Variant report

Variant	rs7212874
Chromosome Location	chr17:16114457-16114458
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16102885..16105162-chr17:16114131..16115658,2	K562	blood:
2	chr17:16112257..16115014-chr17:16118157..16121007,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141027	Chromatin interaction
ENSG00000108474	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1073093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes]
rs1073094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1073095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs16959544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16959547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3744328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3760295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4500784	0.81[AMR][1000 genomes]
rs4792723	0.90[AMR][1000 genomes]
rs57825293	0.89[AMR][1000 genomes]
rs57843678	0.90[AMR][1000 genomes]
rs58475330	0.90[AMR][1000 genomes]
rs59172522	0.84[AMR][1000 genomes]
rs60374261	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60918926	0.83[EUR][1000 genomes]
rs6502495	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6502496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7207630	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7207901	0.90[AMR][1000 genomes]
rs7208681	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7210264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7211957	0.81[AMR][1000 genomes]
rs7212326	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215673	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7218342	0.86[ASN][1000 genomes]
rs7219365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7219665	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7219795	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219810	0.86[ASN][1000 genomes]
rs7219980	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220699	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7223409	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7223807	0.86[ASN][1000 genomes]
rs7224403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7224575	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7225813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7225926	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73978817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73981431	0.84[AMR][1000 genomes]
rs73981433	0.84[AMR][1000 genomes]
rs73981436	0.84[AMR][1000 genomes]
rs73981443	0.84[AMR][1000 genomes]
rs73981445	0.84[AMR][1000 genomes]
rs73981447	0.90[AMR][1000 genomes]
rs73981450	0.90[AMR][1000 genomes]
rs73981453	0.81[AMR][1000 genomes]
rs73981460	0.81[AMR][1000 genomes]
rs73981461	0.81[AMR][1000 genomes]
rs73981462	0.90[AMR][1000 genomes]
rs73981464	0.89[AMR][1000 genomes]
rs73981466	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73981467	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73981471	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73981477	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73981482	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764984	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8065649	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8067494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs8070719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8077949	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8079698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
8	nsv907716	chr17:16068422-16116835	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
10	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers 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	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16088000-16117000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:16088200-16116200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:16089600-16114600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:16090000-16116800	Weak transcription	NH-A	brain
5	chr17:16093600-16117000	Weak transcription	Aorta	Aorta
6	chr17:16095200-16117000	Weak transcription	Right Ventricle	heart
7	chr17:16101200-16114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:16101600-16116000	Weak transcription	Thymus	Thymus
9	chr17:16101800-16117000	Weak transcription	Fetal Stomach	stomach
10	chr17:16102400-16116800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr17:16104000-16117000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:16104200-16114600	Weak transcription	Primary B cells from cord blood	blood
13	chr17:16105200-16116000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:16105200-16117000	Weak transcription	NHEK	skin
15	chr17:16105400-16116200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr17:16105400-16118000	Weak transcription	Spleen	Spleen
17	chr17:16106400-16116800	Weak transcription	NHLF	lung
18	chr17:16106400-16117000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:16106800-16114600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:16106800-16114600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr17:16106800-16114600	Weak transcription	Ovary	ovary
22	chr17:16106800-16115000	Weak transcription	Adipose Nuclei	Adipose
23	chr17:16106800-16115000	Weak transcription	Hela-S3	cervix
24	chr17:16106800-16115400	Weak transcription	Left Ventricle	heart
25	chr17:16106800-16116000	Weak transcription	Right Atrium	heart
26	chr17:16106800-16116800	Weak transcription	Fetal Lung	lung
27	chr17:16106800-16118000	Weak transcription	Lung	lung
28	chr17:16107000-16114600	Weak transcription	Primary T cells from cord blood	blood
29	chr17:16107000-16115400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr17:16107000-16115600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:16107000-16116000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:16107000-16116800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:16107000-16117000	Weak transcription	Brain Anterior Caudate	brain
34	chr17:16107000-16117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:16107200-16116000	Weak transcription	Fetal Intestine Large	intestine
36	chr17:16108200-16115000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:16108200-16116200	Weak transcription	Colon Smooth Muscle	Colon
38	chr17:16108400-16115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr17:16108400-16117600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:16108600-16114600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:16108800-16114600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:16108800-16115600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:16108800-16116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:16108800-16116000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:16108800-16116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:16108800-16117600	Weak transcription	Gastric	stomach
47	chr17:16109600-16114600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr17:16110000-16114600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:16110000-16117000	Weak transcription	Stomach Mucosa	stomach
50	chr17:16110800-16114600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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