Variant report

Variant	rs10266580
Chromosome Location	chr7:102049901-102049902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:102049844-102050199	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:102049687-102050165	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102034801..102038822-chr7:102042441..102049946,10	MCF-7	breast:
2	chr7:102049801..102052489-chr7:102056531..102058943,2	MCF-7	breast:
3	chr7:102049708..102051237-chr7:102053015..102054788,2	K562	blood:
4	chr7:102048214..102051308-chr7:102051433..102054788,6	K562	blood:
5	chr7:102047341..102050433-chr7:102088256..102090281,3	MCF-7	breast:
6	chr7:102048352..102050476-chr7:102073895..102075585,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR548O	TF binding region
ENSG00000239480	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10229997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237343	0.84[ASW][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap]
rs10238685	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239259	1.00[AMR][1000 genomes]
rs10249883	1.00[AMR][1000 genomes]
rs10250686	0.81[AFR][1000 genomes]
rs10259907	1.00[AMR][1000 genomes]
rs10262517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278236	1.00[AMR][1000 genomes]
rs10280149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28629461	1.00[AMR][1000 genomes]
rs28669211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28672083	1.00[AMR][1000 genomes]
rs6953087	0.84[ASW][hapmap];0.87[LWK][hapmap];0.80[YRI][hapmap]
rs6970836	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102037800-102051400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:102038000-102066800	Weak transcription	Stomach Mucosa	stomach
3	chr7:102038400-102055600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:102038800-102050400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:102038800-102053000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:102038800-102053000	Strong transcription	Thymus	Thymus
7	chr7:102038800-102054000	Strong transcription	Primary T cells from cord blood	blood
8	chr7:102038800-102068600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:102039000-102050400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:102039000-102054000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:102039000-102055000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:102039000-102058000	Strong transcription	Osteobl	bone
13	chr7:102039000-102062400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:102039000-102062400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr7:102039200-102050400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr7:102039200-102050400	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:102039200-102051000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:102039200-102051000	Strong transcription	HSMMtube	muscle
19	chr7:102039200-102053000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:102039200-102053200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:102039200-102053800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:102039200-102057200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:102039200-102059200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:102039200-102059800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:102039200-102062400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:102039200-102062600	Strong transcription	Dnd41	blood
27	chr7:102039200-102068200	Strong transcription	Placenta	Placenta
28	chr7:102039200-102070000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:102039400-102060200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr7:102039400-102060600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:102039400-102061000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:102039400-102061600	Strong transcription	Fetal Intestine Large	intestine
33	chr7:102039400-102063000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:102039400-102063600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:102039600-102051000	Strong transcription	Fetal Brain Female	brain
36	chr7:102039600-102051200	Strong transcription	Rectal Smooth Muscle	rectum
37	chr7:102039600-102052600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:102039600-102053200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:102039600-102060000	Strong transcription	Fetal Lung	lung
40	chr7:102039600-102067800	Strong transcription	Liver	Liver
41	chr7:102039600-102068200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:102039800-102050200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr7:102039800-102050400	Strong transcription	Lung	lung
44	chr7:102039800-102051000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:102039800-102051600	Strong transcription	Brain Hippocampus Middle	brain
46	chr7:102039800-102052800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:102039800-102065800	Strong transcription	Adipose Nuclei	Adipose
48	chr7:102039800-102068600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:102041200-102053200	Strong transcription	Spleen	Spleen
50	chr7:102041600-102054000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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