Variant report

Variant	rs7218054
Chromosome Location	chr17:17775446-17775447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17719864..17722423-chr17:17774275..17776633,2	K562	blood:

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16960767	1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs16960818	1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56160247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56232485	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56928492	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57082481	1.00[AMR][1000 genomes]
rs57277459	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	1.00[AMR][1000 genomes]
rs61050785	1.00[AMR][1000 genomes]
rs61060916	1.00[AMR][1000 genomes]
rs61188141	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	1.00[AMR][1000 genomes]
rs73299861	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299873	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	1.00[AMR][1000 genomes]
rs73303812	1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	1.00[AMR][1000 genomes]
rs73303854	1.00[AMR][1000 genomes]
rs73303856	1.00[AMR][1000 genomes]
rs73303857	1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979217	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066865	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8078368	1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8078811	1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS 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	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	77 gene(s)	inside rSNPs	diseases
9	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	77 gene(s)	inside rSNPs	diseases
11	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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	77 gene(s)	inside rSNPs	diseases
12	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
13	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	74 gene(s)	inside rSNPs	diseases
14	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
15	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
16	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
17	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	74 gene(s)	inside rSNPs	diseases
18	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
19	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
20	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
21	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' 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	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17756800-17789600	Weak transcription	Small Intestine	intestine
2	chr17:17758800-17780200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:17760000-17775800	Weak transcription	Psoas Muscle	Psoas
4	chr17:17764000-17777800	Weak transcription	Hela-S3	cervix
5	chr17:17764200-17803000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:17764400-17799600	Weak transcription	A549	lung
7	chr17:17767400-17779600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:17767600-17782000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:17767600-17782000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr17:17767600-17807400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:17768400-17781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:17768400-17792200	Weak transcription	GM12878-XiMat	blood
13	chr17:17769200-17789400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:17769200-17804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:17769400-17777000	Strong transcription	Esophagus	oesophagus
16	chr17:17769400-17792400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:17769600-17795200	Strong transcription	Primary T cells from cord blood	blood
18	chr17:17770000-17779800	Weak transcription	Stomach Mucosa	stomach
19	chr17:17771200-17778600	Weak transcription	Pancreas	Pancrea
20	chr17:17771200-17779400	Weak transcription	Primary B cells from cord blood	blood
21	chr17:17771800-17775800	Weak transcription	Brain Angular Gyrus	brain
22	chr17:17771800-17779000	Weak transcription	NH-A	brain
23	chr17:17772000-17775800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:17772000-17775800	Weak transcription	Brain Substantia Nigra	brain
25	chr17:17772000-17775800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr17:17772000-17776000	Weak transcription	Left Ventricle	heart
27	chr17:17772000-17776000	Weak transcription	Spleen	Spleen
28	chr17:17772000-17776200	Weak transcription	HMEC	breast
29	chr17:17772000-17779800	Weak transcription	Aorta	Aorta
30	chr17:17772000-17780000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:17772000-17780000	Weak transcription	Colonic Mucosa	Colon
32	chr17:17772200-17776000	Weak transcription	Placenta	Placenta
33	chr17:17772200-17776600	Weak transcription	Right Ventricle	heart
34	chr17:17772200-17778000	Weak transcription	Fetal Heart	heart
35	chr17:17772200-17783600	Weak transcription	HepG2	liver
36	chr17:17772600-17776000	Weak transcription	Thymus	Thymus
37	chr17:17772600-17781400	Weak transcription	Dnd41	blood
38	chr17:17772800-17775800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:17772800-17775800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:17772800-17776000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr17:17772800-17776400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:17772800-17777000	Weak transcription	Liver	Liver
43	chr17:17772800-17779800	Weak transcription	Ovary	ovary
44	chr17:17773000-17776000	Weak transcription	Fetal Intestine Large	intestine
45	chr17:17773000-17778400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr17:17773000-17779000	Weak transcription	Adipose Nuclei	Adipose
47	chr17:17773000-17779400	Weak transcription	Lung	lung
48	chr17:17773200-17776800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr17:17773200-17778600	Weak transcription	Fetal Kidney	kidney
50	chr17:17773200-17779600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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