Variant report

Variant	rs4459935
Chromosome Location	chr3:121529963-121529964
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	chr3:121507997..121509959-chr3:121529040..121530668,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1920295	1.00[AMR][1000 genomes]
rs1920303	1.00[AMR][1000 genomes]
rs1920308	1.00[AMR][1000 genomes]
rs1920311	1.00[AMR][1000 genomes]
rs1920312	1.00[AMR][1000 genomes]
rs1920313	1.00[AMR][1000 genomes]
rs1920315	1.00[AMR][1000 genomes]
rs2091663	1.00[AMR][1000 genomes]
rs2091666	1.00[AMR][1000 genomes]
rs2332043	1.00[AMR][1000 genomes]
rs2332045	1.00[AMR][1000 genomes]
rs2332047	1.00[AMR][1000 genomes]
rs2332055	1.00[AMR][1000 genomes]
rs2689275	1.00[AMR][1000 genomes]
rs2689277	1.00[AMR][1000 genomes]
rs2700423	1.00[AMR][1000 genomes]
rs2877567	1.00[AMR][1000 genomes]
rs34893142	1.00[AMR][1000 genomes]
rs35264348	1.00[AMR][1000 genomes]
rs4395433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59621197	1.00[AMR][1000 genomes]
rs60682200	1.00[AMR][1000 genomes]
rs61166760	1.00[AMR][1000 genomes]
rs6438650	1.00[AMR][1000 genomes]
rs6438659	1.00[AMR][1000 genomes]
rs6438686	1.00[AMR][1000 genomes]
rs6768507	1.00[AMR][1000 genomes]
rs6799626	1.00[AMR][1000 genomes]
rs6802026	1.00[AMR][1000 genomes]
rs72963373	1.00[AMR][1000 genomes]
rs7619800	1.00[AMR][1000 genomes]
rs9822660	1.00[AMR][1000 genomes]
rs9869984	1.00[AMR][1000 genomes]
rs9878616	1.00[AMR][1000 genomes]
rs9882454	1.00[AMR][1000 genomes]
rs9882939	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	40 gene(s)	inside rSNPs	diseases
5	nsv829703	chr3:121383290-121534493	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv432483	chr3:121488995-121629634	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121486800-121532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:121491600-121552600	Weak transcription	NHLF	lung
3	chr3:121494200-121544200	Weak transcription	Fetal Brain Male	brain
4	chr3:121494400-121530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:121500200-121541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:121507000-121545400	Weak transcription	Fetal Heart	heart
7	chr3:121507200-121536000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:121508200-121535800	Weak transcription	Psoas Muscle	Psoas
9	chr3:121508400-121536400	Weak transcription	HUVEC	blood vessel
10	chr3:121508600-121541400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:121508800-121530000	Weak transcription	Brain Germinal Matrix	brain
12	chr3:121508800-121530200	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:121515200-121530200	Weak transcription	Small Intestine	intestine
14	chr3:121518800-121530200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:121519600-121530400	Weak transcription	Right Ventricle	heart
16	chr3:121521600-121531600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:121521800-121531600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:121522000-121531200	Strong transcription	Dnd41	blood
19	chr3:121522200-121531200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:121522400-121536600	Weak transcription	Fetal Kidney	kidney
21	chr3:121523000-121531600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:121523200-121531200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr3:121523200-121534000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:121524400-121530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:121524400-121536600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:121524600-121530000	Weak transcription	Fetal Brain Female	brain
27	chr3:121524600-121536400	Weak transcription	K562	blood
28	chr3:121524800-121541400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:121525000-121530200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:121525200-121536400	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:121525400-121530600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:121525800-121530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:121525800-121530000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:121525800-121530200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:121526000-121542800	Weak transcription	NH-A	brain
36	chr3:121526200-121540000	Weak transcription	NHDF-Ad	bronchial
37	chr3:121526400-121530400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:121526400-121533600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:121526400-121536400	Weak transcription	Osteobl	bone
40	chr3:121526600-121530000	Weak transcription	Placenta	Placenta
41	chr3:121526800-121531600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:121527600-121530200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:121527600-121531000	Strong transcription	Fetal Thymus	thymus
44	chr3:121527800-121536400	Weak transcription	A549	lung
45	chr3:121528000-121553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:121528200-121530000	Weak transcription	Gastric	stomach
47	chr3:121528200-121530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr3:121528200-121530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:121528200-121530600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:121528200-121531200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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