Variant report

Variant	rs9422545
Chromosome Location	chr10:44070754-44070755
allele	A/G
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	MXI1	chr10:44068477-44070901	SK-N-SH	brain:	n/a	n/a
2	SETDB1	chr10:44069820-44071203	U2OS	brain:	n/a	chr10:44070058-44070082
3	CBX3	chr10:44069117-44070826	K562	blood:	n/a	n/a
4	HCFC1	chr10:44069138-44070810	Hela-S3	cervix:	n/a	n/a
5	BHLHE40	chr10:44068892-44070821	K562	blood:	n/a	chr10:44069738-44069754 chr10:44069201-44069217 chr10:44069834-44069850 chr10:44069950-44069966

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44063474..44065679-chr10:44068799..44071087,3	MCF-7	breast:
2	chr10:44068620..44071892-chr10:44099602..44104778,6	MCF-7	breast:

Variant related genes	Relation type
ZNF239	TF binding region
ENSG00000232004	Chromatin interaction
ENSG00000198298	Chromatin interaction
ENSG00000196793	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10793442	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10793443	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899827	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899828	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11238585	0.92[ASN][1000 genomes]
rs11238588	0.88[CHB][hapmap];0.94[ASN][1000 genomes]
rs12354445	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12415781	0.82[ASN][1000 genomes]
rs12784891	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1338565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1832470	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2230660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2230661	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393938	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2393939	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2393942	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2393959	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393960	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2860340	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999270	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2999271	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999272	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999273	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2999274	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999278	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999279	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999280	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006379	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3006380	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3006383	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3006384	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3006385	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763789	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4948747	0.92[ASN][1000 genomes]
rs6593359	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7078691	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7079328	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7086537	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7089577	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7091995	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7092156	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7101356	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7893169	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7894102	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7897611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7906129	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7913084	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7915227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9326506	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9422385	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9422388	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9422540	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9422541	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9422543	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9422544	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9422546	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9422547	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9422549	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9422550	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9422555	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9422557	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798523	chr10:44051698-44070754	Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44069000-44070800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr10:44069000-44070800	ZNF genes & repeats	GM12878-XiMat	blood
3	chr10:44069200-44070800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr10:44069200-44070800	Active TSS	Fetal Brain Male	brain
5	chr10:44069200-44070800	Bivalent/Poised TSS	NHEK	skin
6	chr10:44069400-44070800	Active TSS	Brain Angular Gyrus	brain
7	chr10:44069400-44070800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr10:44069400-44070800	Active TSS	Rectal Smooth Muscle	rectum
9	chr10:44069400-44071000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr10:44069600-44070800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr10:44069600-44070800	Active TSS	Brain Cingulate Gyrus	brain
12	chr10:44069600-44070800	Active TSS	Brain Hippocampus Middle	brain
13	chr10:44070000-44071000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr10:44070000-44071200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr10:44070200-44070800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr10:44070200-44070800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:44070200-44070800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:44070200-44070800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:44070200-44070800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr10:44070200-44070800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr10:44070200-44070800	Enhancers	Spleen	Spleen
22	chr10:44070200-44070800	Flanking Active TSS	Hela-S3	cervix
23	chr10:44070200-44070800	Flanking Active TSS	K562	blood
24	chr10:44070200-44070800	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr10:44070200-44071200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr10:44070200-44071400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr10:44070400-44070800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:44070400-44070800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:44070400-44070800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr10:44070400-44070800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:44070400-44070800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:44070400-44070800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr10:44070400-44070800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:44070400-44070800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr10:44070400-44071000	Enhancers	Primary hematopoietic stem cells	blood
36	chr10:44070400-44071000	ZNF genes & repeats	A549	lung
37	chr10:44070400-44071600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr10:44070600-44070800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:44070600-44070800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:44070600-44070800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:44070600-44070800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:44070600-44070800	Enhancers	Adipose Nuclei	Adipose
43	chr10:44070600-44070800	Enhancers	Colonic Mucosa	Colon
44	chr10:44070600-44070800	Enhancers	Colon Smooth Muscle	Colon
45	chr10:44070600-44070800	Active TSS	Duodenum Mucosa	Duodenum
46	chr10:44070600-44070800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr10:44070600-44070800	Enhancers	Fetal Intestine Large	intestine
48	chr10:44070600-44070800	Enhancers	Fetal Intestine Small	intestine
49	chr10:44070600-44070800	Enhancers	Fetal Kidney	kidney
50	chr10:44070600-44070800	Enhancers	Skeletal Muscle Female	skeletal muscle

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