Variant report

Variant	rs16955067
Chromosome Location	chr16:81369876-81369877
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81368268..81371015-chr16:81379390..81381127,2	K562	blood:
2	chr16:81346603..81348772-chr16:81366929..81370865,3	K562	blood:
3	chr16:81362410..81365455-chr16:81367102..81371144,3	K562	blood:
4	chr16:81347681..81349995-chr16:81369603..81372564,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260495	Chromatin interaction
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1075352	0.93[AMR][1000 genomes]
rs1075353	1.00[CEU][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes]
rs11150385	1.00[MEX][hapmap]
rs11643220	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs11861054	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11861072	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11861112	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861158	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11861322	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11861886	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11862082	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11862778	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes]
rs11862805	1.00[CEU][hapmap];0.94[AMR][1000 genomes]
rs11866294	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11866308	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11866327	1.00[AMR][1000 genomes]
rs11866374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11866407	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11866408	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11866700	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955014	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16955018	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16955027	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16955031	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16955040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16955059	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16955071	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16955074	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16955083	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16955109	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16955113	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16955120	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16955138	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16955149	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes]
rs16955164	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955173	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16955203	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs16955210	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2059281	0.82[CHB][hapmap]
rs2317129	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28560203	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28561847	0.87[AMR][1000 genomes]
rs28864156	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34684636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3803653	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56859781	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57928297	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58590084	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58594614	1.00[AMR][1000 genomes]
rs59579335	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59586584	1.00[AMR][1000 genomes]
rs7203686	1.00[MEX][hapmap]
rs9925624	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs9935105	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81350000-81371200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:81350000-81372000	Weak transcription	Primary B cells from cord blood	blood
3	chr16:81350000-81373200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:81350000-81375000	Weak transcription	Fetal Intestine Large	intestine
5	chr16:81350400-81370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:81350400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:81350600-81372800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:81351400-81371200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr16:81353400-81373200	Weak transcription	HUVEC	blood vessel
10	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:81353800-81372600	Weak transcription	A549	lung
12	chr16:81354000-81371400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:81354400-81372800	Weak transcription	HSMM	muscle
15	chr16:81355600-81371600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:81357800-81375800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:81358800-81372200	Weak transcription	Right Atrium	heart
18	chr16:81358800-81372400	Weak transcription	Lung	lung
19	chr16:81359000-81370000	Weak transcription	HepG2	liver
20	chr16:81359200-81370400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:81359800-81370400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:81360600-81371200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:81360600-81373000	Weak transcription	Brain Angular Gyrus	brain
24	chr16:81360800-81372000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:81361400-81370200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:81363000-81372600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:81363800-81379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:81364000-81374600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:81366400-81372400	Weak transcription	Esophagus	oesophagus
30	chr16:81366400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:81366400-81379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:81366400-81380400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:81366600-81374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:81368200-81370600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:81368200-81371200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:81368400-81371800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr16:81368400-81374000	Weak transcription	Fetal Intestine Small	intestine
38	chr16:81368400-81374400	Weak transcription	Primary T cells from cord blood	blood
39	chr16:81368800-81374000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:81369000-81370200	Weak transcription	Hela-S3	cervix
41	chr16:81369600-81370000	ZNF genes & repeats	Fetal Stomach	stomach
42	chr16:81369600-81370000	ZNF genes & repeats	K562	blood
43	chr16:81369800-81370800	Weak transcription	NH-A	brain
44	chr16:81369800-81370800	Weak transcription	Osteobl	bone
45	chr16:81369800-81372200	Weak transcription	GM12878-XiMat	blood
46	chr16:81369800-81374800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:81369800-81379400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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