Variant report

Variant	rs73979061
Chromosome Location	chr17:16977162-16977163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16973848..16977843-chr17:17007115..17009088,3	K562	blood:
2	chr17:16972185..16973700-chr17:16976776..16979129,2	MCF-7	breast:
3	chr17:16944012..16948651-chr17:16974298..16979165,8	MCF-7	breast:
4	chr11:65686107..65686857-chr17:16976842..16977697,2	HCT-116	colon:
5	chr17:16971774..16974202-chr17:16976172..16978952,3	K562	blood:
6	chr17:16975491..16978124-chr17:16978720..16981255,2	K562	blood:

Variant related genes	Relation type
ENSG00000225442	Chromatin interaction
ENSG00000133030	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1047805	0.90[AMR][1000 genomes]
rs10852843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852844	0.95[AMR][1000 genomes]
rs10852845	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10852846	0.90[AMR][1000 genomes]
rs11078364	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11078365	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078366	0.90[ASN][1000 genomes]
rs11078370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078371	0.95[AMR][1000 genomes]
rs11078372	0.95[AMR][1000 genomes]
rs11078373	0.90[AMR][1000 genomes]
rs11078375	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1110504	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1110505	0.90[AMR][1000 genomes]
rs11651460	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11651938	0.90[AMR][1000 genomes]
rs11651988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11652079	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11652674	0.87[EUR][1000 genomes]
rs11652678	0.90[AMR][1000 genomes]
rs11652756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11652936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654247	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11654360	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11654562	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11658084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11658904	0.88[ASN][1000 genomes]
rs12450109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12450213	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12450238	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12450467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12451054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452303	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12452802	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12601325	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12602124	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602867	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16961288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16961412	0.88[AMR][1000 genomes]
rs1877631	0.82[ASN][1000 genomes]
rs2292526	0.86[AMR][1000 genomes]
rs3744125	0.90[AMR][1000 genomes]
rs3744127	0.90[AMR][1000 genomes]
rs3744132	0.90[AMR][1000 genomes]
rs3744133	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3744136	0.90[AMR][1000 genomes]
rs3744140	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3826305	0.88[AMR][1000 genomes]
rs4073940	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074612	0.95[AMR][1000 genomes]
rs4074819	0.90[AMR][1000 genomes]
rs4264448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4283273	0.90[AMR][1000 genomes]
rs4321246	0.86[AMR][1000 genomes]
rs4606773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4621033	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985703	0.90[AMR][1000 genomes]
rs4985712	0.85[ASN][1000 genomes]
rs4985714	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985715	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985723	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985739	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985744	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985747	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55751545	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56009207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57812549	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58326998	0.90[AMR][1000 genomes]
rs58472573	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58814183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59394251	0.90[AMR][1000 genomes]
rs60128647	0.95[AMR][1000 genomes]
rs61018209	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7207187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7210339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217970	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7223583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7223686	0.90[ASN][1000 genomes]
rs7223924	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73979053	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73979054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73979055	0.96[AFR][1000 genomes]
rs73979058	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73979060	0.95[AMR][1000 genomes]
rs73979081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064991	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8066111	0.90[AMR][1000 genomes]
rs8067563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075751	0.85[ASN][1000 genomes]
rs9910011	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059280	chr17:16975059-17017957	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16952600-16996400	Weak transcription	Fetal Brain Male	brain
2	chr17:16954800-16981200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:16955400-16981200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:16959200-16982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:16959600-16979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr17:16959600-16992000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:16961600-16977200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:16966200-16980800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr17:16970000-16981000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:16970800-16980400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:16971000-16977200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:16971000-16979000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr17:16973000-16981000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:16973000-16981200	Enhancers	Brain Anterior Caudate	brain
15	chr17:16973200-16985000	Genic enhancers	A549	lung
16	chr17:16973400-16981400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:16973600-16979800	Genic enhancers	HSMM	muscle
18	chr17:16973600-16980000	Genic enhancers	HMEC	breast
19	chr17:16973600-16997600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:16973800-16977200	Weak transcription	HUVEC	blood vessel
21	chr17:16973800-16978200	Enhancers	Stomach Mucosa	stomach
22	chr17:16973800-16978200	Weak transcription	GM12878-XiMat	blood
23	chr17:16973800-16982200	Strong transcription	Fetal Brain Female	brain
24	chr17:16974000-16977200	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr17:16974000-16977200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr17:16974000-16977200	Strong transcription	Fetal Lung	lung
27	chr17:16974000-16995400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:16974200-16977400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:16974200-16977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:16974200-16977400	Genic enhancers	Lung	lung
31	chr17:16974200-16977600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:16974200-16977800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:16974200-16978000	Genic enhancers	Spleen	Spleen
34	chr17:16974200-16978200	Genic enhancers	Gastric	stomach
35	chr17:16974200-16978200	Genic enhancers	Right Ventricle	heart
36	chr17:16974200-16979200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:16974200-16979400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:16974200-16979600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:16974200-16979600	Enhancers	Psoas Muscle	Psoas
40	chr17:16974200-16979800	Enhancers	Right Atrium	heart
41	chr17:16974200-16980000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr17:16974200-16980600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr17:16974200-16981200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:16974200-16981800	Genic enhancers	Fetal Intestine Large	intestine
45	chr17:16974200-16985200	Enhancers	Brain Angular Gyrus	brain
46	chr17:16974400-16977200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:16974400-16977200	Enhancers	Primary T cells from cord blood	blood
48	chr17:16974400-16977200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:16974400-16977400	Genic enhancers	NHEK	skin
50	chr17:16974400-16977600	Genic enhancers	Fetal Muscle Leg	muscle

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