Variant report

Variant	rs754222
Chromosome Location	chr9:101571153-101571154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101568546..101571235-chr9:101609367..101611059,3	MCF-7	breast:
2	chr9:101570471..101572096-chr9:101573818..101575342,2	K562	blood:
3	chr9:101570786..101573911-chr9:101592967..101596373,4	K562	blood:
4	chr9:101568879..101571340-chr9:101705382..101708339,2	K562	blood:
5	chr9:101556573..101560424-chr9:101566029..101574080,12	MCF-7	breast:
6	chr9:101550194..101555244-chr9:101566657..101571786,8	MCF-7	breast:
7	chr9:101551293..101553847-chr9:101568036..101571328,4	K562	blood:
8	chr9:101570706..101573424-chr9:101594873..101597153,4	K562	blood:
9	chr9:101570653..101573493-chr9:101866236..101867897,2	K562	blood:
10	chr9:101555483..101562112-chr9:101568669..101573087,9	K562	blood:
11	chr9:101570303..101574512-chr9:101580563..101586059,9	K562	blood:
12	chr9:101557242..101560519-chr9:101566443..101572716,8	MCF-7	breast:
13	chr9:101552233..101554875-chr9:101569362..101571456,2	K562	blood:
14	chr9:101571089..101573557-chr9:101759747..101761480,2	MCF-7	breast:
15	chr9:101550225..101553756-chr9:101569289..101571539,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119514	Chromatin interaction
ENSG00000106799	Chromatin interaction
ENSG00000204291	Chromatin interaction
ENSG00000270412	Chromatin interaction
ENSG00000165138	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10119228	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10125255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10739704	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10987230	1.00[CEU][hapmap]
rs10987234	1.00[CEU][hapmap]
rs10987293	1.00[CEU][hapmap]
rs10987843	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1167771	1.00[CEU][hapmap]
rs1555520	1.00[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];0.97[ASN][1000 genomes]
rs1555522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs180038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs180039	0.89[ASN][1000 genomes]
rs182877	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1930130	1.00[CEU][hapmap]
rs2058881	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2295922	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2778916	1.00[CEU][hapmap]
rs2778919	1.00[CEU][hapmap]
rs2779539	1.00[CEU][hapmap]
rs337527	1.00[CEU][hapmap]
rs337564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337566	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337567	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337568	0.89[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs337571	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs337583	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337589	0.90[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs337590	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs371521	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4133240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4133831	0.87[EUR][1000 genomes]
rs429562	0.87[EUR][1000 genomes]
rs439347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs453409	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4742740	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4742742	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4743274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4743279	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4743280	1.00[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];0.97[ASN][1000 genomes]
rs4743283	0.82[EUR][1000 genomes]
rs48418	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs507318	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6415847	0.90[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6415849	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs692824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7029599	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7039118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7846846	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7861840	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7867234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7867317	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409306	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs967932	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3410897	chr9:101569181-101571179	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101569200-101571200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr9:101569600-101571200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr9:101569600-101571200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr9:101569600-101571200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr9:101569600-101571600	Active TSS	Rectal Smooth Muscle	rectum
6	chr9:101570200-101571200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:101570200-101571200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr9:101570200-101571400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr9:101570200-101571400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:101570200-101571400	Active TSS	Stomach Mucosa	stomach
11	chr9:101570400-101571200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:101570400-101571200	Enhancers	Spleen	Spleen
13	chr9:101570400-101572200	Weak transcription	HSMMtube	muscle
14	chr9:101570600-101571200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:101570600-101571200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:101570600-101571200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:101570600-101571200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr9:101570600-101571200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:101570600-101571200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr9:101570600-101571200	Flanking Active TSS	NHDF-Ad	bronchial
21	chr9:101570600-101571400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
22	chr9:101570600-101571600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:101570600-101571600	Flanking Active TSS	Colonic Mucosa	Colon
24	chr9:101570600-101571600	Bivalent Enhancer	Placenta	Placenta
25	chr9:101570600-101572000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr9:101570600-101572200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr9:101570600-101573000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:101570600-101573200	Flanking Active TSS	K562	blood
29	chr9:101570800-101571200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:101570800-101571200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr9:101570800-101571200	Enhancers	Primary B cells from cord blood	blood
32	chr9:101570800-101571200	Enhancers	Brain Angular Gyrus	brain
33	chr9:101570800-101571200	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr9:101570800-101571200	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr9:101570800-101571200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr9:101570800-101571200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr9:101570800-101571200	Enhancers	Psoas Muscle	Psoas
38	chr9:101570800-101571200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr9:101570800-101571200	Enhancers	Right Atrium	heart
40	chr9:101570800-101571200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
41	chr9:101570800-101571200	Enhancers	HMEC	breast
42	chr9:101570800-101571200	Flanking Active TSS	NHLF	lung
43	chr9:101570800-101571400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr9:101570800-101571600	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr9:101570800-101571600	Enhancers	Gastric	stomach
46	chr9:101570800-101571600	Enhancers	Lung	lung
47	chr9:101570800-101571800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr9:101570800-101572000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr9:101570800-101572000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr9:101570800-101572000	Flanking Active TSS	Duodenum Mucosa	Duodenum

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