Variant report

Variant	rs73979056
Chromosome Location	chr17:16949625-16949626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16922009..16924326-chr17:16949178..16951661,2	MCF-7	breast:
2	chr17:16943909..16948439-chr17:16949478..16955691,9	K562	blood:
3	chr17:16948833..16952528-chr17:16954016..16957501,7	K562	blood:

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048152	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1131632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16961406	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829096	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4485421	1.00[EUR][1000 genomes]
rs55792503	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56247606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56343767	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56912118	1.00[EUR][1000 genomes]
rs58169814	1.00[EUR][1000 genomes]
rs58377774	0.94[AFR][1000 genomes]
rs58442149	1.00[EUR][1000 genomes]
rs58690840	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58702370	1.00[EUR][1000 genomes]
rs60029796	1.00[EUR][1000 genomes]
rs60192272	1.00[EUR][1000 genomes]
rs60332371	1.00[EUR][1000 genomes]
rs60364428	1.00[EUR][1000 genomes]
rs60545734	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60697210	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60890438	1.00[EUR][1000 genomes]
rs61024568	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61218165	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61608940	1.00[EUR][1000 genomes]
rs7219836	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7223145	1.00[EUR][1000 genomes]
rs7223758	1.00[EUR][1000 genomes]
rs7225496	1.00[EUR][1000 genomes]
rs73979025	1.00[EUR][1000 genomes]
rs73979028	1.00[EUR][1000 genomes]
rs73979045	1.00[EUR][1000 genomes]
rs73979046	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979047	0.83[AFR][1000 genomes]
rs73979048	1.00[EUR][1000 genomes]
rs73979049	1.00[EUR][1000 genomes]
rs73979057	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979063	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979079	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979085	0.84[AMR][1000 genomes]
rs73979088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979096	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979097	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981903	1.00[EUR][1000 genomes]
rs73981904	1.00[EUR][1000 genomes]
rs8079021	1.00[EUR][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	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16946800-16950000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr17:16947400-16954000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:16947600-16951200	Enhancers	Liver	Liver
4	chr17:16947600-16960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:16947800-16955200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:16948400-16958600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr17:16948600-16952000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr17:16948600-16958800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:16948600-16959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:16948800-16950200	Enhancers	Aorta	Aorta
11	chr17:16948800-16951800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr17:16948800-16958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:16949000-16949800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:16949000-16949800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr17:16949000-16949800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:16949000-16949800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:16949000-16949800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:16949000-16949800	Enhancers	Brain Angular Gyrus	brain
19	chr17:16949000-16949800	Enhancers	Fetal Brain Male	brain
20	chr17:16949000-16949800	Active TSS	Psoas Muscle	Psoas
21	chr17:16949000-16949800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr17:16949000-16950000	Enhancers	Brain Anterior Caudate	brain
23	chr17:16949000-16950000	Enhancers	Brain Hippocampus Middle	brain
24	chr17:16949000-16950000	Enhancers	Fetal Intestine Small	intestine
25	chr17:16949000-16950000	Enhancers	Fetal Kidney	kidney
26	chr17:16949000-16950000	Weak transcription	Small Intestine	intestine
27	chr17:16949000-16950200	Enhancers	Brain Cingulate Gyrus	brain
28	chr17:16949000-16950200	Weak transcription	Ovary	ovary
29	chr17:16949000-16950200	Weak transcription	Pancreas	Pancrea
30	chr17:16949000-16950200	Enhancers	Dnd41	blood
31	chr17:16949000-16950400	Enhancers	Hela-S3	cervix
32	chr17:16949000-16950800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:16949000-16950800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:16949000-16950800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr17:16949000-16950800	Weak transcription	HSMM	muscle
36	chr17:16949000-16951000	Weak transcription	Spleen	Spleen
37	chr17:16949000-16951200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:16949000-16951200	Weak transcription	Esophagus	oesophagus
39	chr17:16949000-16951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:16949000-16951800	Enhancers	Fetal Muscle Trunk	muscle
41	chr17:16949000-16952000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr17:16949000-16952000	Weak transcription	Fetal Intestine Large	intestine
43	chr17:16949000-16952400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr17:16949000-16952400	Enhancers	NHLF	lung
45	chr17:16949000-16952600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:16949000-16952600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr17:16949000-16952800	Enhancers	Right Atrium	heart
48	chr17:16949000-16953200	Enhancers	Fetal Muscle Leg	muscle
49	chr17:16949000-16954000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:16949000-16954000	Weak transcription	Colonic Mucosa	Colon

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