Variant report

Variant	rs17692895
Chromosome Location	chr7:27903830-27903831
allele	A/C
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	FOS	chr7:27903611-27903936	MCF10A-Er-Src	breast:	n/a	chr7:27903762-27903771 chr7:27903763-27903772
2	FOS	chr7:27903606-27903943	MCF10A-Er-Src	breast:	n/a	chr7:27903762-27903771 chr7:27903763-27903772
3	JUN	chr7:27903717-27903924	K562	blood:	n/a	chr7:27903762-27903771 chr7:27903763-27903772
4	JUND	chr7:27903619-27903874	H1-hESC	embryonic stem cell:	n/a	chr7:27903762-27903771 chr7:27903761-27903772 chr7:27903763-27903772
5	CREB1	chr7:27903585-27903919	K562	blood:	n/a	n/a
6	FOS	chr7:27903593-27903935	MCF10A-Er-Src	breast:	n/a	chr7:27903762-27903771 chr7:27903763-27903772
7	FOS	chr7:27903652-27903934	MCF10A-Er-Src	breast:	n/a	chr7:27903762-27903771 chr7:27903763-27903772
8	JUND	chr7:27903663-27903845	K562	blood:	n/a	chr7:27903762-27903771 chr7:27903761-27903772 chr7:27903763-27903772

Variant related genes	Relation type
JAZF1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10228505	0.90[ASN][1000 genomes]
rs10228576	0.88[ASN][1000 genomes]
rs10245536	0.90[ASN][1000 genomes]
rs10257676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs10281008	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10486562	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11761430	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11761467	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11761905	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs11763610	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs11768570	0.80[EUR][1000 genomes]
rs11769157	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs11981911	1.00[CHB][hapmap]
rs11984239	0.90[ASN][1000 genomes]
rs17150567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17155691	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs17155744	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs17155863	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17684444	0.89[CEU][hapmap]
rs17692264	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2285929	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28432782	0.90[ASN][1000 genomes]
rs28693893	0.90[ASN][1000 genomes]
rs28805873	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58979783	0.90[ASN][1000 genomes]
rs61179177	0.90[ASN][1000 genomes]
rs61446104	0.90[ASN][1000 genomes]
rs62451068	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62451070	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62451071	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62451072	0.90[ASN][1000 genomes]
rs62451074	0.90[ASN][1000 genomes]
rs62451078	0.90[ASN][1000 genomes]
rs6979972	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs73075305	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73075333	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs739900	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7797888	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
2	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
3	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
5	chr7:27881000-27905600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:27882800-27912000	Weak transcription	Brain Anterior Caudate	brain
7	chr7:27889200-27912000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:27893200-27909000	Weak transcription	Right Ventricle	heart
9	chr7:27896000-27908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:27896200-27913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:27896600-27907200	Weak transcription	Primary T cells from cord blood	blood
12	chr7:27897200-27906400	Weak transcription	Spleen	Spleen
13	chr7:27897200-27907400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:27897200-27909000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:27897200-27912000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:27897200-27915200	Weak transcription	Gastric	stomach
17	chr7:27898400-27907200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:27899400-27912600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:27900600-27910200	Weak transcription	Pancreas	Pancrea
20	chr7:27900600-27911400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:27901000-27908000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:27901200-27913400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:27901400-27908000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:27901400-27913400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:27901400-27913800	Weak transcription	NHLF	lung
26	chr7:27901600-27905800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:27901600-27912200	Strong transcription	Primary B cells from cord blood	blood
28	chr7:27901800-27909600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:27902000-27904200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:27902200-27911600	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:27902600-27904400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:27902600-27908600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:27903000-27904000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:27903000-27904000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr7:27903000-27904200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:27903200-27904200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:27903200-27904200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:27903200-27911400	Weak transcription	Lung	lung
39	chr7:27903400-27904000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:27903400-27904200	Enhancers	NH-A	brain
41	chr7:27903400-27904200	Enhancers	Osteobl	bone
42	chr7:27903600-27904000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:27903600-27904200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:27903800-27904000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:27903800-27906600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:27903800-27910600	Weak transcription	Fetal Stomach	stomach
47	chr7:27903800-27913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:27903800-27913800	Weak transcription	HMEC	breast
49	chr7:27903800-27914000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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