94123400	Flanking Active TSS	HMEC	breast
45	chr9:94122600-94123400	Flanking Active TSS	NHEK	skin
46	chr9:94122600-94123400	Flanking Active TSS	Osteobl	bone
47	chr9:94122600-94123600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:94122600-94123600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr9:94122600-94123600	Flanking Active TSS	HUVEC	blood vessel
50	chr9:94122600-94123800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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