Variant report

Variant	rs59594429
Chromosome Location	chr4:3347872-3347873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3347550..3348452-chr4:3441019..3441869,2	K562	blood:
2	chr4:3345074..3347959-chr4:3442893..3444446,2	MCF-7	breast:
3	chr4:3346041..3348825-chr4:3461682..3464499,2	MCF-7	breast:
4	chr4:3347569..3348482-chr4:3444950..3445609,2	MCF-7	breast:
5	chr4:3347496..3348411-chr4:3444927..3445862,6	K562	blood:
6	chr4:3347603..3348412-chr4:3481940..3482894,2	MCF-7	breast:
7	chr4:3346774..3348608-chr4:3355000..3357039,2	MCF-7	breast:
8	chr4:3347519..3348454-chr4:3481863..3482872,4	K562	blood:
9	chr4:3346980..3350932-chr4:3475951..3478417,3	MCF-7	breast:
10	chr4:3347483..3348481-chr4:3444797..3445914,9	MCF-7	breast:
11	chr4:3345570..3349550-chr4:3443309..3446675,3	MCF-7	breast:
12	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109758	Chromatin interaction
ENSG00000175920	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10006362	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10212869	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12500527	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13115912	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13152170	0.83[ASN][1000 genomes]
rs16844212	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28600049	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35494582	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58982717	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6826720	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6829279	0.83[ASN][1000 genomes]
rs6852922	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6855619	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71597208	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs743699	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7668784	0.93[ASN][1000 genomes]
rs7679872	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7695631	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 target site	13 gene(s)	inside rSNPs	diseases
5	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:3314400-3348200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:3320400-3351800	Weak transcription	Aorta	Aorta
4	chr4:3325600-3348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:3326400-3348000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:3334000-3370600	Weak transcription	Right Atrium	heart
7	chr4:3339200-3353200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:3342000-3348200	Weak transcription	Brain Angular Gyrus	brain
9	chr4:3342200-3348000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:3342600-3348000	Weak transcription	Liver	Liver
11	chr4:3342600-3350200	Weak transcription	Pancreas	Pancrea
12	chr4:3342800-3348000	Weak transcription	Left Ventricle	heart
13	chr4:3342800-3348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:3342800-3355400	Weak transcription	Esophagus	oesophagus
15	chr4:3343800-3348000	Weak transcription	Placenta	Placenta
16	chr4:3343800-3350200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:3344000-3352400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:3344000-3354600	Weak transcription	Right Ventricle	heart
19	chr4:3344200-3348000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:3344200-3348000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:3344200-3348000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:3344400-3348000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:3344400-3348000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:3344400-3348000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:3344400-3348000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:3344400-3348000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:3344400-3349600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:3344400-3349800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:3344400-3350200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:3344400-3350200	Weak transcription	Ovary	ovary
31	chr4:3344400-3350200	Weak transcription	Spleen	Spleen
32	chr4:3344400-3356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:3344400-3362400	Weak transcription	HSMMtube	muscle
34	chr4:3344400-3367600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:3344600-3348000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:3344600-3348000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:3344600-3348000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:3344600-3349600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:3344800-3348000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:3344800-3348000	Weak transcription	NHLF	lung
41	chr4:3344800-3350200	Weak transcription	Fetal Kidney	kidney
42	chr4:3344800-3350600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:3344800-3352600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:3345000-3348000	Weak transcription	A549	lung
45	chr4:3345000-3348000	Weak transcription	Osteobl	bone
46	chr4:3345200-3348000	Weak transcription	HepG2	liver
47	chr4:3346000-3353400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:3346200-3348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:3346200-3348000	Weak transcription	Fetal Lung	lung
50	chr4:3346200-3355800	Weak transcription	Gastric	stomach

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