Variant report

Variant	rs73979243
Chromosome Location	chr17:17854945-17854946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17852605..17855081-chr17:17872067..17874591,2	K562	blood:
2	chr17:17846210..17848871-chr17:17854659..17856269,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs16960767	1.00[AMR][1000 genomes]
rs16960818	1.00[AMR][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56160247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56232485	1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57134764	1.00[EUR][1000 genomes]
rs57277459	1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58116638	1.00[EUR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58970292	1.00[EUR][1000 genomes]
rs61050785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61060916	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61188141	1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	1.00[AMR][1000 genomes]
rs73299861	1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303812	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	1.00[AMR][1000 genomes]
rs73303840	1.00[EUR][1000 genomes]
rs73303844	1.00[EUR][1000 genomes]
rs73303854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303856	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303857	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979217	1.00[AMR][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8066865	1.00[AMR][1000 genomes]
rs8067146	1.00[EUR][1000 genomes]
rs8068860	1.00[EUR][1000 genomes]
rs8078368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8078811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9914362	1.00[EUR][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	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
2	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
3	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
4	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
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
2	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:17839400-17858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:17839400-17860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr17:17839800-17859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:17844800-17859800	Weak transcription	Colonic Mucosa	Colon
7	chr17:17844800-17861400	Weak transcription	Liver	Liver
8	chr17:17847000-17858000	Weak transcription	Adipose Nuclei	Adipose
9	chr17:17847000-17860200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:17847200-17861400	Weak transcription	Fetal Kidney	kidney
11	chr17:17847400-17856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:17847400-17856800	Weak transcription	Thymus	Thymus
13	chr17:17847400-17859800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:17847400-17860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:17847400-17860600	Weak transcription	K562	blood
16	chr17:17847400-17861600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr17:17847400-17864000	Weak transcription	Aorta	Aorta
18	chr17:17847600-17855200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:17847600-17856000	Weak transcription	Primary T cells from cord blood	blood
20	chr17:17847600-17856000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr17:17847600-17857000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr17:17847600-17860200	Weak transcription	Hela-S3	cervix
23	chr17:17847800-17856200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr17:17847800-17856600	Weak transcription	Fetal Thymus	thymus
25	chr17:17848200-17856800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:17848400-17855200	Weak transcription	Brain Germinal Matrix	brain
27	chr17:17848400-17858000	Weak transcription	Brain Hippocampus Middle	brain
28	chr17:17848400-17859800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:17848400-17861200	Weak transcription	Fetal Muscle Leg	muscle
30	chr17:17848400-17862200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr17:17848600-17855200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:17848600-17856800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr17:17848600-17858000	Weak transcription	HSMMtube	muscle
34	chr17:17848600-17860600	Weak transcription	Colon Smooth Muscle	Colon
35	chr17:17848600-17861400	Weak transcription	Brain Substantia Nigra	brain
36	chr17:17848600-17861600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:17848800-17856800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr17:17848800-17858000	Weak transcription	Fetal Heart	heart
39	chr17:17848800-17863000	Weak transcription	Fetal Brain Female	brain
40	chr17:17849000-17855000	Weak transcription	Brain Anterior Caudate	brain
41	chr17:17849000-17861600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:17849200-17855800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr17:17849600-17858000	Weak transcription	Fetal Intestine Large	intestine
44	chr17:17849600-17858200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr17:17849600-17860400	Weak transcription	Small Intestine	intestine
46	chr17:17849800-17855400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr17:17849800-17858000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr17:17850800-17856800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr17:17850800-17860200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:17851000-17859800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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