Variant report

Variant	rs794559
Chromosome Location	chr16:46692501-46692502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46690889..46693240-chr16:46695095..46696661,2	K562	blood:
2	chr16:46688552..46690949-chr16:46691270..46693508,2	K562	blood:
3	chr16:46682731..46685856-chr16:46692484..46695135,3	K562	blood:
4	chr16:46690502..46692806-chr16:46719055..46720847,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260909	Chromatin interaction
ENSG00000261131	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs11860636	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12598707	1.00[AMR][1000 genomes]
rs1436435	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	1.00[AMR][1000 genomes]
rs153259	0.92[AFR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs185213	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1865837	1.00[ASW][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1992078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2033673	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs2164516	0.84[AFR][1000 genomes]
rs2334116	1.00[YRI][hapmap]
rs250420	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250421	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252723	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252728	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs252732	1.00[AMR][1000 genomes]
rs252733	1.00[AMR][1000 genomes]
rs252734	1.00[AMR][1000 genomes]
rs28185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36309	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36460	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs36461	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	1.00[AMR][1000 genomes]
rs36466	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs36467	1.00[AMR][1000 genomes]
rs36470	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	1.00[AMR][1000 genomes]
rs36475	1.00[AMR][1000 genomes]
rs36477	1.00[AMR][1000 genomes]
rs36480	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs36482	1.00[AMR][1000 genomes]
rs396907	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs40164	1.00[AMR][1000 genomes]
rs408906	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs438275	1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4640213	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4966488	1.00[YRI][hapmap]
rs4966571	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4966603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967248	0.83[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967259	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967594	1.00[AMR][1000 genomes]
rs4967595	1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598600	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6598601	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs695997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698417	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs700581	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184436	1.00[AMR][1000 genomes]
rs7187176	0.83[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7192389	1.00[AMR][1000 genomes]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	1.00[AMR][1000 genomes]
rs8049734	1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808078	1.00[YRI][hapmap]
rs808428	1.00[AMR][1000 genomes]
rs808436	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs811196	0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811267	1.00[AMR][1000 genomes]
rs811734	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs937659	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922581	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9924386	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925083	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9935045	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active 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	38 gene(s)	inside rSNPs	diseases
4	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv984334	chr16:46674416-46704148	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46655600-46694200	Weak transcription	Right Ventricle	heart
2	chr16:46674200-46692800	Weak transcription	Ovary	ovary
3	chr16:46681200-46692600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr16:46681400-46692800	Weak transcription	Brain Angular Gyrus	brain
5	chr16:46681400-46693000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:46682200-46692800	Weak transcription	Spleen	Spleen
7	chr16:46683200-46692800	Weak transcription	Aorta	Aorta
8	chr16:46683200-46693000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:46683200-46696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:46683200-46696600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:46683800-46692800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:46683800-46692800	Weak transcription	Colonic Mucosa	Colon
13	chr16:46684000-46692800	Weak transcription	Fetal Lung	lung
14	chr16:46684000-46695600	Weak transcription	K562	blood
15	chr16:46684000-46695800	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:46684200-46693800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:46684200-46695800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:46684200-46701800	Weak transcription	Psoas Muscle	Psoas
19	chr16:46684400-46695800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:46684600-46692600	Weak transcription	NHLF	lung
21	chr16:46684600-46693000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:46684600-46693200	Weak transcription	NHDF-Ad	bronchial
23	chr16:46684600-46695600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:46686000-46695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr16:46686200-46694200	Weak transcription	Fetal Intestine Small	intestine
26	chr16:46686600-46693800	Weak transcription	HepG2	liver
27	chr16:46686600-46701800	Weak transcription	Fetal Heart	heart
28	chr16:46686800-46692800	Weak transcription	Thymus	Thymus
29	chr16:46687600-46694200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr16:46688600-46692800	Weak transcription	Brain Anterior Caudate	brain
31	chr16:46688600-46695600	Weak transcription	Fetal Brain Male	brain
32	chr16:46689000-46713600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr16:46689200-46692600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:46689200-46692800	Weak transcription	Fetal Intestine Large	intestine
35	chr16:46689200-46696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:46689200-46715800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:46689400-46692800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:46689400-46692800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:46689600-46692600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:46689600-46692600	Weak transcription	Brain Germinal Matrix	brain
41	chr16:46689600-46697200	Strong transcription	Fetal Muscle Leg	muscle
42	chr16:46689800-46693000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:46689800-46695600	Weak transcription	Fetal Kidney	kidney
44	chr16:46689800-46705400	Weak transcription	Small Intestine	intestine
45	chr16:46689800-46716200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:46690000-46692600	Weak transcription	Fetal Thymus	thymus
47	chr16:46690000-46692600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:46690000-46692800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr16:46690000-46693600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:46690000-46695800	Weak transcription	Brain Inferior Temporal Lobe	brain

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