Variant report

Variant	rs2507814
Chromosome Location	chr11:64795974-64795975
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	HCFC1	chr11:64794263-64796242	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr11:64794256-64796089	SK-N-SH	brain:	n/a	n/a
3	EBF1	chr11:64794749-64795994	GM12878	blood:	n/a	chr11:64795769-64795778 chr11:64795768-64795778 chr11:64795789-64795800 chr11:64795769-64795778 chr11:64795767-64795778 chr11:64795767-64795780
4	CTCF	chr11:64794254-64796056	A549	lung:	n/a	chr11:64795144-64795152 chr11:64795267-64795283 chr11:64795269-64795278 chr11:64795269-64795282 chr11:64795266-64795284 chr11:64795268-64795289 chr11:64795269-64795282 chr11:64795271-64795281
5	STAT3	chr11:64794397-64795985	MCF10A-Er-Src	breast:	n/a	chr11:64795707-64795718

No.	Distal block	Cell Line	Cell type
1	chr11:64610680..64612429-chr11:64793664..64796204,2	MCF-7	breast:
2	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
3	chr11:64795265..64796796-chr11:64842573..64844398,2	K562	blood:
4	chr11:64793389..64797015-chr11:64806765..64809007,6	K562	blood:
5	chr11:64643878..64648186-chr11:64793107..64797470,5	K562	blood:
6	chr11:64793697..64796700-chr11:64806482..64812345,9	MCF-7	breast:
7	chr11:64793687..64796323-chr11:64849331..64852233,3	K562	blood:
8	chr11:64793181..64796302-chr11:64849635..64852378,4	MCF-7	breast:
9	chr11:64793866..64796535-chr11:64884856..64887631,3	K562	blood:
10	chr11:64793292..64796781-chr11:64862367..64865846,4	K562	blood:
11	chr11:64795201..64796736-chr11:64849535..64851980,2	MCF-7	breast:
12	chr11:64793383..64797474-chr11:64849331..64856424,6	K562	blood:
13	chr11:64793819..64796993-chr11:64862794..64865846,5	K562	blood:

Variant related genes	Relation type
ENSG00000270775	TF binding region
ENSG00000273003	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10897544	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227118	0.83[JPT][hapmap]
rs1196048	0.83[JPT][hapmap]
rs1300845	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2282498	0.83[JPT][hapmap]
rs2458298	0.95[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3741390	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759041	1.00[CEU][hapmap]
rs3782094	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs3802936	0.83[JPT][hapmap]
rs3850946	0.82[CEU][hapmap]
rs3850947	0.81[CEU][hapmap]
rs3862374	0.83[JPT][hapmap]
rs476824	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs486984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs488686	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs489489	0.83[JPT][hapmap]
rs502333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs525433	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs533018	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs534236	0.83[JPT][hapmap]
rs548150	0.83[JPT][hapmap]
rs562590	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs566221	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs613874	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs620981	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs653111	0.83[JPT][hapmap]
rs6591869	0.83[JPT][hapmap]
rs678614	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943007	0.83[JPT][hapmap]
rs947799	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs9971546	0.83[JPT][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2507814	SNX15	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64794400-64796200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:64794400-64796200	Active TSS	Psoas Muscle	Psoas
3	chr11:64794400-64796200	Flanking Active TSS	Dnd41	blood
4	chr11:64794400-64796200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:64794400-64796400	Active TSS	HSMM	muscle
6	chr11:64794600-64796000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr11:64794600-64796000	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr11:64794600-64796000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr11:64794600-64796000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr11:64794600-64796000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:64794600-64796000	Active TSS	Aorta	Aorta
12	chr11:64794600-64796000	Active TSS	Ovary	ovary
13	chr11:64794600-64796200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:64794600-64796200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr11:64794600-64796200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:64794600-64796200	Active TSS	Right Atrium	heart
17	chr11:64794600-64796200	Active TSS	Right Ventricle	heart
18	chr11:64794600-64796400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:64794600-64796400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:64794800-64796000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:64794800-64796000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:64794800-64796000	Active TSS	Colonic Mucosa	Colon
23	chr11:64794800-64796000	Active TSS	Fetal Muscle Trunk	muscle
24	chr11:64794800-64796000	Active TSS	Left Ventricle	heart
25	chr11:64794800-64796200	Active TSS	Brain Angular Gyrus	brain
26	chr11:64794800-64796200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:64794800-64796200	Active TSS	NHDF-Ad	bronchial
28	chr11:64795200-64796000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:64795200-64796200	Weak transcription	Gastric	stomach
30	chr11:64795200-64796400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:64795200-64799000	Weak transcription	Spleen	Spleen
32	chr11:64795200-64799400	Weak transcription	Esophagus	oesophagus
33	chr11:64795200-64799800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:64795200-64808000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:64795400-64796000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:64795400-64796000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr11:64795400-64796000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr11:64795400-64796000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr11:64795400-64796000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr11:64795400-64796000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:64795400-64796000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr11:64795400-64796000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr11:64795400-64796000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:64795400-64796000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr11:64795400-64796000	Flanking Active TSS	Fetal Heart	heart
46	chr11:64795400-64796000	Weak transcription	Pancreas	Pancrea
47	chr11:64795400-64796000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:64795400-64796000	Flanking Active TSS	HUVEC	blood vessel
49	chr11:64795400-64796000	Flanking Active TSS	NH-A	brain
50	chr11:64795400-64796200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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