Variant report

Variant	rs1451385
Chromosome Location	chr7:25894721-25894722
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:25614579..25616228-chr7:25892925..25895334,2	K562	blood:
2	chr7:25889250..25893042-chr7:25894239..25896921,6	K562	blood:
3	chr11:17298080..17299050-chr7:25894512..25895480,2	NB4	blood:
4	chr7:25889535..25891445-chr7:25893362..25896566,3	MCF-7	breast:
5	chr7:25894376..25896556-chr7:25914929..25917518,2	K562	blood:
6	chr7:25893918..25894862-chr7:25932230..25933199,2	K562	blood:
7	chr7:25894455..25895208-chr7:25934652..25935445,2	K562	blood:
8	chr7:25775918..25778772-chr7:25894489..25897280,2	K562	blood:
9	chr1:234738088..234738992-chr7:25894630..25895260,2	NB4	blood:
10	chr7:25894376..25896420-chr7:25914591..25917518,2	K562	blood:
11	chr7:25163504..25166316-chr7:25894348..25896748,3	K562	blood:
12	chr7:25163296..25164829-chr7:25893486..25896365,2	MCF-7	breast:
13	chr7:25891320..25893042-chr7:25894595..25897680,4	K562	blood:
14	chr7:25894581..25899810-chr7:26238604..26243593,7	K562	blood:
15	chr7:25893947..25899810-chr7:26238759..26243593,6	K562	blood:
16	chr7:25893800..25898221-chr7:26239034..26243289,6	MCF-7	breast:
17	chr7:25805754..25807297-chr7:25892991..25895068,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172115	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10225976	0.91[EUR][1000 genomes]
rs10232819	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10241659	0.91[EUR][1000 genomes]
rs10261019	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10271088	0.90[EUR][1000 genomes]
rs10271460	0.91[EUR][1000 genomes]
rs10274306	0.91[EUR][1000 genomes]
rs10951112	0.88[ASN][1000 genomes]
rs11770186	0.83[CEU][hapmap]
rs11976790	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535837	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12666961	0.84[CEU][hapmap]
rs12700667	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1376527	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1451382	0.91[EUR][1000 genomes]
rs1451383	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2060765	0.82[EUR][1000 genomes]
rs2893220	0.91[EUR][1000 genomes]
rs3902751	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4722526	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4722527	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4722528	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722529	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4722530	0.88[ASN][1000 genomes]
rs4722531	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56376645	0.93[EUR][1000 genomes]
rs60643312	0.91[EUR][1000 genomes]
rs61140461	0.91[EUR][1000 genomes]
rs62447896	0.91[EUR][1000 genomes]
rs6461887	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6958350	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7782246	0.90[EUR][1000 genomes]
rs7782292	0.91[EUR][1000 genomes]
rs7793216	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7798431	0.91[EUR][1000 genomes]
rs979165	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs994505	0.83[AFR][1000 genomes]
rs9987000	0.88[ASN][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	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830928	chr7:25820147-25965014	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25890200-25895200	Weak transcription	HSMMtube	muscle
2	chr7:25892800-25896200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:25893000-25894800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:25893000-25894800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:25893000-25894800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:25893000-25895000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:25893400-25896400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:25893400-25898000	Active TSS	NHDF-Ad	bronchial
9	chr7:25894000-25894800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
10	chr7:25894000-25895000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
11	chr7:25894000-25895000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr7:25894000-25896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:25894000-25896800	Active TSS	Stomach Smooth Muscle	stomach
14	chr7:25894000-25897000	Active TSS	K562	blood
15	chr7:25894000-25897200	Active TSS	Aorta	Aorta
16	chr7:25894000-25897400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:25894000-25897800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:25894200-25894800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
19	chr7:25894200-25895000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:25894200-25895600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:25894200-25895800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:25894200-25895800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:25894200-25896000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:25894200-25896200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:25894200-25897200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:25894200-25897600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:25894400-25894800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:25894400-25894800	Bivalent Enhancer	Colonic Mucosa	Colon
29	chr7:25894400-25894800	Flanking Active TSS	HUVEC	blood vessel
30	chr7:25894400-25895000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:25894400-25895000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:25894400-25895000	Active TSS	A549	lung
33	chr7:25894400-25895200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:25894400-25895600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr7:25894400-25895800	Bivalent/Poised TSS	NH-A	brain
36	chr7:25894400-25896000	ZNF genes & repeats	GM12878-XiMat	blood
37	chr7:25894400-25896200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
38	chr7:25894600-25894800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
39	chr7:25894600-25895000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:25894600-25895000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:25894600-25895000	Enhancers	NHEK	skin
42	chr7:25894600-25895200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:25894600-25895200	Weak transcription	HSMM	muscle
44	chr7:25894600-25895400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:25894600-25895400	Active TSS	Osteobl	bone
46	chr7:25894600-25895600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr7:25894600-25895800	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:25894600-25896200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:25894600-25896200	Bivalent Enhancer	Fetal Thymus	thymus
50	chr7:25894600-25897200	Active TSS	NHLF	lung

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